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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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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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Be Prepared

When a medical emergency occurs — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency department (ED) quickly that’s critical. It’s also critical to ensure the ED staff understands the patient’s particular needs.“Many emergency department physicians have a limited background in neuromuscular disease,” states Lisa Wolfe, M.D., associate professor of medicine in the Division of Pulmonary Critical Care and Sleep Medicine at the MDA Care Center at Northwestern University in Chicago. Unfortunately, many people don’t discover this potential problem until they’ve arrived for emergency care.

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News on LEMS Treatment and Research

In Lambert-Eaton myasthenic syndrome (LEMS), the immune system attacks the connection between nerve and muscle — the neuromuscular junction — and interferes with the ability of nerve cells to send signals to muscle cells.Specifically, the attack targets the calcium channels on nerve endings that are required to trigger the release of acetylcholine, a chemical messenger that triggers muscle contraction. With fewer calcium channels, the nerve endings release less acetylcholine. With low levels of acetylcholine, muscles do not contract normally, resulting in muscle weakness.

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