By Margaret Wahl — 03/16/2014
Neurologist Charles Thornton, an MDA research grantee at the University of Rochester and a longtime expert in neuromuscular disorders, set the tone for the 2014 MDA Clinical Conference in his keynote address tonight by saying that MDA clinics are in transition. Instead of being places patients are seen every few months or years so that doctors can check their disease progression and make sure their equipment and services are up to date, the clinics are becoming places where increasing numbers of patients can expect to receive disease-altering treatments, such as those already available for Pompe disease (Myozyme and Lumizyme), myasthenia gravis (immunosuppression and pyridostigmine) and myositis (immunosuppression).
New treatments, such as antisense-based drugs for Duchenne muscular dystrophy, myotonic muscular dystrophy, spinal muscular atrophy, and some forms of amyotrophic lateral sclerosis, are coming down the pipeline rapidly and offer new hope — and some new challenges — for health care professionals and patients alike.
Many of these treatments will need to be infused intravenously or intrathecally (into the spinal fluid), requiring that the clinics work closely with infusion centers — a model that has already been implemented for Pompe disease medications. Such treatments may entail complex logistics for families, requiring additional services from social workers and counselors.
Every new drug that gets approved, while cause for rejoicing, also raises new questions, Thornton said, as doctors begin to prescribe them for specific patients for the first time. What, for instance, is the correct dose of a drug that remains in the nervous system for an extended period? What factors shape the response to a drug in a particular patient? (He mentioned tailoring drug dosages to the number of SMN2 gene copies in people with spinal muscular atrophy and to specific mutations in the dystrophin gene in Duchenne dystrophy.)
And now that we can detect many diseases with genetic testing long before symptoms begin, what will we do with that knowledge? Will people who know they have the genetic abnormality that causes myotonic dystrophy or amyotrophic lateral sclerosis but don’t yet have the disease want be treated, or even studied? Research in diseases like Huntington’s suggests that at least some will.
Thornton emphasized that clinicians need to keep an eye on these and other challenges as they develop — watch the “fires closest to our feet” is how he put it — but also watch the horizon, knowing that the models and precedents that are set up now are likely to have implications well into the future.