Page 11234..1020..»

Category Archives: Muscular Dystrophy Treatment

Stem Cells From Young Hearts Could Rejuvenate Old Hearts – Technology Networks

Posted: August 16, 2017 at 9:47 pm

Cardiac stem cell infusions could someday help reverse the aging process in the human heart, making older ones behave younger, according to a new study from the Cedars-Sinai Heart Institute.

“Our previous lab studies and human clinical trials have shown promise in treating heart failure using cardiac stem cell infusions,” said Eduardo Marbn, MD, PhD, director of the Cedars-Sinai Heart Institute and the primary investigator of the study. “Now we find that these specialized stem cells could turn out to reverse problems associated with aging of the heart.”

In the study, investigators injected cardiosphere-derived cells, a specific type of stem cell known as CDCs, from newborn laboratory rats into the hearts of rats with an average age of 22 months, which is considered aged. Other laboratory rats from the same age group were assigned to receive placebo treatment, saline injections instead of stem cells. Both groups of aged rats were compared to a group of young rats with an average age of 4 months.

Baseline heart function was measured in all rats, using echocardiograms, treadmill stress tests and blood analysis. The older rats underwent an additional round of testing one month after receiving cardiosphere-derived cells that came from young rats.

“The way the cells work to reverse aging is fascinating,” Marbn said. “They secrete tiny vesicles that are chock-full of signaling molecules such as RNA and proteins. The vesicles from young cells appear to contain all the needed instructions to turn back the clock.”

Results of those tests show lab rats that received the cardiosphere-derived cells:

– Experienced improved heart function

– Demonstrated longer heart cell telomeres, compound structures located at the ends of chromosomes that shrink with age

– Improved their exercise capacity by an average of approximately 20 percent

– Regrew hair faster than rats that didn’t receive the cells

“This study didn’t measure whether receiving the cardiosphere-derived cells extended lifespans, so we have a lot more work to do,” said Lilian Grigorian-Shamagian, MD, PhD, co-primary investigator and the first author of the study. “We have much to study, including whether CDCs need to come from a young donor to have the same rejuvenating effects and whether the extracellular vesicles are able to reproduce all the rejuvenating effects we detect with CDCs.”

Since Marbn’s team completed the world’s first cardiac stem cell infusion in 2009, the Cedars-Sinai Heart Institute has made significant contributions to decoding and understanding how cardiac stem cells regenerate damaged heart muscle. The team is studying the use of stem cells to treat patients with Duchenne muscular dystrophy as well as patients with heart failure with preserved ejection fraction, a condition that affects more than 50 percent of all heart failure patients.

General support for Marbn’s laboratory is provided by the National Institutes of Health. The CDCs, manufactured by Capricor Inc. (NASDAQ: CAPR) as its product CAP-1002, have been used in other human clinical trials.

The process to grow cardiac-derived stem cells was developed by Marbn when he was on the faculty of Johns Hopkins University and further developed at Cedars-Sinai. Capricor has licensed the process from Johns Hopkins and from Cedars-Sinai for clinical and commercial development. Capricor has licensed additional intellectual property from Cedars-Sinai and the University of Rome. Cedars-Sinai and Marbn have financial interests in Capricor.

This article has been republished frommaterialsprovided byCedars-Sinai Heart Institute. Note: material may have been edited for length and content. For further information, please contact the cited source.

Reference:

Grigorian-Shamagian, L., Liu, W., Fereydooni, S., Middleton, R. C., Valle, J., Cho, J. H., & Marbn, E. (2017). Cardiac and systemic rejuvenation after cardiosphere-derived cell therapy in senescent rats. European Heart Journal. doi:10.1093/eurheartj/ehx454

Originally posted here:
Stem Cells From Young Hearts Could Rejuvenate Old Hearts – Technology Networks

Posted in Muscular Dystrophy Treatment | Comments Off on Stem Cells From Young Hearts Could Rejuvenate Old Hearts – Technology Networks

SHEBOYGAN Fire Fighters Support MDA with Annual Fill the Boot Drive – WHBL Sheboygan

Posted: August 15, 2017 at 1:43 pm

Tuesday, August 15, 2017 8:13 a.m. CDT by Jon DeMaster

SHEBOYGAN, Wis. (WHBL) – The Sheboygan Fire Department Local 483 is showing its support for the Muscular Dystrophy Association as its members kick off the annual Fill the Boot fundraising campaign to help kids and adults with muscular dystrophy, ALS and related muscle-debilitating diseases live longer and grow stronger. It will take place August 17th and 18th.

Continuing a more than 60 year tradition, twenty dedicated fire fighters from Sheboygan Fire Department Local 483 will hit the streets with boots in hand asking pedestrians, motorists, customers and other passersby to make a donation to MDA, they will be at the intersection of 25th and Superior and 8th Street and Erie between 11am 5:00pm both days.

We are thrilled to be working with the Sheboygan Fire Department Local 483 for another year of Fill the Boot to help provide the funds needed to find treatments and cures for muscular dystrophy, ALS and related diseases that severely limit strength and mobility, said Fundraising Coordinator Murphy Maes. The dedication of these fire fighters to MDAs mission is unwavering, spending countless hours both with Fill the Boot and MDA Summer Camp to care for the kids and adults in Sheboygan. We know that their devotion to our families will make this years drive a success.

Funds raised through Sheboygan Fill the Boot events in 2017 empower families who inspire everyday Americans to help kids and adults with Muscular dystrophy and related muscle-debilitating diseases live longer and grow stronger, displaying how we all can truly live unlimited no matter what limits we may face.

Contributions also help fund groundbreaking research and life-enhancing programs such as state-of-the-art support groups and Care Centers, including the MDA Care Center at Prevea Health in Green Bay, WI and the Marshfield Clinic in Marshfield, WI. They also help send more than 45 local kids to the best week of the year at MDA summer camp at Pilgrim Center all at no cost to their families.

In addition to Fill the Boot drives, fire fighter contributions from year-round local events, including help support MDAs efforts to raise awareness and provide professional and public education about neuromuscular diseases.

As MDAs largest national partner, the IAFF fuels MDA’s mission to find research breakthroughs across diseases; care for kids and adults from day one; and provide families with services and support.

IAFF support for MDA began in 1954 when the organization committed by proclamation to support MDA until a cure is found, and the organization’s unwavering commitment to MDA has remained strong to this day. The IAFF raised $100,000 for MDA in 1955, and $1 million in 1970, and fire fighters continue to raise the bar in their fundraising efforts. In 2016, more than 100,000 fire fighters participated in Fill the Boot events across the country and raised $25 million. To date the IAFF has raised $585.5 million for MDA.

About the IAFF: The International Association of Fire Fighters represents more than 300,000 professional fire fighters and paramedics who protect 85 percent of the nations population. More than 3,200 affiliates and their members protect communities in every state in the United States and in Canada.

About MDA MDA is leading the fight to free individuals and the families who love them from the harm of muscular dystrophy, ALS and related muscle-debilitating diseases that take away physical strength, independence and life.We use our collective strength to help kids and adults live longer and grow stronger by finding research breakthroughs across diseases; caring for individuals from day one; and empowering families with services and support in hometowns across America.

Read the original here:
SHEBOYGAN Fire Fighters Support MDA with Annual Fill the Boot Drive – WHBL Sheboygan

Posted in Muscular Dystrophy Treatment | Comments Off on SHEBOYGAN Fire Fighters Support MDA with Annual Fill the Boot Drive – WHBL Sheboygan

Researchers Develop Newborn Screening Tool for Duchenne – Muscular Dystrophy News

Posted: at 1:43 pm

Cardiff Universityscientists, partneringwith the biotech company PerkinElmer, have developed a diagnostic kit to screen for Duchenne muscular dystrophy (DMD) in newborns using dried blood spots, according to researchers.

The study, Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy, was published in the journal Clinical Chemistry.

This new diagnostic method works by detecting the presence of the enzyme CK-MM, which is elevated in patients with DMD due to muscle damage. The test was created by Dr. Ian Weeks, a professor at Cardiff Universitys School of Medicinein Wales and the lead author of the study. The test was then adapted into an existing assay developed by PerkinElmer.

The successful outcome of this study is an example of the impact that can be achieved through collaboration between academic, clinical and industry colleagues in developing improvements in human healthcare, Weeks said in a press release.

Previous attempts at developing a diagnostic kit using blood spot CK (creatinine kinase) enzyme assays were met with little success because the tests were nonspecific and the results were unreliable. This is due to the fact that prior tests could not distinguish between the three different forms of CK that are present in muscle tissue, which include CK-MM, CK-MB, and CK-BB.

CK-MB and CK-BB are also increased when there is non-DMD muscle-related injury, which can lead to inaccurate results. This has been the main reason why screening for DMD has not been incorporated into newborn screening tests.

Due to recent advances in therapies for treating DMD that have the potential to be disease-modifying, scientists have become interested in diagnosing DMD as soon as possible to treat the disease at an earlier stage.

Therefore, researchers decided to create a CK-MM assay that could be used as a potential screening tool for DMD by collaborating with PerkinElmer. They used the PerkinElmer GSP analyzer, which is a high-throughput screening tool, to test dried blood spots of newborns.

After conducting the study, researchers concluded that CK-MM could be accurately quantified in dried blood spots and that its quantification on a commercial enzyme analyzer could allow newborn screening of DMD.

This new test moves us closer to a definitive newborn screening test for Duchenne, which will give families more time to plan for the future. We are hopeful that the rapid improvements in testing will allow the rollout of a national newborn screening program in the coming years, which will allow for treatments to be delivered to the very young at the earliest possible stage, said Nic Bungay, director of campaigns, care and information at Muscular Dystrophy UK.

Pilot programs for this screening method have currently been set up by PerkinElmer in China and in the state of Wisconsin for potential widespread applicability.

Read more here:
Researchers Develop Newborn Screening Tool for Duchenne – Muscular Dystrophy News

Posted in Muscular Dystrophy Treatment | Comments Off on Researchers Develop Newborn Screening Tool for Duchenne – Muscular Dystrophy News

Mitobridge’s Investigational DMD Therapy MA-0211 to Be Tested in Healthy Volunteers in Initial Clinical Trial – Muscular Dystrophy News

Posted: August 12, 2017 at 10:45 pm

The investigational therapy MA-0211, also called MTB-1, a potential treatment for Duchenne Muscular Dystrophy (DMD), was approved for a Phase I clinical trial, developerMitobridge announced.

The trial will evaluate the therapys safety and tolerability and determine its pharmacokinetics and pharmacodynamics profile, or its behavior in the body and mechanism of action, in healthy volunteers. The data collected will then be used to launch a trial with DMD patients.

Mitobridgeis a company focusing on new small molecule therapeutics to improve mitochondrial functions. MA-0211, a modulator of peroxisome proliferator-activated receptor (PPAR) delta, was developed under the companys mitochondrial enhancement platform in collaboration with corporate partnerAstellas Pharma. It is the platforms first therapy being tested in a clinical study.

The trial was established after extensive preclinical studies, either with DMD patient samples or animalmodels for the disease, which showed MA-0211 has therapeutic benefits. DMD patients exhibit mitochondrial defects that contribute to the diseases progression.

Treatment of patient muscle cells with MA-0211 increased the expression of numerous genes involved in a key metabolic pathway known as fatty acid oxidation that occurs in mitochondria and is vital for producing the energy cells need to function properly. The treatment increased the number of mitochondria and improved their function.

Later, MA-0211 was tested in the well-established animal model for human DMD, themdxmouse. This animal model has a mutation in thedystrophin gene (the underlying cause of DMD) and exhibits many of the defective features observed in DMD patients.

Mice were administered MA-0211 once daily for five weeks. The therapy led to significant improvements, including increasing the endurance of mice while running on a treadmill. Additionally, MA-0211 reduced muscle inflammation and degeneration and decreased diaphragmscarring.

In another study where mice were treated for a longer period (six months), MA-0211 decreasedthe levels of creatine kinase in miceserumand improved their cardiac and respiratory function relative to untreatedmdxmice. Measuringcreatine kinase is used to assess muscle problems, frominflammation (myositis) tomuscle damage due to muscle disorders.

PPAR-delta modulation represents a promising therapeutic approach to improving mitochondrial function and muscle health in DMD patients, Mike Patane, Mitobridges chief scientific officer, said in apress release.

This milestone with our lead program further validates our mitochondrial enhancement platform and ability to generate promising drug candidates that modulate mitochondrial function. Our research teams are actively evaluating MA-0211 in other diseases associated with mitochondrial dysfunction and developing other novel approaches to restoring healthy mitochondria, he added.

Continued here:
Mitobridge’s Investigational DMD Therapy MA-0211 to Be Tested in Healthy Volunteers in Initial Clinical Trial – Muscular Dystrophy News

Posted in Muscular Dystrophy Treatment | Comments Off on Mitobridge’s Investigational DMD Therapy MA-0211 to Be Tested in Healthy Volunteers in Initial Clinical Trial – Muscular Dystrophy News

McLinn family champions national ‘Right to Try’ legislation – Greensburg Daily News

Posted: at 10:45 pm

INDIANAPOLIS Jordan McLinn is an eight-year-old boy with a disease with no known cure.

His condition, Duchenne muscular dystrophy, is caused by a genetic mutation that prevents the body form producing a protein that the muscles need to work properly called dystrophin. Without the protein, the muscles become damaged and weak. The disease hinders the ability to walk and breath, and eventually becomes fatal.

When we first started lobbying for the right to try in Indiana, Jordan did not qualify for clinical trials, Laura McLinn, Jordans mom, said. There was this drug that existed, kind of just dangling in front of our eyes, and my son did not qualify for a clinical trial.

The McLinn family helped get the Right to Try legislation unanimously passed in Indiana in 2015. Now they are working with U.S. Sen. Joe Donnelly to get similar legislation, which allows families to exhaust all treatment options for a terminally ill family member, passed nationally.

Donnellys Right to Try Act gives families in every state who do not qualify for clinical trial, the ability to try drugs that have not been approved, but have passed the first stage of the Food and Drug Administration testing.

Donnelly was introduced to the family in early 2016 and has since met with them several times to work on the federal legislation.

The bill has already made it through the Senate, and Donnelly is certain it will pass through the House when lawmakers return in September.

We went from less than 50 to, about a week ago, having this pass 100 to nothing in the United States Senate, said Donnelly, All we have to do is have it pass through the House, which will believe it will do.

Jordan travels to Chicago every week to take part in a clinical trial to receive his treatments.

He just finished his 23rd week of his clinical trial. Donnelly said he hopes this act will open up other roads of opportunities for Jordan and others who are terminally ill.

Jordan is our teammate here in Indiana, Donnelly said. I could not live with the thought of not getting this done.

Christian Sullivan is a reporter for TheStatehouseFile.com, a news website powered by Franklin College journalism students.

Continue reading here:
McLinn family champions national ‘Right to Try’ legislation – Greensburg Daily News

Posted in Muscular Dystrophy Treatment | Comments Off on McLinn family champions national ‘Right to Try’ legislation – Greensburg Daily News

First Charcot-Marie-Tooth Patient Dosed in Phase 2 Clinical Trial of Muscle Impairment Therapy ACE-083 – Muscular Dystrophy News

Posted: August 11, 2017 at 7:44 pm

The first patient has been dosed in a Phase 2 clinical trial of ACE-083as a treatment for the muscle impairment inCharcot-Marie-Tooth disease, according to the therapys developer,Acceleron Pharma.

Acceleron is already evaluating ACE-083 in another Phase 2 trial this one as a treatment forfacioscapulohumeral muscular dystrophy.

People diagnosed with CMT currently have no drug therapy options to address the major consequences of their disease, such as impaired walking and falls due to progressive muscle weakness in the lower leg, Dr. Colin Quinn, the new Phase 2 trials principal investigator,said in a press release. He is anassistant professor of clinical neurology at the University of Pennsylvanias Perelman School of Medicine.

ACE-083 has the potential to increase muscle growth and strength in the lower leg muscles we are targeting, and could improve patients ability to walk, Quinn said.

The therapy inhibits agents that impair muscle growth and strength.

Acceleron is developing it for muscular dystrophies with what scientists call focal muscle loss. That kind of loss occurs in a muscle or group of muscles in a specific part of the body.

A Phase 1 clinical trial (NCT02257489) showed that injecting ACE-083 into the legs of healthy volunteers increased their muscle volume. Researchers made the injections inthe rectus femoris a muscle in the upper leg or tibialis anterior a muscle in the lower leg that involves the ankle. The injections led to a 14.5 percent increase in muscle volume in the upper leg and an 8.9 percent increase in the lower leg.

No serious toxicities related to treatment were reported, indicating that ACE-083 was safe.

The positive results prompted Acceleron to move forward with its plans for the two-part Phase 2 clinical trial of ACE-083 in CMT. The study (NCT03124459) will assess ACE-083s ability to reduce weakness in the tibialis anterior, the legs largest muscle.

Acceleron hopes to recruit 42adults with CMT type1 or X-linked CMT for the trial, which will be held at 18 locations in the United States.

In the first part of the trial, 18 patients will receive ascending doses of ACE-083 in their tibialis anterior muscles once every three weeks for up to five doses.

In the second part, 24 patients will randomly receive the optimal dose level identified in Part 1 of the trial, or a placebo. Thesame treatment regimen used in Part 1 will apply to the second stage as well.

Researchers will assess the drugs effectiveness in the Part 2 portion of the trial by looking at changes in muscle volume, strength, and function. They will also evaluate its safety.

We are proud to have advanced ACE-083 into a second Phase 2 clinical trial, said Dr. Matthew Sherman, Accelerons executive vice president and chief medical officer. We designed our clinical development strategy for ACE-083 to explore its activity in diseases with weakness in specific muscles due to an underlying neurological or muscle disorder. With Phase 2 trials now under way in both CMT andfacioscapulohumeral muscular dystrophy,we will be able to evaluate ACE-083s effect on both muscle strength and function across a range of neuromuscular diseases.

More here:
First Charcot-Marie-Tooth Patient Dosed in Phase 2 Clinical Trial of Muscle Impairment Therapy ACE-083 – Muscular Dystrophy News

Posted in Muscular Dystrophy Treatment | Comments Off on First Charcot-Marie-Tooth Patient Dosed in Phase 2 Clinical Trial of Muscle Impairment Therapy ACE-083 – Muscular Dystrophy News

New test for screening of Duchenne muscular dystrophy in newborn babies – Medical Xpress

Posted: at 7:44 pm

Researchers at Cardiff University and Cardiff and Vale University Health Board have developed a more reliable method of screening for Duchenne muscular dystrophy (DMD) in newborn babies.

In collaboration with biotechnology company PerkinElmer, they have developed a diagnostic kit that can accurately screen for the disorder by analysing neonatal dried blood spots.

Professor Ian Weeks, Dean of Clinical Innovation and Head of Cardiff University’s School of Medicine, said: “The successful outcome of this study is an example of the impact that can be achieved through collaboration between academic, clinical and industry colleagues in developing improvements in human healthcare.”

The new method screens for DMD by detecting an enzyme that is released into the blood when muscle fibres are damaged from the condition. Previous tests of this type were less accurate as they also detected the activity of other forms of this enzyme, two of which are also produced in high levels due to muscle trauma-related injuries, which can lead to false results during screening.

Dr Stuart J. Moat, Consultant Clinical Biochemist and Director of the Wales Newborn Screening Laboratory at the University Hospital of Wales, said: “We found that CK-MM can be reliably quantified in blood spots and believe that developing this CK-MM assay on a commercial immunoassay analyser would enable standardized, high-throughput screening for DMD.”

DMD is the most fatal common genetic disorder diagnosed in childhood. The disorder gradually causes muscles to weaken, leading to an increasing level of disability and eventually premature death. DMD almost always affects boys, with around 100 boys born in the UK with the condition each year, and about 2,500 living with the condition in the UK at any one time.

The new screening method originated from research by Professor Ian Weeks from Cardiff University and Dr Stuart Moat of Cardiff and Vale University Health Board. When PerkinElmer joined the collaboration, the research was successfully adapted to an existing PerkinElmer analyser, allowing it to be translated into a routine test that could be used globally.

Linh Hoang, Vice President, Neonatal Screening, PerkinElmer, added: “As the global leader in newborn screening, we are pleased to collaborate on innovative research related to helping advance the processes for screening for rare disorders such as Duchenne.

“This is another step forward in giving children with this condition a better chance at improving their health.”

PerkinElmer also collaborated with local parties to set up a pilot program in China. In Wisconsin a pilot study is being initiated to evaluate the potential applicability for the US.

Pat Furlong, President and CEO, Parent Project Muscular Dystrophy (PPMD), the largest and most comprehensive non-profit organization in the US focused on ending Duchenne, said: “PPMD is committed to paving a path forward for newborn screening for Duchenne in the United States. We are working closely with PerkinElmer to further effective testing methods that we believe will lead to advancements in research for early interventions and eventually treatments.”

Nic Bungay, Director of Campaigns, Care and Information at Muscular Dystrophy UK, added: “This new test moves us closer to a definitive newborn screening test for Duchenne, which will give families more time to plan for the future. We are hopeful that the rapid improvements in testing will allow the rollout of a national newborn screening programme in the coming years, which will allow for treatments to be delivered to the very young at the earliest possible stage.”

Jeanette George, whose son Alex was diagnosed with Duchenne muscular dystrophy through the screening programme in Wales, said: “Having the choice to screen Alex was a positive thing for us. Knowing Alex has Duchenne has allowed us to plan ahead and to manage his symptoms. Alex gets assessed every six months, so any change in his wellbeing will be picked up immediately. I have also been given the opportunity to make the decision to change the direction of my career and to spend more time at home with my son.”

The new research ‘Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy’ is published in the journal Clinical Chemistry.

Explore further: Gene transfer corrects severe muscle defects in mice with Duchenne muscular dystrophy

More information: Stuart J. Moat et al. Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy, Clinical Chemistry (2017). DOI: 10.1373/clinchem.2016.268425

Read this article:
New test for screening of Duchenne muscular dystrophy in newborn babies – Medical Xpress

Posted in Muscular Dystrophy Treatment | Comments Off on New test for screening of Duchenne muscular dystrophy in newborn babies – Medical Xpress

Americans want a say in human genome editing, survey shows – Los Angeles Times

Posted: at 7:44 pm

When it comes to CRISPR, our society has some important decisions to make.

Just last week, scientists reported a new first in the journal Nature: They edited heritable cells in human embryos to treat an inherited form of heart disease. The day after the research was published, a group of genetics experts published a statement calling for further debate before applications of the technology are taken any further in humans.

According to a new survey of 1,600 adults published in the journal Science today, much of the American public shares this desire for engagement in decision-making. Led by Dietram Scheufele, a professor of science communication at the University of Wisconsin – Madison, the study found that while support for gene editing applications varies, a majority of respondents think the public should be consulted before genome editing is used in humans.

Gene editing presents the potential for remarkable benefits.

The potential to cure genetic disease and to ensure the safety of the world’s food supply in the face of climate change are perhaps the most exciting opportunities, said Jennifer Doudna, a chemist at UC Berkeley who was an early pioneer of the powerful gene-editing technique CRISPR-Cas9 and was not involved in the new study.

But it also raises some serious ethical questions, especially when we turn our attention to tweaking the human genome, Scheufele said. Many people find some applications like disease treatment valuable, and others like making your children more intelligent morally shaky.

For example, scientists may eventually develop a cure for what some people dont consider an illness like a disability, Scheufele said. Would those who chose not to undergo genetic therapy or who couldnt afford it then be discriminated against even more as a result?

These and other ethical concerns go beyond the bounds of science, Scheufele says, and his poll results show that the public wants to be involved in the debate.

Oregon Health & Science University

Embryos develop into blastocysts after co-injection, which could someday be used in fertility clinics to help people trying to have children free of genetic disease.

Embryos develop into blastocysts after co-injection, which could someday be used in fertility clinics to help people trying to have children free of genetic disease. (Oregon Health & Science University)

Because of the fast-moving progress of gene editing research and the vast potential for both beneficial applications and negative consequences, many experts have called for public engagement on the issue including in a consensus report released this year by the National Academy of Sciences (NAS) and the National Academy of Medicine (NAM).

The new study strove to answer some questions emerging from the National Academies report. First, how do people feel about different applications of gene editing? And secondly, do Americans agree that the public should be consulted on gene editing applications? Similar questions had been asked in previous polls, but the authors wanted to get some more specific data.

Human genome editing can be used for two broad purposes: therapy or enhancement. Therapeutic applications include the treatment of genetic disorders like muscular dystrophy or sickle cell disease, while enhancement might be used to change your daughters eye color or make her grow taller.

Each of these changes can be heritable or not, depending on which type of cell is tweaked. Somatic cells are nonreproductive, so any changes to these cells will not be passed on to future generations. Germline cells, on the other hand, are heritable therefore, any modifications will be inherited by the treated persons children and grandchildren.

Reprinted with permission from D.A. Scheufele et al., Science 357:6351 2017

A graphic from the paper showing the acceptance of gene editing by application.

A graphic from the paper showing the acceptance of gene editing by application. (Reprinted with permission from D.A. Scheufele et al., Science 357:6351 2017)

The new poll shows that two-thirds of Americans support therapeutic applications, whether to somatic (64% support) or germline (65% support) cells. When it comes to enhancement, however, there is much less approval. Only 39% of respondents find somatic enhancement acceptable, with 35% saying it is unacceptable. Levels of support dropped even lower for heritable germline enhancement, to 26% in acceptance and 51% in opposition.

When these results were broken down by how religious respondents were, some variation emerged. Religious people are less supportive of genome editing overall. Only half of them expressed some support of treatment applications, compared with 75% of nonreligious respondents. When it comes to enhancement, 28% of religious respondents and 45% of nonreligious people reported some level of support.

The authors also ranked respondents in terms of low, medium and high knowledge by their score on a nine-question factual quiz. Those in the high-knowledge category were far more supportive of treatment applications, with 76% in support compared with only 32% of low-knowledge respondents.

When asked about enhancement applications, the high-knowledge group was very polarized, with 41% in support and a nearly equal amount in opposition. In contrast, half of low-knowledge people reported that they neither support nor oppose gene editing.

Robert Blendon, who studies health policy at the Harvard School of Public Health, said that the polarization could be there for a reason. Those who know more about the technology have probably learned about it because they have a vested interest maybe a genetic disease runs in their family or they are concerned with ethical consequences.

Reprinted with permission from D.A. Scheufele et al., Science 357:6351 2017

A graphic from the paper showing the opinions of respondents based on religiosity and knowledge.

A graphic from the paper showing the opinions of respondents based on religiosity and knowledge. (Reprinted with permission from D.A. Scheufele et al., Science 357:6351 2017)

The more religious people were, the less likely they were to trust the scientific community to responsibly develop new technologies. This trend was opposite when it came to knowledge: The more knowledgeable people were about the technology, the more likely they were to trust the scientists.

While the two groups may have very different reasons, both highly religious and highly knowledgeable people agreed that the public should be involved in decision-making before gene editing is used in humans.

Blendon said that while its clear the public wants a say in how gene editing is used, its unclear exactly what public engagement looks like. The first way most people might think of being consulted is through their elected officials, but other surveys suggest that the public actually doesnt think the government should be making decisions about genome technology.

Scheufele said that there is currently no infrastructure in place for crucial two-way communication between scientists and the public on the genome editing issue but its important to develop it.

Diverse groups and perspectives have an important role to play in shaping the early stages of human genome editing research, Scheufele said. Scientists may not think to investigate all the questions that the public may deem vital.

If we ask the wrong questions, he said, then we may have perfect technical answers to all the wrong questions.

[email protected]

@mirakatherine

More here:
Americans want a say in human genome editing, survey shows – Los Angeles Times

Posted in Muscular Dystrophy Treatment | Comments Off on Americans want a say in human genome editing, survey shows – Los Angeles Times

RNA-targeting CRISPR could yield treatments for Huntington’s, ALS – FierceBiotech

Posted: August 10, 2017 at 3:42 pm

Researchers from the University of California, San Diego have used a new version of the gene editing technology CRISPR to fix problems in RNA, rather than to change DNA, a promising step for a group of diseases, including Huntingtons and amyotrophic lateral sclerosis, that have no cure.

CRISPR uses the Cas9 enzyme and a “guide” RNA to snip out mutations in DNA, but until recently, it has not been used to target RNA. After using the method to track RNA in live cells last year, the UC San Diego team is now correcting mistakes in RNA that lead to microsatellite repeat expansion diseases. In these disorders, too many repeats in RNA sequences causes RNA to clump together in cells, preventing them from producing essential proteins.

The team tested their RNA-targeted Cas9 (RCas9) system on laboratory modelsand found that the method cleared 95% or more of the RNA clumpscalled focirelated to myotonic dystrophy, one type of ALS and Huntington’s disease. It also eliminated 95% of errant repeat RNAs in cells taken from patients with myotonic dystrophy. The findings are published in Cell.

“We are really excited about this work because we not only defined a new potential therapeutic mechanism for CRISPR-Cas9, we demonstrated how it could be used to treat an entire class of conditions for which there are no successful treatment options,” said David Nelles,co-first author of the study and a postdoctoral researcherin the laboratory of Gene Yeo, a professor of cellular and molecular medicine at the UC San Diego School of Medicine.

Various companies and institutions are working on CRISPR treatments for a range of diseases, including Duchenne muscular dystrophy and sickle cell disease. A main concern is the chance of off-target mutations, where the system makes unwanted gene edits and causes harmful side effects. Multiple teams are working on adding anti-CRISPR proteins to a CRISPR-Cas9 molecule to act as an off switch for off-target edits.

Yeo and his team at UC San Diegobelieve their work could lead to gene therapies for more than 20 diseases that have no cure, though the technique needs to be refined before it reaches the clinic. Gene therapy is typically delivered via adeno-associated viruses, which are too small to hold Cas9, so Yeos team deleted the parts of the enzyme that arent needed to modify RNA.

RELATED: Three proteins may help control unwanted CRISPR-Cas9 gene edits

“The main thing we don’t know yet is whether or not the viral vectors that deliver RCas9 to cells would [elicit] an immune response,” Yeo said. “Before this could be tested in humans, we would need to test it in animal models, determine potential toxicities and evaluate long-term exposure.”

To that end, Yeo and some of his colleagueshavelaunched a company, Locana, to bring RCas9 from the lab to the clinic.

See the article here:
RNA-targeting CRISPR could yield treatments for Huntington’s, ALS – FierceBiotech

Posted in Muscular Dystrophy Treatment | Comments Off on RNA-targeting CRISPR could yield treatments for Huntington’s, ALS – FierceBiotech

Lives hang in the balance while the FDA bureaucracy churns – Washington Examiner

Posted: at 3:42 pm

The McLinn family of Indianapolis is still fighting for their seven-year-old son, Jordan, who was diagnosed at the age of 3 with Duchenne muscular dystrophy. This is an aggressive disease that results in muscle weakness and loss first attacking the extremities, eventually moving to the heart and other internal organs. There is no known cure, yet, but there are treatments that can help manage symptoms and slow progression of the disease.

For people like Jordan McLinn, failure or needless delay of the Food and Drug Administration to grant a compassionate use request (also known as expanded access) can mean the difference between walking or being wheelchair-bound.

Currently, the FDA has the authority to not approve access to potentially life-saving medicine based on the agency’s criteria meaning, the FDA must determine that “the potential patient benefit justifies the potential risks of the treatment use and those potential risks are not unreasonable in the context of the disease or condition to be treated.”

In a country that prides itself on upholding individual liberties, it’s contradictory that the government reserves the right to grant or deny individuals who are fighting for their lives access to potentially life-saving medicine simply based on the agency’s perspective calculation of what is reasonable or not.

Time for a reality check: There is nothing reasonable about being diagnosed with a terminal illness.

Acknowledging the transformative nature of technology and medicine, there is an immeasurable benefit to removing an inadequately-run government barrier from the equation. Someone who is fighting for their life should not also have to battle the government for access to potentially life-saving medicine. Their lives hang in the balance while the bureaucracy churns. Not to mention, it takes an average of 10 years for a new drug to reach the final approval stage before it is legally sold, prescribed, or marketed.

For Jordan and many others, this is too late.

In cases where no other alternatives exist, it is inhumane to not allow terminally-ill patients to access medical treatment. “Right to try” has passed in 37 states, from liberal states such as California and Illinois to conservative states such as Georgia and Texas.

At the federal level, there is bipartisan support in both chambers. The Trickett Wendler Right to Try Act, S. 204, sponsored by Sen. Ron Johnson R-Wis., accompanied by 46 co-sponsors, passed the Senate last week by unanimous consent. Terminally-ill patients who reside in states that have already passed right to try laws wouldn’t have to worry about federal bureaucrats interfering. The states would have the power to supersede federal restrictions.

For patients who have exhausted all other options, right to try could be a matter of life or death and would put the power of choice in the hands of the patients and their doctors. This legislation would protect patients’ access to potentially life-saving medicine that has cleared phase one of the FDA’s approval process.

This bill does not attempt to strip away the precautions and structure of the FDA to provide safe and effective medications to patients.

Healthcare is extremely personal, and the decision to pursue medical treatment should be at the discretion of the patient and medical professionals, not in the hands of Washington bureaucrats. That said, this legislation does not force the hand of pharmaceutical drug companies either — it merely cuts out an arbitrary barrier for those seeking treatment who have exhausted all other possibilities.

This is a humanitarian issue where people’s lives are currently left in the hands of Washington bureaucrats. From a federalism perspective, the states are the laboratories of democracy. With overwhelming support and passage of right to try in 37 states, this bill would provide alternative pathways for patients to access medicine without dancing around the red tape that is federal bureaucracy.

The Right to Try Act, H.R. 878, the companion legislation to the Trickett Wendler Right to Try Act, has been introduced by Rep. Andy Biggs, R-Ariz., and is languishing in the House Energy and Commerce Committee. Similarly, this legislation would require a medical doctor’s consent that the patient has exhausted all other possibilities and is in accordance with state law where right to try has already been passed. The bill would also require that the medicine in question not be legalized and open to the public until successfully passing all stages of the clinical approval process carried out by the FDA.

The human cost of not passing right to try is innumerable and it would be a travesty for the House not to vote to protect a patient’s freedom of treatment choice. With Republican control of both chambers and the executive branch this would be a win for healthcare freedom. President Trump, along with Vice President Pence, have made it a national priority to pass right to try — while he was governor of Indiana, Pence signed right to try into law.

Advocates like the McLinn family have paved the way for this legislation by staying vocally active on the issue and sharing their story. Thankfully, there is a national movement to free terminally-ill patients of bureaucratic restraints.

Christina Herrin is a contributor to the Washington Examiner’s Beltway Confidential blog. She is the legislative outreach manager for FreedomWorks.

If you would like to write an op-ed for the Washington Examiner, please read our guidelines on submissions here.

Read more from the original source:
Lives hang in the balance while the FDA bureaucracy churns – Washington Examiner

Posted in Muscular Dystrophy Treatment | Comments Off on Lives hang in the balance while the FDA bureaucracy churns – Washington Examiner

Page 11234..1020..»