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The State of Gene-Targeted Therapies

The first full day of MDA’s Clinical & Scientific Conference included a highly anticipated session that took a deep dive into gene-targeted therapies. Experts discussed how gene-replacement, gene-silencing and gene-editing therapies are being studied and tested for treating patients with a variety of neuromuscular diseases (NMDs).

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Ongoing Clinical Trials

During the second day of the 2019 MDA Clinical & Scientific Conference, 14 scientists and clinicians shared exciting updates from the pipeline of clinical trials. Below are highlights from the session.At the time of the conference, Zolgensma (onasemnogene abeparvovec-xioi, or AVXS-101) was under review by the U.S. Food and Drug Administration (FDA). In May, the FDA approved the drug as a therapy for the treatment of children younger than age 2 with spinal muscular atrophy (SMA).

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The Case for Newborn Screening

Newborn screening allows babies born with life-threatening diseases to be treated before they show any signs of disease, which can lead to improved outcomes and maybe even a life free of symptoms.As therapies for neuromuscular diseases progress through the clinical pipeline and get approved by the U.S. Food and Drug Administration (FDA), the importance of newborn screening is heightened. Currently, it is recommended that states screen for Pompe disease and spinal muscular atrophy (SMA), and a screening for Duchenne muscular dystrophy (DMD) could be on the horizon. But despite these advancements, some states face implementation challenges due to scientific, economic and operational considerations.

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Care Across the Lifespan

The patient journey starts with a diagnosis and often involves pediatric-to-adult transition, clinical follow-ups and multidisciplinary disease management. In recent years, the care model for neuromuscular disease has evolved into a patient-centric treatment approach, in which individuals are driving their own care decisions.

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From Drug Discovery to Delivery

MDA was honored to have Janet Woodcock, M.D., director of the Center for Drug Evaluation and Research (CDER) at the U.S. Food and Drug Administration (FDA), present the keynote address at MDA’s 2019 Clinical & Scientific Conference. Her department, the CDER, oversees most human trials with investigational drugs — those not yet approved or not approved for a particular indication —– and conducts post-market safety surveillance for all drugs on the market to see if new safety findings occur once the drug is being widely used.

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The Ups and Downs of Accessible Air Travel

Cory Lee, who lives with spinal muscular atrophy (SMA), has explored 32 countries in the past five years. While traversing the globe in his 300-pound power wheelchair, Lee writes about accessible travel on his blog curbfreewithcorylee.com, which has garnered thousands of followers. The No. 1 topic people ask him about is air travel.

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Targeting Genes

Until the 1980s, little was known about the cause of any neuromuscular disease. In 1986, MDA-supported researchers identified a single gene on the X chromosome that leads to Duchenne muscular dystrophy (DMD) when it is mutated (flawed). In 1987, the protein associated with that gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.

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Facebook, Friends and Fundraising

When Ethan Och decided to host a Facebook fundraiser for his 21st birthday last year, there was no question of what organization he was going to support.“What came to mind above all other things was MDA because they’ve helped me do cool things over the years,” he says. Diagnosed with spinal muscular atrophy (SMA) when he was 1 year old, Och fondly remembers the time he spent at MDA Summer Camp during his childhood. In addition, MDA assisted his family in getting vital pieces of medical equipment, as well as offering priceless support and education over the years.

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What Happened to You?

“What happened to you?” The question became familiar to me as a child while the young, curious faces stared at my power wheelchair.I wanted so badly for my peers to see me as a “normal” kid, yet there was nothing I could do to mask my differences.I have spinal muscular atrophy (SMA), a genetic condition caused by a mutation that affects muscle use. Only 1 in 11,000 people are born with this condition.

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Making the Workplace Accessible

When Josh Moser transitioned from college to a career 10 years ago, having Duchenne muscular dystrophy (DMD) was a concern he wasn’t quite sure how to handle. He felt nervous talking about his needs, he recalls, worried that it might sabotage his job prospects. Fortunately, the financial services firm where he was temping appreciated his work and asked him to apply for a full-time position as a processing associate. After he accepted the offer, the company worked with him to make sure he could perform his job duties effectively.

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