Amy D. Harper, MD: One of the exciting things in the future of the treatment of Duchenne is that we’re going to have multiple choices, and this was not an option that we previously had. There may be a medicine that is going to target the specific genetics that that boy has, and then another one that is going to target decreasing the fibrosis or scarring in a muscle, and another one that maybe decreases any kind of inflammation that could then induce scarring. And that there is going to be some sort of cocktail that exists for the ultimate treatment for each child to make it a milder disease.
I think the first step is early identification, for any child neurologist or adult neurologist who is seeing a boy who has had motor delay or speech delay, being aware that checking the CPK [creatine phosphokinase] and getting that early diagnosis so that early treatments can be put in place is very important. If you know there is a family history, and there is a child being born into that family who’s a boy, go ahead and check the CPK right away so that we can have that early diagnosis in place to start that therapy as soon as possible.
The other piece I would say is know your local clinic. If you are a community neurologist, make sure that you are familiar with your local pediatric neuromuscular clinic that has more of a multidisciplinary approach and what components of that multidisciplinary clinic does your local clinic offer. Does it have all the medical specialists and supports that each child is going to need? The last part is be familiar with parent organizations because they provide a lot of information from day to day on how to approach school or how to approach a new diagnosis, and finding other parents who have been through that path with a new diagnosis of Duchenne, and how do they get to the point that they are ready and come to clinic and hear about therapies. I think there is a lot to be said in how one parent can guide another.
Crystal Proud, MD: It’s critical to identify patients who may have a diagnosis of Duchenne muscular dystrophy. We know that with early institution of supportive care and medication management that our patients have an improved prognosis. It’s critical to be aware of some of the signs and symptoms of Duchenne muscular dystrophy that would prompt a referral to a neuromuscular specialist or to a general neurologist who would know how to evaluate that patient accordingly.
Some of those signs would include a motor delay, enlargement of the calf muscles in a young boy, associated also with difficulties rising from a seated position on the floor, inability to keep up with their peers from a motor perspective, and challenges with things that involve hip flexions, like going upstairs, or jumping. That should prompt either a direct referral to a neurologist or a neuromuscular specialist. Although in addition, the primary care person could also pursue an evaluation of CK [creatine kinase]. This is a simple blood test that should be able to be performed by all laboratories, and would traditionally be elevated into the multiple thousands, and that would indicate that that boy is at-risk for Duchenne muscular dystrophy and would ultimately prompt molecular confirmation with DNA testing.
Now is an incredibly exciting time for our patients impacted by dystrophinopathies, and Duchenne muscular dystrophy in particular. There are revolutionary new medications that have been FDA approved and are also in clinical trial.
There are several more medications in the developmental pipeline that are providing incredible hope to our patients impacted by muscular dystrophy. This is the rationale for why it is incredibly important to identify these patients early so that they can pursue treatments in a multidisciplinary clinical setting, but also to permit them the opportunity to participate in either clinical trials or in the potential to receive medications that they might be able to receive based on their DNA testing results. Many of these treatments are DNA specific and mutation specific, and so it’s critical to have care at an institution that is able to navigate some of those complexities to make sure that the child is receiving every opportunity that they can to improve their prognosis long term.
Emma Ciafaloni, MD: I think Duchenne muscular dystrophy is a disease in which there is still very significant delay in the diagnosis. Many families still go for 2 or 3 years not knowing what’s wrong with their child. We frequently, in the community, refer to a diagnostic odyssey, where the patient’s parents know that something is wrong, but the diagnosis is not confirmed quickly. I think that a fast diagnosis is very important. I think that genetic confirmation is very important and then really establishing best standard of care.
We have talked about a lot of the new drugs, and drugs coming down the pike. But we have not touched on that there are established, well published standard of care guidelines that have prolonged the survival and the quality of life of patients with Duchenne, even before all these gene-modifying treatments. We know that, for example, the multidisciplinary approach with a pulmonologist, physical therapist, social worker, cardiologist is extremely important and makes a huge difference.
My recommendation would be to have patients who are identified or suspected to have Duchenne muscular dystrophy to be referred promptly to a center with the specialized expertise able to provide a multidisciplinary approach with all the subspecialty and to implement the standard of care that we know works very well. Especially initiating corticosteroids early, which is considered standard of care and is given to all children. Corticosteroids are really standard of care for all patients with Duchenne, regardless of their type of genetic mutation. On top of that, it will be very important also to provide patients with the opportunity to participate in clinical trials for these novel drugs that we have discussed. There are many trials right now that need patient participation. So a prompt diagnosis, implementing best standard of care, participation in novel clinical trials, in an ideal world that’s what needs to be done for patients with Duchenne muscular dystrophy.
I will say that nowadays there is a phenomenal momentum between pharmaceutical companies, academia, and patient organizations. There is a new, exciting opportunity for this disease to make a dramatic change in the natural history and in the outcome. We did not touch on gene transfer through gene therapy. There are at least 3 programs right now that are advancing in a very promising way with gene therapy. I think that the future for Duchenne muscular dystrophy is looking much better and much more promising than even just 5 years ago. It’s a time of many opportunities for this disease.