The conference provided opportunities for information-sharing and collaboration among scientific professionals from many disciplines
Turning neuromuscular disease research into treatments as quickly as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters and countless informal conversations at the MDA Scientific Conference, April 21-24, 2013.
A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.
Ken Hensley, a researcher from the University of Toledo Medical Center in Ohio who studies amyotrophic lateral sclerosis (ALS), called it “a very focused, intense meeting where we can share the latest in applied and basic biology.”
The biennial conference, held for the first time in Washington, D.C., drew more than 500 participants from the academic, corporate drug development and clinical arenas. (The conference was not open to the general public.) A larger-than-ever number of young researchers were among the attendees this year — a statistic cited by more than one participant as a positive sign for the future of neuromuscular disease research.
Co-chairing the meeting were C. Frank Bennett, CEO of the biotech company Isis Pharmaceuticals, and Eric Hoffman, director of the Center for Genetic Medicine Research at Children’s National Medical Center in Washington, D.C.
For more about the 2013 MDA Scientific Conference, visit the 2013 Scientific Conference overview. And, be sure to view a new MDA video called 2013 MDA State of Research and Therapies to learn more about MDA's groundbreaking work in neuromuscular diseases as well as recent advances in research and therapies.
Sessions were built around such themes as targets for drugs, genetic modifiers, therapeutic modalities, biomarkers, animal models, preclinical work and clinical trials.
Each session featured presentations from researchers working in different neuromuscular diseases, enabling the widest possible sharing of knowledge and ideas.
Many participants made reference to the rapidly changing landscape of research, which has been altered by such factors as technological advances, improvements in clinical trial design, interest by the drug development industry and the increasing power of the patient’s voice. A commonly heard refrain: “We couldn’t have held this conference five years ago.”
In Their Own Words: Conference Participants Express Optimism About the Current State of Neuromuscular Disease Research
“We’re really seeing now the transition from basic science toward translational science and the first clinical applications.
"I think what we’re seeing now with the recent developments in the antisense oligonucleotide therapy in Duchenne is really hopeful and you also see examples in other muscle diseases.
"The last two or three years have been an incredible time for FHSD [facioscapulohumeral muscular dystrophy]. We have basically gone from a situation that we knew very little about the mechanism [to where] we are now convinced that we have uncovered the mechanism that is underlying this disease. Until now we have only been able to give [people with FSHD] a reliable diagnosis of the disease, but it’s time that we also can start offering them treatment.
"Because of MDA, there is hope for patients with FSHD. We are always short of funding, and MDA has always provided a very steady source of funding, and they always fund the best research.”
Silvère van der Maarel, a professor of medical epigenetics at Leiden University Medical Center in the Netherlands, has MDA support to study the genetic defect that underlies type 2 facioscapulohumeral muscular dystrophy (FSHD2), design a reliable diagnostic technique for FSHD2, and determine some of the commonalities and differences between FSHD1 and FSHD2.
“This is a very hopeful time. Not only is there incredible scientific knowledge that’s blooming forth about the basic origins of these diseases and how they occur — what the triggers are, what’s driving the progression — but there really is a change in the landscape in the way clinical trials are designed; the way that regulatory committees and regulatory agencies look at orphan disease therapy development; and a whole ‘sea change’ in the way pharmaceutical companies are viewing orphan diseases as an attractive target for new therapeutic technologies.
“Research is advancing exponentially. We have really amazing challenges right now. The cost of doing research is increasing [while] the funds are diminishing in public-funded research. But we have really increased our knowledge — mostly through developments in genetics and molecular biology that have given us new tools.
"Now the challenge is: How do we sift through all that knowledge and transform it into some kind of drug or technology that we can then take to the human clinic? That is the biggest challenge right now, and that is an area that MDA is really supporting in a way that very few other organizations in the world are able to do.”
Kenneth Hensley, an associate professor in the Departments of Pathology and Neuroscience at the University of Toledo Medical Center in Ohio, has current MDA funding to investigate the possible role of the CRMP2 protein in the degeneration of nerve fibers in amyotrophic lateral sclerosis (ALS). Two weeks before the conference, a French research group found that a mutation in a CRMP gene is a genetic risk factor in human ALS, supporting Hensley’s hypothesis.
“These compounds and therapeutics that people are devising in order to treat muscular dystrophies are probably going to be used in combination. It’s not just going to be one single drug that gets used. It’s probably going to be our drug, and your drug and a bunch of different drugs … and the end result is an effect that leads to normal life spans and increased quality of life.
"[The MDA Scientific Conference] provides us a way to get together to see what other scientists are doing and form collaborations. One of the things that has really been driving a lot of the recent scientific advances is all these collaborations — you may not have the expertise in a certain field, but you can find someone here that does have that expertise, and now you have better avenues for taking your drugs to the next level.
"Obviously it’s never a good time to have muscular dystrophy, but today’s a good time in terms of our knowledge and where we’re headed, because I think therapeutics are going to start appearing fairly soon.”
Ryan Wuebbles, a postdoctoral fellow in pharmacology at the University of Nevada School of Medicine in Reno, has MDA funding to screen for small molecules that increase levels of a protein called alpha 7 integrin, a strategy that may be useful in treating limb-girdle muscular dystrophy (LGMD), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), congenital muscular dystrophy (CMD), and potentially even normal aging. Wuebbles has facioscapulohumeral muscular dystrophy (FSHD).