03/05/2012
Jane Larkindale

This afternoon at the meeting was really inspiring to me! It focused on all the things that we CAN do for patients with neuromuscular diseases (NMDs). I spend much of my life in a world of drug development, where progress, however exciting, can seem slow. However, there is so much that we already can do for patients.

We spent a lot of the afternoon talking about specific symptoms of NMDs, and what we can do about them. Dr. Beth McNally emphasized that we really need to make sure that a patient has the right diagnosis — for example, some muscular dystrophies are commonly associated with one type of heart issue, while others are associated with a different one entirely (and some have no issues with the heart at all). Once a physician knows the precise disease that the patient has, it is much easier to monitor for the right kind of issue — and perhaps prevent issues from developing by treating early. She discussed all of the different drugs that are available to treat different types of issues with the heart, and when and why they should be used. She discussed the importance of monitoring patients, so that they can get the right care when they need it, and noted that early use of an ACE inhibitor had a positive effect in Duchenne muscular dystrophy.

Breathing is another important issue for NMDs. Dr. Lisa Wolfe talked about what we can do to help our patients keep breathing well — again, early intervention is useful. She presented all the possible ways of treating breathing issues, along with discussing when and why you might do them. Later in the afternoon, Dr. Bob Miller talked about diaphragm pacing in ALS - newly approved for humanitarian use where a surgically inserted device stimulates the diaphragm to help with breathing. Data to date suggest that this helps some patients breathe and may prolong survival in those patients, but more data are needed to see how much of an effect it has. Not all patients are helped by this treatment, but doctors can identify which patients are likely to benefit.

Dishan Singh talked about care of the neuropathic foot. He explained that patients may be seen with either flat feet or with very high arches, but that this is only a problem if pain or contractures occur. These issues occur in many different NMDs, although he talked mainly about Charcot-Marie-Tooth (CMT). Foot pain seems to be common in these diseases and he talked about how to examine patients to identify the precise cause of the pain, and what can be done to relieve it — which may be as simple as shoe orthotics, or may include surgery.

Dr. Anne-Marie Wills talked about how diet affects the progression of ALS, demonstrating that maintaining weight, particularly through a high-fat diet, was associated with longer survival. She also discussed when feeding tubes should be used, and what nutrition should be given this way.

While most of the talks focused on existing treatments for disease symptoms, Dr. Anne Connolly talked about a study that she is working on with MDA’s Clinical Research Network that may help along the development of new drugs. She is working on finding “clinical end points” for clinical trials. As things stand right now, clinical trials are only open to a small subgroup of patients for most NMDs. That’s because they usually measure the changes in how far patients can walk over time — not an appropriate measure for a patient in a wheelchair, and rather hard to measure in a baby. That excludes about 75 percent of the population. Dr. Connolly discussed what they are doing to develop new end points for DMD, which will mean that more patients can take part in trials. That is great for two reasons: 1) no one who wants to be part of a trial will be excluded, and 2) the more patients that can be included in trials, the faster it will be to find out if a treatment works or not, which will get us closer to an effective treatment faster.