- Research on gene therapy and gene replacement is being done in studies on muscular dystrophy.
- The Muscular Dystrophy Association (MDA) is focused on finding a cure for the disease.
- If you are a muscular dystrophy patient, you can use clinical tool finders to get involved in a trial near you for new treatments and neuromuscular diseases.
There is vast research going into the effort to find new ways to combat Muscular Dystrophy. Before any new treatment can see the light of the day, it undergoes a series of testing called clinical trials.
When a patient is part of a clinical trial, they benefit from cutting-edge treatment that contributes immensely to their research. Basic information collected on patients for the study is done to identify and verify potential beneficiaries of the trial who are compatible with research goals.
The following topics are being researched for muscular dystrophy.
- Gene therapy – Gene replacement can be applied to mitigate on the progression of the disease.
- Exon skipping – A treatment approach for correcting genetic mutations so as to restore production of dystrophin protein.
- Cell-based therapy – People with muscular dystrophy are believed to be missing a certain protein which is critical so it can be replaced with muscle stems capable of replacing the missing protein. Muscle stems are cells in their initial developmental stages.
- Drug based therapy – Drugs are used that mitigate to muscles due to inflammation. The drug slows muscle degeneration.
- Genetic modification therapy to bypass inherited mutations – NINDS in collaboration with biotechnologists, pharmaceutical companies as well as an academic investigator are to perform clinical trials in the next few years.
- Formulation of utrophin up-regulator – In March 2016, tests were conducted on new formation of SMT C1100. According to the current data, it absorbed better in the blood than the old formula.
- Stem cell transplantation – In April 2016, Professor Jennifer Morgan from the University College of London funded by Duchenne Forum investigated ways of improving stem cell transplantation in degenerating muscles.
- AveXis, an American gene therapy firm, plans a trial testing of AVXS-101 in people having SMA type 2 in the second quarter of 2017.
Muscular dystrophy disease research programs and centers include:
National Institute of Neurological Disorders and Stroke (NINDS):The NINDS focuses on varied research on stem cells.
Muscular Dystrophy Association (MDA): Finding a cure is one of the main targets of the association so that they can free people suffering from the harmful effects of the muscular disease. In addition to that, they fund the most promising and innovative researchers. MDA has committed more than $17 million this year, moreover, they support 150 research projects worldwide.
MDA's Scientific Program: They encourage companies to get involved in drug development, and they work with communities in overcoming hurdles in therapy development.
Research Center's Program: The center's program helps people access clinical trials at the center. Also, with healthcare professionals located in one place the same day, patients can get an early diagnosis.
International research grants program
Muscle Dystrophy Association (MDA) grants:
Discovery Grant – This awards for testing new drugs, new strategies to treat diseases and causes of the disease.
Research Grant –This isawarded to independent investigators to fast track understanding and treatment of the disease.
Development Grants – Senior postdoctoral researchers are awarded seed money to start scientific programs that can make a milestone discovery of treatment of Muscle Dystrophy.
Clinical Research Network Grants – This is where selected care centers work together through the network. The researchers involved network through phone conversations or in person to discuss ongoing activities of the network's programs.
Clinical Trial Travel Grants – These support the cost of traveling from the hospital to the patient enrolled in clinical trials.
Clinical Research Training Scholarships – This is a catapult new medical career for entrants in the field on clinical neuromuscular research to support education and research.
Infrastructural Grant –This makes people eligible to conduct research with your laboratory besides other qualifications.
Conference grant – This is to facilitate the exchange of ideas about crucial information regarding muscular dystrophy through meetings, workshops and conferences.
Muscular dystrophy - fellowship and career development programs
FSH Society: This society offers grants to research fellows and postdoctoral fellowships in order to support Facioscapulohumeral Muscular Dystrophy (FSHD). Apart from the grant, the society offers tools and resources such as books and online resources, biospecimens and patient registries.
MD STARnet: This research program is funded by CDC (Center for Disease Control) and mandated to collect information about Muscle Dystrophy from specific clinics, hospitals or sources such as birth and death certificates in the US. CDC awarded funds to states or regions such as University of Iowa (Iowa), University of Utah(Utah), and Colorado Department of Health and Environment (Colorado) since 2014 for the next five years of research.
Parent Project Muscular Dystrophy: The goal of PPMD is research and help in accelerating clinical trials and finding a cure for Muscle Dystrophy. Some of their initiatives include:
- To finance a far-reaching research portfolio
- To explore in both short and long-term treatments and remedies
- To oversee $200 million into research centers and $22 million into Duchenne-specific programs at the Centers for Disease Control
- To put $15.4 million from the National Institute of Health (NIH) into PPMD’s drug discovery program
Pharmaceutical company Santhera: The Swiss firm dealing with mitochondrial diseases has released an updated regulatory timeline for Raxone, with the aim of slowing down respiratory weakening in Duchenne muscular dystrophy.
Bionest Consulting Company: The consulting firm using a collaborative approach wants to interview people and caregivers who live with spinal muscular atrophy (SMA).
The European Commission: On March 15th, 2016 they awarded £4.6 million to The John Walton Muscular Dystrophy Research Centre at Newcastle University.
Collaborative endeavors for treatments of muscular dystrophy
Muscular Dystrophy Canada partners with the Canadian Institutes of Health Research for a joint push for funding multilateral research tasks on rare diseases (JTC2017). The objective of this call is to allow researchers the collaborative sharing of ideas to support research on rare diseases. It mainly focuses on therapeutic approaches, interventional clinical trials, plus surgery and radiation therapies.
The Centre for Community-Driven Research (CCDR*) partners with SMA and MD organizations in Australia to conduct a study to help understand the experience of individuals affected by SMA and their necessities in terms of future treatment, information care, and support. The community of SMA needs a voice and therefore the report of the study will be used for future advocacy in accessing treatments.
Funding patients living with muscular dystrophy
Assistance Fund - Duchene muscular dystrophy (US): This is a charitable organization that helps patients and families with travel related costs, insurance premiums, co-payments and deductibles. However, patients must show proof of their medical conditions.
If you are a muscular dystrophy patient, you can use clinical tool finders to get involved in a trial near you for new treatments and neuromuscular diseases.
Benefits of clinical Muscular Dystrophy disease trials
- Examine safety of drugs
- Examine devices
- Examine treatments
- People involved in trials get stringent measures than usual
- People benefit from close attention, therefore, better management
Challenges in trials
- The procedure of trials can be painful especially biopsies, injectable and any adverse reaction to drugs
- You might not benefit from the trial because of low dosages or placebo
Obstacles to research and funding: Complex changes often occur in muscles therefore hampering research.
Currently, there are no new therapies to improve muscle strength with the exception of corticosteroids. Medication only slows the course of the disease.