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Gene Therapy for OPMD Nears Human Studies, Benitec Announces – Muscular Dystrophy News

Posted: September 6, 2017 at 5:44 pm

A single gene therapy that silences the mutation responsible for oculopharyngeal muscular dystrophy (OPMD) and replaces the mutated gene with a normal one may advance into human studies in the second half of 2018.

Benitec Biopharma started its OPMD program in 2014 and now announced their clinical candidate BB-301 as a one-step gene therapy approach.

OPMD patients develop muscle weakness in the upper eyelids and throat in adulthood, typically after age 40. OMPD is a rare genetic disease caused by a mutation of the poly(A)-binding protein nuclear 1 (PABPN1) gene. Because it affects fewer than 200,000 people nationwide, OMPD is considered an orphan disease that benefits from encouraging programs for drugs targeting these rare diseases.

In collaboration with research groups in London and Paris, Benitec tested a genetic approach known as DNA-directed RNA interference (ddRNAi) to shut down and replace the mutant PABPN1 gene using two different viral vectors. In this pre-clinical study, researchers found that the two-vector system restored muscular function in A17 mouse model, which displays many OPMD clinical signs including fibrosis and loss of muscle strength.

Now, Benitec combined silence and replace gene functions into a single vector (a carrier system) ina new clinical candidate, BB-301. Using a single vector, they succeed in eliminating 88 percent of the mutant gene product while restoring the normal gene function up to 90 percent. As a single product, BB-301 simplifies the regulatory process and the clinical strategy for human studies.

This is an important development in our OPMD program. The single vector system shows the same excellent activity as the earlier generation dual vector system where the silence and replace constructs were delivered in separate vectors. Similar application of the single vector technology may allow development of novel therapeutics to treat other orphan diseases. OPMD is a significant commercial opportunity for Benitec and we are working with the regulators and key opinion leaders in this field to advance BB-301 into the clinic as quickly as possible, Greg West, CEO, explained in a press release.

Benitec is in discussions with a broad group of OPMD clinicians and experts about a clinical trial that will be proposed to regulatory agencies later this year. If approved by the U.S. Food and Drug Administration, human studies could start in 2018.

Gene Therapy for OPMD Nears Human Studies, Benitec Announces – Muscular Dystrophy News

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Menopause updates – ModernMedicine

Posted: at 5:44 pm

NICE guidelines on menopause

Guidelines from the National Institute for Health and Care Excellence (NICE) offer a unique perspective on diagnosis and management of menopause, designed to help women stop suffering in silence. Aimed at health care providers in the UK but also relevant to US ob/gyns, the recommendations focus on ways to determine if menopause has started, what drug and non-drug options might be useful for a patients physical and psychological symptoms, and clarifying the risks and benefits of hormone replacement therapy (HRT).The NICE Guideline: Diagnosis and Management of the Menopause contains 10 key messages:

Management of estrogen deficiency needs to be individualized because women respond differently to the condition and to treatment for it.

Inappropriate use of testing of FSH for diagnosis of menopause in women older than age 45 should be eliminated. The testing is rarely required and expensive.

Women need information about menopause in a variety of formats. Key topics for counseling include the stages and consequences of menopause and about use of contraception during perimenopause.

For management of symptom sof menopause, diet and lifestyle should be considered. HRT should be offered for vasomotor symptoms with full consideration of benefits and risks. Clonidine or antidepressants should not be routinely offered.

Women with a history of breast cancer should be counseled about all treatment options for menopausal symptoms. Those taking tamoxifen should not be given fluoxetine orparoxetine.

Vaginal estrogen can be used longterm in patients with urogenital atrophy due to estrogen deficiency. It can also be considered for women who are not candidates for HRT because of medical conditions.

Follow-up with a health care provider is recommended 90 days after a patient starts HRT and annually thereafter. Referral to a provider with experience in menopause may be necessary for a patient with a complex medical history.

There should be no arbitrary limits for duration of use of HRT. Healthcare providers should provide support for women who want a trial cessation of HRT to see if they still need it to control their symptoms.

Benefits and risks of HRT vary from patient to patient and are strongly influenced by baseline risk, which is affected by diet, lifestyle, and past medical and family history.

Blood tests should be used to confirm premature ovarian insufficiency(POI). For women with POI, HRT or combined oral contraceptives are appropriate at least until they reach the average of menopause.

NICE is an independent body responsible for driving improvement and excellence in the UK health and social care system. The organization develops guidance, standards and information on high-quality health and social care and advises on ways to promote healthy living and prevent ill health.

The NICE guideline on menopause for health care providers is available at

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Menopause updates – ModernMedicine

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Edina clinic ranked in top 10 in state – The Sun Current

Posted: at 5:44 pm

Dr. Donna Block opened Clinic Sofia in Edina in 2004 to nurture women to stay healthy and strong for their families and their community. (Submitted photo)

Clinic Sofia provides care for women

By Cynthia ParsonsContributing Writer

In 2004, when Dr. Donna Block founded Clinic Sofia, an OBGYN clinic, she envisioned a better approach to womens health care by giving women the nurturing, insight and guidance they need from adolescence to obstetrics to menopause and beyond.

Named after the Greek goddess of wisdom, Clinic Sofia focuses on women because they are the primary pivot point in their family.

We offer a non-judgmental environment that welcomes and provides answers to questions, Block said. We give you the tools to stay healthy. We provide a safe and healthy culture. I get women who have been elsewhere who were treated rudely by the front desk with no eye contact.

At Clinic Sofia, we are engaging and calm, Block continued. We are welcoming from the front desk to the back of the clinic. Focus is on our patients needs, and patients dont feel rushed. If you have an ultrasound, for example, we go over the results right away.

The Edina clinic recently ranked sixth among all medical clinics in Minnesota for patient satisfaction (according to the August 2017 Minnesota Community Measurement Survey).

Dr. David Clay, Dr. Erin Stevens and Dr. Deborah Krahl recently joined the growing team at Clinic Sofia. Between Edina and Maple Grove (which opened in 2012), they have six physicians, one nurse practitioner, one physicians assistant, three ultrasonographers, three nurses, phlebotomists and medical assistants.

Clinic Sofia makes it their mission to offer personalized care in a welcoming setting. The clinics offices are very serene, feminine and calming. Same day appointments are available, and they accommodate patients schedules as best they can. The clinic also offers functional medicine consulting, which demonstrates how in tune they are with meeting the comprehensive needs of todays women.

In functional medicine, we see the body as an interconnected whole, within a larger environment, Physician Assistant Allie Nowak said. We recognize that in order to treat one part of the body, all parts need to be considered.

The types of patients and conditions Nowak sees for consultation include: polycystic ovary syndrome, perimenopause, menopause, thyroid disorders, fertility, anxiety and depression.

Functional medicine aims to address the root cause of disease rather than symptom management and emphasizes preventative health.

We look at lifestyle changes and a patients biochemical background, Block said. We look at the genetic profile of each person. There might be a gluten sensitivity or sugar interference or fructose intolerance in food digestion. We look at how the body uses nutrients. We recommend folate acid and not folic acid. Folate is more bioavailable and helps a developing baby and you.

Block also provides hormone replacement therapy, which is very individualized. She might try nutrition first. She suggests getting rid of too much sugar in the diet or reducing processed foods and moving towards organic foods and adding exercise and stress reduction. Physician Assistant Allie Nowak loves how functional medicine looks at each patient through an individual lens to promote optimal wellness. (Submitted photo)

Practicing since 1987, Block is trained in Western medicine but also recommends other alternatives such as acupuncture to increase fertility. Block doesnt understand how it works but she has seen it work in her patients. Fifty percent of the time, women primarily come to the clinic for overall general health and examination with gynecology. The other 50 percent of the time, women come in with high-risk pregnancy, normal pregnancy, miscarriages, bleeding, decreased libido, hair loss and fertility issues.

Block services a wide variety of age groups from 17 years old to 80 years old, and she recommends women continue to have a gynecological exam every year, even after menopause. That way, patients have a greater chance for detection of cancer of the uterus, outside of the labia, vagina, fallopian tubes, breast lumps or HPV.

Block stressed that all Clinic Sofia employees nurture women to stay healthy so they can take care of their loved ones. Healthy women form a strong society from the home to the community, she said.

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Lynchburg firefighters have boots on the ground to fill the boot for muscular dystrophy – Lynchburg News and Advance

Posted: September 5, 2017 at 9:42 pm

This year, collecting donations to go toward research for treating muscular dystrophy during the Lynchburg Fire Departments Fill the Boot campaign has a different meaning for David Cox.

Cox had worked for the department for more than 15 years but retired at the beginning of August after he was diagnosed with Myasthenia Gravis, a neuromuscular disease, at the end of May. Like other muscular dystrophy-related diseases, Myasthenia Gravis weakens muscles as an autoimmune disease that damages connections between nerves and muscles, according to the Muscular Dystrophy Association. Hed participated in the departments fundraisers for the Muscular Dystrophy Association for years and decided to come back post-retirement to help out again this year.

It really does mean more now, you know, he said. Out here today, my legs were shaking this morning I was like, I dont know if Im going to do it, but I said, Why not? Its for a good cause. I can suck it up for three or four hours and just do it.

Some days, Cox said he can only take a few steps before becoming exhausted and needing to rest 10 to 15 minutes, whereas he was able to exercise normally before starting to get sick.

Ive seen both sides of the spectrum Ive seen people who are in worse shape than I am and people that are in better shape than I am and its because of the donations from these folks going to this research, he said. Im first hand, and I can see that its working because without the medicines, I wouldnt be standing here right now.

Although he retired from the Lynchburg Fire Department, Cox also has volunteered with the Altavista Fire Company. With his own medications costing hundreds of dollars per month, he said the decreased financial burden on those with muscular dystrophy, the research and opportunities for free childrens summer camp sessions are worthwhile donations that hes seen at work.

Lynchburg firefighters started out stationed around city shopping centers and watering holes to collect money Monday and will keep at it until Sunday. Cox stood outside the Wards Road Walmart on Tuesday afternoon collecting money alongside a handful of firefighters from the Fort Avenue station. Fire Capt. Matt Smith said personnel had collected a decent chunk of change Monday over a relatively short period of time with boots in hand.

Smith and the others were in and out of the entrance into the stores between calls, since theyre still on duty. Others from their station were out by the Wards Road Target store, since Smith said they want to be visible during peak hours when they know people will be out and about. Their station has a bit of leg up with firefighters collecting from their first due area, within which theyre expected to respond to emergencies first, they have shopping and Liberty University traffic to ask for donations.

We always want to beat our previous years totals, but every penny goes to helping, so well take whatever is given, Smith said.

Lynchburgs Fill the Boot collected about $22,000 in 2016, according to fire department Capt. Abbey Johnston, who coordinates the departments collections for the Muscular Dystrophy Association.

The fire department has been working up to the amounts theyd raised years ago, when they could stand in intersections with the boots. When Lynchburg ordinances changed in the mid-2000s to restrict panhandling, both Johnston and Smith said their collection took a dent. Now, the department has to get permission from businesses to collect.

It took us a while to figure out how to adjust from not being in the streets; of course, this is much safer for us, Smith said.

This years fundraising for the association will accompany proceeds from the departments sale of the Women of the LFD calendar, an effort Johnson put together. Between the calendar and Fill the Boot efforts, she said the department hopes to surpass previous years donations.

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Lynchburg firefighters have boots on the ground to fill the boot for muscular dystrophy – Lynchburg News and Advance

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Jerry Lewis’ work pays off in new drugs for muscular dystrophy … – Allentown Morning Call

Posted: at 9:42 pm

For more than four months, Bethlehem blogger Shane Burcaw waited anxiously for a call about his future.

Whenever my phone rings with the hospitals number, my body goes into complete panic nervous sweats, rapid heart rate as I prepare for what could either be the best or worst news of my entire life. Burcaw wrote on his blog, Laughing at my Nightmare.

Spinal muscular atrophy has kept him in a wheelchair since he was 2 years old, preventing him from keeping his muscles. On the blog, Burcaw, 25, shares amusing observations, happy moments and painful experiences with half a million followers. That has led to book deals, speaking engagements and a nonprofit organization that helps people with muscle diseases buy equipment.

In late June, the call Burcaw was waiting for came. He found out his insurance will cover the first drug approved by the government to treat his disease. Spinraza, which costs $750,000 the first year, and $375,000 every year after that.

His first drug injection, which he received a couple of weeks ago, is expected to help him maintain, and maybe even gain, strength.

He said his second would occur around Labor Day, a holiday many associate with efforts to find a treatment for muscular dystrophy, a neuromuscular disease associated with spinal muscular atrophy. Comedian Jerry Lewis, who died in August, spent decades raising money for the Muscular Dystrophy Association through the Labor Day telethon and lobbied Congress for research funding. When he retired, the MDA told the Los Angeles Times that Lewis had raised $2.5 billion for the organization, which funds research into Duchenne muscular dystrophy, spinal muscular atrophy and other related diseases.

About a year before Lewis died, breakthrough drugs for some of those diseases began to hit the market.

Burcaw is trying to keep his hopes from flying too high. But he cant help but imagine how his life might change. He hopes to play video games again, a simple pleasure he lost in the last year to his disease. He hopes to eat and talk without getting tired and giving up. He hopes to lift his arms above his head again.

Its been an odd and confusing, and equally exciting and terrifying and stressful couple of months, he said in a recent interview.

Before I knew about [Spinraza], I had looked 10 years into the future and wondered where Id be physically, if I could sit up right, breathe on my own, or eat on my own, he said. Then comes this drug that basically gives me the guarantee that Ill be able to do all those things down the road.

Spinraza manipulates genes to produce a protein thats lacking in spinal muscular atrophy patients so that the body can keep motor nerves and prevent muscle decay. The drug, developed by Ionis Pharmaceuticals in Carlsbad, Calif., is marketed by Biogen, of Cambridge, Mass. Biogen estimates that about 9,000 people suffer from spinal muscular atrophy.

In the last year, the federal government approved several drugs for degenerative muscle diseases that gave families hope, but they sell at astronomical prices. The cheapest drug, Emflaza, is priced at $35,000 a year and others are closer in cost to Spinraza. The first drug approved last year for Duchenne muscular dystrophy, Exondys 51, costs $300,000 a year. And Radicava, a drug approved in May for Lou Gehrig’s disease, costs $146,000 annually.


Shane Burcaw, seen here at his Bethlehem home, blogs about his life with spinal muscular atrophy. For the first time, a drug is available to treat the disease but the cost is astronomical.

Shane Burcaw, seen here at his Bethlehem home, blogs about his life with spinal muscular atrophy. For the first time, a drug is available to treat the disease but the cost is astronomical. (CHRIS SHIPLEY/THE MORNING CALL)

Drugs for rare diseases such as Duchenne muscular dystrophy and spinal muscular atrophy are sold to as few as thousands of people. That small demand has kept companies from making such drugs. In 1983, a law was passed to encourage companies to develop drugs for rare diseases by providing tax incentives for clinical trials, accelerating regulatory reviews and allowing companies to exclusively produce the drugs for a longer period of time than drugs for common diseases.

Dr. Bruce Cohen, a neurologist in Akron, Ohio, and a fellow of the American Academy of Neurology, said its harder to lower prices for rare disease drugs because companies spend tens of millions of dollars to make a drug that might not break even with six-figure price tags.

There’s no good guy or bad guy, he said.

A better way to pay for such drugs, he said, is by spreading the risk equally, meaning all those paying into insurance would absorb the cost.

Some insurance companies have refused to pay for some drugs, citing what they say is insufficient evidence of effectiveness. And some are only willing to pay for drugs for patients in certain age ranges or who arent in advanced stages of a disease. Medicaid and Medicare coverage of expensive drugs varies from state to state and person to person. Pennsylvanias medical assistance program pays for Spinraza, Exondys 51 and Emflaza if patients meet certain medical guidelines. The state has not yet decided whether it will cover Radicava, the newest drug, a state Human Services Department spokeswoman said.


Shane Burcaw in August just received the first infusion of the drug that can stop his disease.

Shane Burcaw in August just received the first infusion of the drug that can stop his disease. (CHRIS SHIPLEY/THE MORNING CALL)

Burcaw said that while his insurance will cover the treatment now, that could change in May when he turns 26, the last year young people can stay on their familys health insurance, and has to purchase his own insurance plan.

I feel like I should be celebrating and going wild, but theres all this other stuff to think about, he said.

Financial concerns aside, Burcaw knows that his drug injections can alter his future if they are effective in stopping the disease or saving nerve cells that are about to die.

The younger the patient, the better the drug works, said Dr. Terry Heiman-Patterson, an Allentown neurologist who has been treating Burcaw for many years. The drug can preserve motor nerve cells that keep muscles working, but it cannot revive nerve cells that have died.


Shane Burcaw is seen here at home next to a retrofitted van.

Shane Burcaw is seen here at home next to a retrofitted van. (CHRIS SHIPLEY/THE MORNING CALL)

Two weeks after Spinraza hit the market, Heiman-Patterson diagnosed a 6-week-old baby with spinal muscular atrophy. And for the first time in her career, she could tell parents their child had a chance to live a healthy life.

This may be the drug everybodys waiting for, she said.

Once a week, 14-year-old Ethan Pyles lies on his couch as a nurse inserts a syringe through a port in his chest. For two hours, he gets the first and only drug that can potentially slow down his Duchenne muscular dystrophy, a genetic disorder thats deteriorating his muscles and taking away his ability to walk, breathe and take care of himself.

Ethan, a representative for Lehigh Valleys Muscular Dystrophy Association, participated in the clinical trial that led to the approval of Exondys 51 last year. Hes a passionate advocate for the drug, which unlike Spinraza, only promises to slow down the disease and only will help 13 percent of the 9,000 to 12,000 people with Duchenne muscular dystrophy in the country.

Ethan is hoping for more.

Theres no doubt in my mind, before I stop walking or I get my angel wings, theres going to be a cure, he said.

His mother, Sandra Katzin, is more realistic, knowing the disease is fatal.

She leaves the living room when he expresses his hopes.

Mom, stop crying, Ethan tells her.

Since 2015, Ethan, who lives in Reading, has been taking Exondys 51, which Ashutosh Kumar, his doctor at Penn State Hershey Medical Center, says has likely helped him keep enough muscle strength to walk. Typically, people with Duchenne lose their ability to walk by 14, he said.

Hes walking without any support. He comes to the clinic from the parking area without any support. Thats quite significant, he said.

Kumar, a pediatric neurologist who ran a clinical trial for Exondys 51, said the drug could prolong Ethans life from years to decades.

The drug, made by Sarepta Therapeutics of Cambridge, Mass., manipulates genetic material to skip over mutations, allowing the body to make a protein called dystrophin that keeps muscle cells intact.

Duchenne muscular dystrophy is a hereditary genetic defect that prevents a person from making the dystrophin protein. It involves a mutation on the X-chromosome and affects mostly boys because they dont have a second X-chromsome to compensate for the mutation.

The U.S. Food and Drug Administration approved Exondys 51 but still requires clinical trials to prove its effectiveness. The agency said it expedited its approval, despite an advisory panels position against the decision, because of initial evidence of its positive effect on patients, who lack other drug options.

Soon after the approval came, Anthem the largest for-profit managed health care company in the Blue Cross and Blue Shield Association announced it would not cover the drug because the company was not convinced of its effectiveness. Humana, with more than 13 million customers, said it would only cover the drug for patients who can still walk. Highmark, an insurance company that serves the Lehigh Valley, covers Emflaza, Radicava and Spinraza for some people, but has not yet decided whether it will cover Exondys 51, according to a company spokesman.

Sandra Katzin is frustrated by the insurance companies wait-and-see approach.

Time is what our boys dont have, she said.

Her insurance covers Ethans treatment, which totals $600,000 a year. At 160 pounds, Ethan needs a double dose.

Katzin, who works for Berks County, worries about maintaining her insurance and about changes in Medicaid that would add to their expenses since medical assistance pays for the aide who looks after Ethan when his mother is at work.

Our plates are seriously full now, she said. And then we might have more things to worry about regarding if it is affordable, rather than concentrating on trying to heal our children.

Katzin is concerned about more than money. She worries there might not be enough space for Ethan to move around the house in a wheelchair once he cant walk. She worries she wont be strong enough to help him move around. But most of all, she worries about how hell feel once he loses the ability to walk.

It is going to happen. How am I going to handle his emotions when it happens? she said.

Ethan, like most teenagers, tries not to worry.

Never discouraged by his disability, he loves to play basketball, looks forward to gym class and plans to be a marine biologist someday.

He can walk, but not for long periods of time. He uses his arms to lift himself off the couch. He can no longer get up off the floor on his own.

As he waits for the medication to make its way through his body on a summer morning, Ethan watches Discovery Channel. Its Shark Week and hes focused on the ocean, on his future.

Burcaw has grown accustomed to the stares and awkward questions: Why is his head so big but his body so small?

As a teenager, he wondered if he would date and fall in love.

That wasnt a part of my life. Girls were not going to be interested in me because of my wheelchair, he thought at the time.

As an adult, he put up with people who would talk to him as if he were a young child.

As I got older, I realized those types of reactions were really from a lack of knowledge, he said.

He doesnt mind the questions anymore.

He noticed early on that a quip or well-timed joke helped bridge the gap. So he started sharing the humor in painful situations whether about his mission to find the softest food possible or how his X-shaped tattoo doubled as a marker for the Spinraza injection.

Humor has always helped me feel I belong and fit in more, he said. It catches people off-guard when they realize Im funny and it helps them see me in a different light.

Borrowing from the humorous memoir style of David Sedaris, Burcaw began blogging about his life while he was a student at Moravian College in Bethlehem, sharing some of those stories in Morning Call columns. He also began dating at that time and started Laughing at My Nightmare Inc., a nonprofit that he and his cousin Sarah Tunusov run.

Im caring, kind, funny and smart, Burcaw acknowledged.

And people, he has found, are interested in what he has to say.

He contradicts stereotypes about disabled people. He has a job and a girlfriend and hes helping others through the nonprofit, which buys equipment for people with neuromuscular diseases. So far, the organization has given out 32 grants.

People are always shocked I have a job, he said. They dont think I contribute to society.

Mostly, he wants people to know that his life, anyones life, is about more than a disease. And that while lifes problems are inevitable, we can choose to laugh at them.

I have a disease called spinal muscular atrophy that will eventually kill me, he writes in the introduction to his blog. I have been in a wheelchair since I was 2. I love to laugh, and my life is pretty funny. Allow me to share…

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Europe Limb-Girdle Muscular Dystrophy Market and Competitive Landscape 2017-2021 – Research and Markets – Business Wire (press release)

Posted: at 9:42 pm

DUBLIN–(BUSINESS WIRE)–The “Europe Limb-Girdle Muscular Dystrophy Market and Competitive Landscape – 2017” report has been added to Research and Markets’ offering.

The latest research, Europe Limb-Girdle Muscular Dystrophy Market and Competitive Landscape – 2017, provides comprehensive insights into Limb-Girdle Muscular Dystrophy pipeline, epidemiology, market valuations, product sales, market forecast, product forecasts, and market shares. This study accurately estimates and forecast Limb-Girdle Muscular Dystrophy market size and drug sales. This research also provides insights into Limb-Girdle Muscular Dystrophy epidemiology and late stage pipeline.

The report is classified into nine sections – Limb-Girdle Muscular Dystrophy overview with definitions, symptoms, etiology, diagnosis, treatment options; Limb-Girdle Muscular Dystrophy pipeline insights covering late stage clinical trials pipeline; Limb-Girdle Muscular Dystrophy prevalence trends by countries; Limb-Girdle Muscular Dystrophy market size and forecast by countries, market events, trends; product sales and forecast by countries; market shares by countries. The research scope includes EU5 countries – Germany, France, Italy, Spain, UK, Europe.

Key Topics Covered:

1. Limb-Girdle Muscular Dystrophy: Disease Overview

2. Limb-Girdle Muscular Dystrophy Pipeline Insights

3. Limb-Girdle Muscular Dystrophy Epidemiology Analysis

4. Germany Limb-Girdle Muscular Dystrophy Market Insights

5. France Limb-Girdle Muscular Dystrophy Market Insights

6. Italy Limb-Girdle Muscular Dystrophy Market Insights

7. Spain Limb-Girdle Muscular Dystrophy Market Insights

8. UK Limb-Girdle Muscular Dystrophy Market Insights

9. Europe Limb-Girdle Muscular Dystrophy Market Insights

10. Research Methodology

For more information about this report visit

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Europe Limb-Girdle Muscular Dystrophy Market and Competitive Landscape 2017-2021 – Research and Markets – Business Wire (press release)

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Investigating the genetics behind muscular dystrophy in dogs – BMC Blogs Network (blog)

Posted: at 9:42 pm

The sequencing of the canine genome along with next generation sequencing technologies like whole exome sequencing have facilitated quicker, easier and more efficient identification of genes and mutations that can cause diseases in dogs. In a study published in Skeletal Muscle researchers have used these technologies to study a form of Limb-girdle muscular dystrophy (muscle wasting and weakness in shoulder and hip muscles) in Boston terriers. Here to tell us about the research and what this means for the breed is lead author of the study Melissa L. Cox.

Melissa L. Cox 5 Sep 2017

Dogs live with humans, and have access to medical care nearly as sophisticated as ours. We are also close in other ways: sharing approximately 85% of our genome that is our complete sets of genes any naturally occurring gene mutation that may cause a disease in dogs is likely to cause a similar condition in humans, and vice versa. Dogs can serve as models of human disease; for example, treatments such as gene therapy can be tried in dogs before going into clinical trials in humans, which can benefit both species.

The sequencing of the canine genome greatly increased the speed and efficiency with which genes that cause disease can be detected. It has also facilitated research into the origin of dogs and the search for genes that underlie specific traits in dogs, such as height and skull shape, and many hereditary diseases. Next generation sequencing (NGS), including whole exome sequencing (WES) technologies which allow geneticists to determine the precise order of nucleotides within DNA and RNA molecules much more quickly and cheaply than before and the establishment of publically available databases has also allowed for easier identification of genes and mutations that may cause disease.

LGMDs are a varied group of Mendelian disorders characterized by muscle wasting and weakness in the muscles of the shoulders and hips

Our group made use of these technologies to study a form of Limb-girdle muscular dystrophy (LGMD) in Boston terrier dogs. LGMDs are a varied group of Mendelian disorders diseases caused by single genes that are inherited according to Mendels laws characterized by muscle wasting and weakness in the muscles of the shoulders and hips. Four affected dogs from three unrelated families were identified by their primary veterinarians, and referred for specialized investigation.

Clinical examination and pathology results confirmed that all affected dogs were suffering from LGMD, and immunohistopathological assays, which use antibodies that bind to certain tissues to reveal their presence, suggested a sarcoglycanopathy that is a disease resulting from mutations in one of four genes that code for a certain type of protein, called a sarcoglycan. Sarcoglycanopathies are autosomal recessive, and have severe symptoms similar to Duchenne muscular dystrophy.

The group originally looked at four Boston terriers affected by LGMD from three unrelated families.

There are six sarcoglycan proteins, four of which (, , , ) are involved in structural and signal functions in muscle. The absence of the sarcoglycans from the muscle of affected dogs made the genes that code for these proteins our candidate genes, and whole exome sequencing allowed us to investigate them simultaneously.

DNA was available from two of the four dogs, and from several relatives of one of the dogs. Whole exome sequencing was performed on a total of 5 dogs, including the two dogs that had the disease and an obligate carrier a dog that didnt have the disease but which had to carry the gene mutation based on analysis of the family history. In one affected dog (Case 3), we found that two nucleotides the buildings blocks of DNA were deleted in one of the sarcoglycan genes. The dogs obligate carrier parent and one other relative each also had one copy of the deletion.

The other affected dog (Case 1) did not share this mutation, which was very surprising to us, given that they were the same breed. Breed structures limit genetic diversity, because dogs are only bred to other dogs of the same breed. This increases the chance that any two dogs will be related, and that they will carry a mutation that is identical by descent, that is, inherited from a shared ancestor. For this reason, most dogs in a breed with the same disease will share the same gene mutation.

This is also a good reminder to the animal breeding and veterinary community that even within one breed, a disease may be caused by more than one mutation

Further analysis showed that Case 1 had a different deletion in the same gene as Case 3. We hypothesize that the dogs have very similar phenotypes because the same portion of the protein coded by the gene is eliminated in the two different mutations.

We screened 200 more Boston terriers from North America and Europe, as well as a large variety of other breeds, and these mutations were not found outside of these two cases and family members. This is good news for the breed, as it appears that these are private mutations, found only in these two families. Although we have developed genetic tests for these two mutations, it will not be necessary for breeders of Boston terriers to add LGMD testing to their routine genetic screening at this time.

This is also a good reminder to the animal breeding and veterinary community that even within one breed, a disease may be caused by more than one mutation. For this reason, it is best practice for testing laboratories to indicate which specific mutation(s) have been tested when writing reports.

The two mutations were found in the sarcoglycan gene SGCD, which has been classified as Limb-girdle muscular dystrophy 2F (LGMD2F) (the number 2 denotes that it is an autosomal recessive gene, while F is the gene name). LGMD2F is the least common form of sarcoglycanopathy in humans, so our report of the first large animal model of sarcoglycanopathy may also be of interest to human medicine.

The work also demonstrates the utility of whole exome sequencing to identify mutations in an extremely small number of affected animals. This allows mutations to be identified more quickly than in the past, as it is not necessary to gather samples from large family groups. The early establishment of a genetic testing program to distinguish between normal and unaffected carrier animals can therefore prevent a disease from unintentionally spreading through a breed population.

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Summit Announces Positive Top-Line Data From an Exploratory Phase 2 Clinical Trial Supporting Ridinilazole as a … – GlobeNewswire (press release)

Posted: at 9:42 pm

OXFORD, United Kingdom, Sept. 05, 2017 (GLOBE NEWSWIRE) — Summit Therapeutics plc (NASDAQ:SMMT) (AIM:SUMM), the drug discovery and development company advancing therapies for Duchenne muscular dystrophy and Clostridium difficile infection (CDI), today announces positive top-line data from an exploratory Phase 2 clinical trial that support ridinilazole as a highly selective and potent antibiotic product candidate for the treatment of CDI. In the Phase 2 clinical trial, ridinilazole preserved the gut microbiome of CDI patients to a greater extent than the marketed narrow-spectrum antibiotic, fidaxomicin. During the trials ten-day treatment period, ridinilazole treatment had markedly less impact on the gut microbiome of trial patients by measures of overall diversity and changes in key bacterial families, when compared to those trial patients dosed with fidaxomicin.

In the trial, ridinilazole and fidaxomicin both reduced the abundance of C. difficile. However, fidaxomicin-treated patients had reduced abundancy of other bacterial families associated with microbiome health. For a number of these bacterial families, the difference between the two treatments was statistically significant. Another measure of microbiome health is alpha diversity as measured by the Simpsons Diversity Index. There was a greater reduction in alpha-diversity during fidaxomicin treatment compared with ridinilazole-treated patients. These measures were a key secondary endpoint of the clinical trial and provide additional evidence of ridinilazoles precision in killing C. difficile while preserving the gut microbiome. The primary endpoint of the trial was safety, as measured by the number of treatment emergent adverse events and serious adverse events. During the trial, no new or unexpected safety signals were identified and ridinilazole was well-tolerated.

We increasingly recognise the importance of a healthy and diverse gut microbiome for protection against recurrent CDI, which is a major challenge in the management of the disease. These latest clinical findings show ridinilazole better preserved the microbiome of CDI patients than fidaxomicin, the narrowest spectrum antibiotic currently available for CDI, commented Professor Mark Wilcox, Consultant Microbiologist & Head of Microbiology Research & Development at the Leeds Teaching Hospitals NHS Trust, Professor of Medical Microbiology at the University of Leeds, and Public Health England’s Lead on C. difficile in England. Further, these microbiome data are very supportive of ridinilazoles profile as a highly selective antibiotic with the potential to achieve a meaningful improvement in clinical outcomes for CDI patients.

The exploratory open-label Phase 2 clinical trial enrolled 27 patients aged between 18 and 90 years at trial sites in the US, the UK and the Czech Republic. Patients were randomly assigned to receive either ridinilazole (200mg, twice a day) or fidaxomicin (200mg, twice a day) for ten days. The trial population was unbalanced with more patients randomised to ridinilazole at higher risk of poorer clinical outcomes as measured by ATLAS score, and also with predisposing factors for recurrent CDI.

A secondary endpoint of sustained clinical response (SCR), defined as clinical cure at the end of treatment and no recurrence of CDI within the next 30 days, was achieved in seven of 14 ridinilazole treated patients and six of 13 fidaxomicin treated patients. The trial was not designed for efficacy comparisons due to the small number of patients.

Dr David Roblin, Chief Medical and Operating Officer of Summit added, Ridinilazole is a precision antibiotic that is designed to selectively target C. difficile while being highly preserving of the gut microbiome that plays a crucial role in naturally protecting against recurrent CDI. Ridinilazole has now provided evidence of its high selectivity in two complementary clinical trials. The data from our earlier Phase 2 trial showed a greater microbiome preservation of ridinilazole-treated patients compared with the current standard of care, vancomycin, which led to achieving statistical superiority in sustained clinical response. We believe ridinilazole has the potential to become a front-line therapy for CDI and look forward to initiating Phase 3 clinical trials in the first half of 2018.

More detailed findings from this trial are expected to be presented at an upcoming international infectious disease conference. The results build on positive data from a Phase 2 proof of concept trial of ridinilazole that were published in The Lancet Infectious Diseases in April 2017. Ridinilazole is currently being prepared for Phase 3 clinical trials that are planned to commence in the first half of 2018.

AboutC. difficileInfectionC. difficileinfection is a serious healthcare threat in hospitals, long-term care homes and increasingly the wider community with over one million estimated cases of CDI each year inthe United StatesandEurope. It is caused by an infection of the colon by the bacteriumC. difficile, which produces toxins that cause inflammation and severe diarrhoea, and in the most serious cases can be fatal. Patients typically develop CDI following the use of broad-spectrum antibiotics that can cause widespread damage to the natural gastrointestinal (gut) flora and allow overgrowth ofC. difficilebacteria. Existing CDI treatments are predominantly broad spectrum antibiotics, and these cause further damage to the gut flora and are associated with high rates of recurrent disease. Reducing disease recurrence is the key clinical issue as repeat episodes are typically more severe and associated with an increase in mortality rates and healthcare costs. The economic impact of CDI is significant with one study estimating annual acute care costs at$4.8 billionin the US.

About RidinilazoleRidinilazole is a small molecule antibiotic that Summit is developing for the treatment of CDI. In preclinical efficacy studies, ridinilazole exhibited a targeted spectrum of activity that combined a potent bactericidal effect against all clinical isolates ofC. difficiletested with minimal impact on other bacteria that are typically found in the gut microbiome. In a Phase 2 proof of concept trial in CDI patients, ridinilazole showed statistical superiority in sustained clinical response (‘SCR’) rates compared to the standard of care, vancomycin. In that trial, SCR was defined as clinical cure at end of treatment and no recurrence of CDI within 30 days of the end of therapy. Ridinilazole was also shown to be highly preserving of the gut microbiome in the Phase 2 proof of concept trial, which was believed to be the reason for the improved clinical outcome for the ridinilazole-treated patients. Ridinilazole, an orally administered small molecule, has received Qualified Infectious Disease Product (‘QIDP’) designation and has been granted Fast Track designation by the US Food and Drug Administration. The QIDP incentives are provided through the US GAIN Act and include an extension of marketing exclusivity for an additional five years upon FDA approval.

About Summit Therapeutics Summit is a biopharmaceutical company focused on the discovery, development and commercialisation of novel medicines for indications for which there are no existing or only inadequate therapies. Summit is conducting clinical programs focused on the genetic disease Duchenne muscular dystrophy and the infectious disease C. difficile infection. Further information is available at http://www.summitplc.comand Summit can be followed on Twitter (@summitplc).

For more information, please contact:

Forward-looking StatementsAny statements in this press release about Summits future expectations, plans and prospects, including but not limited to, statements about the clinical and preclinical development of Summits product candidates, the therapeutic potential of Summits product candidates, and the timing of initiation, completion and availability of data from clinical trials, and other statements containing the words “anticipate,” “believe,” “continue,” “could,” “estimate,” “expect,” “intend,” “may,” “plan,” “potential,” “predict,” “project,” “should,” “target,” “would,” and similar expressions, constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: the uncertainties inherent in the initiation of future clinical trials, availability and timing of data from on-going and future clinical trials and the results of such trials, whether preliminary results from a clinical trial will be predictive of the final results of that trial or whether results of early clinical trials or preclinical studies will be indicative of the results of later clinical trials, expectations for regulatory approvals, availability of funding sufficient for Summits foreseeable and unforeseeable operating expenses and capital expenditure requirements and other factors discussed in the “Risk Factors” section of filings that Summit makes with the Securities and Exchange Commission, including Summits Annual Report on Form 20-F for the fiscal year ended January 31, 2017. Accordingly, readers should not place undue reliance on forward-looking statements or information. In addition, any forward-looking statements included in this press release represent Summits views only as of the date of this release and should not be relied upon as representing Summits views as of any subsequent date. Summit specifically disclaims any obligation to update any forward-looking statements included in this press release.

This announcement contains inside information for the purposes of Article 7 of EU Regulation 596/2014 (MAR).


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Summit Announces Positive Top-Line Data From an Exploratory Phase 2 Clinical Trial Supporting Ridinilazole as a … – GlobeNewswire (press release)

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Top stories: Why Costa Rica’s crocodiles are changing sex and an … – Science Magazine

Posted: at 9:42 pm

(Left to right): Heidi and Hans-Juergen Koch/Minden Pictures; Zephyr/Science Source; Robert Blanken

By Giorgia GuglielmiSep. 1, 2017 , 3:05 PM

Something is changing the sex of Costa Rican crocodiles

After probing and peering at the genitalia of nearly 500 crocodiles in Palo Verde, Costa Rica, a team of ecologists found something odd: The sex ratio was way out of whack, with males outnumbering females four to one among hatchling crocs. The researcherslater discovered that the animals tissues are tainted with a synthetic hormone that may be causing them to switch sex.

Anti-inflammatory cuts risk of heart attack

A clinical trial of more than 10,000 heart attack patients supports a novel way to protect them from a stroke or a second attack: with drugs that stop inflammation. The approach has been advanced by some scientists for years, but this is the first trial to conclusively show that it works. Cardiologists hailed the study, reported this week, as vindication for the heart attackinflammation link, which hadnt been provedin people.

Modified T cells that attack leukemia become first gene therapy approved in the United States

The U.S. Food and Drug Administration this week approved a new cancer therapy that involves genetically modifying a patients immune cells to kill leukemia cells. The therapy, developed by the pharma giant Novartis, is the first such treatment to be approved in the United States.

Asthma drug may thwart Parkinsons disease

When people with asthma have trouble breathing, they may reach for an inhaler containing salbutamol, a drug that expands the airways. Salbutamol may have another beneficial effectprotecting against Parkinsons disease. Individuals who inhaled the highest doses of salbutamol were about half as likely to develop the devastating neurological condition as those who didnt take the drug, a new study reveals.

Why some baby bees are destined to become workersor queens

The saying you are what you eat is particularly true for female honey bees, which grow up to be either small, sterile workers or large, fertile queens depending on their diet. Previously, researchers thought that something in the food fed to young queensa secretion called royal jellywas what made the difference. Now, a study suggests its signaling molecules in the grub of young worker bees that keeps their sexual development in check.

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Top stories: Why Costa Rica’s crocodiles are changing sex and an … – Science Magazine

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hormone replacement therapy – North American Menopause …

Posted: at 9:40 pm

Hormone therapy (HT) is one of the government-approved treatments for relief of menopausal symptoms. These symptoms, caused by lower levels of estrogen at menopause, include hot flashes, sleep disturbances, and vaginal dryness. HT is also approved for the prevention of osteoporosis. Today, clinicians prescribe much lower doses for much shorter terms (3-5 years) than before 2002.

To begin this discussion about the benefits and risks of menopausal HT, here is some background information.

There are three benchmark stages of natural menopause:

There are two basic types of HT:

There are two general ways to take HT:

Current prescribing practice:

Begin HT with the lowest effective dose for the shortest amount of time consistent with their individual goals. The benefit-risk ratio is favorable for women who initiate HT close to menopause (ages 50-59, typically) but becomes riskier with time since menopause and advancing age.

Women with early menopause before age 40 without a history of breast cancer risk can take HT until the typical age of menopause at 51 if there is no reason not to take it.

Clinicians will recommend an individualized plan for each woman. There is no one size fits all therapy.

Literally hundreds of clinical studies have provided evidence that systemic HT (estrogen with or without progestogen) effectively helps such conditions as hot flashes, vaginal dryness, night sweats, and bone loss. These benefits can lead to improved sleep, and sexual relations, and quality of life.

The primary indications for HT are hot flashes, night sweats, vaginal dryness, and prevention of osteoporosis.

In order to minimize serious health risks, HT is recommended at the lowest effective dose for the shortest time period. The real concern about hormone safety is with long-term use of systemic ET or EPT.

As a result of the Womens Health Initiative (WHI) trial in 2002, the US Food & Drug Administration and Health Canada require all estrogen-containing prescription therapies to carry a black box warning in their prescribing information about the adverse risks of HT. Although only two products were studied in the WHI, Premarin and Prempro, the risks of all HT products, including natural bioidentical and compounded hormones, should be assumed to be similar until evidence shows otherwise.

Most of the risk of breast cancer is associated with EPT. Both ET and EPT have been associated with stroke and an increase in blood clots in the veins. These risks are higher in women over age 60.

For women with a uterus, progestogen must be prescribed along with estrogen to protect her against uterine cancer.

There is no single way to ensure the best possible quality of life around menopause and beyond. Each woman is unique and must weigh her discomfort against her fear of treatment. Risk is defined as the possibility or chance of harm; it does not indicate that harm will occur. Generally, HT risks are lower in younger women than originally reported in all women ages 50 to 70 combined. It is now believed that women taking estrogen alonewomen who have had their uterus removed by a hysterectomyhave a more favorable benefit-risk profile than those taking EPT. This is especially true for younger menopausal women (in their 50s or within 10 years of menopause) than for older women.

Medical professionals have modified their views about the role of hormones as more research has been conducted. Experts agree that there is much they still have to learn. Although recent studies such as the WHI have provided some clarity for large populations, they dont necessarily address all of the issues an individual woman faces. Only she, with the counsel of her healthcare providers, can do that.

Many factors will be part of a womans decision to use a particular hormone producther age, her risks, her preferences, available treatment options, and the cost of the product. Do her potential benefits outweigh her potential risks? Only after examining and understanding her own situation and after a thorough consultation with her clinician can a woman make the best treatment choice. As new therapies and guidelines are available, and as a womans body changes over time, reevaluation and adjustments should be made.

For more information, continue to visit this website where the latest reports about menopause and HT are regularly discussed.

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