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Milestone Moment: A Look Back at the First Gene Therapy Trial for DMD
In 2006, MDA funded the first-ever gene therapy trial for Duchenne muscular dystrophy (DMD). This pioneering trial was a significant step toward addressing the root cause of DMD, and it laid the groundwork for future gene therapies in the neuromuscular field. Jerry Mendell, MD (second from right), led the first clinical trial for a DMD…
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Why You Should Practice Shared Healthcare Decision-Making
Facing a neuromuscular disease diagnosis can be overwhelming, but the more that individuals and their caregivers can be involved in the treatment plan, the more empowered they will feel. Gone are the days when a doctor simply gave instructions and sent the patient on their way. “It used to be that you went to the…
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From the Ski Slopes to the Spirit of Inclusion
When I was learning to ski as a child in Washington state, like anyone new to the sport, I fell a lot and struggled with the equipment. I remember being afraid to point my skis downhill. But my strongest memory is the exhilarating feeling of freedom and independence as I glided down the mountain. That…
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Early preventive heart treatment extends survival in DMD: Study
Preventive treatment with standard heart medications — when given before the onset of cardiac troubles — extends survival among males with Duchenne muscular dystrophy (DMD), according to data from the U.S.-based Muscular Dystrophy Surveillance, Tracking and Research Network, known as MD STARnet. However, despite finding such benefits with prophylactic, or preventive, heart treatments, a team…
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Simply Stated: Updates in Pompe Disease and Other Glycogen Storage Diseases
Glycogen storage diseases (GSDs) are a group of rare inherited conditions that occur when the body is not able to use or store glycogen properly. People with GSDs may experience frequent low blood sugar (hypoglycemia), muscle weakness, and liver damage. Glycogen is processed by many different enzymes in the body, and defects in some of…
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FSHD progression requires me to lighten my music rig
I’ve played music since I was 5 years old. My first professional playing job was as an accordionist in a Polish polka band when I was 13. My accordion at the time was a full-size Excelsior 120 bass model that weighed about 35 pounds. My professional playing career took a lot of turns over the…
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MDA’s Development Grants Support Promising Researchers Entering the Neuromuscular Field
Since its founding 75 years ago, MDA has been the nation’s largest nonprofit supporter of neuromuscular disease research. Every year, MDA awards grants to support promising research in the field. Over the years, MDA has supported more than 9,000 scientific investigators, and about 2,500 have received Development Grants. These grants have a specific purpose: nurturing…
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Kicking off fresh creative ventures through social media
Despite the significant health challenges I face as a person living with Duchenne muscular dystrophy, I’ve come to realize that creativity can thrive in the most unexpected places. One such place is social media. My girlfriend, Amanda Yip, and I recently embarked on a short-term project with Blind Mice Media, a company dedicated to enhancing…
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ENTR-601-44 trial for DMD adults amenable to exon 44 skipping OK’d
The U.S. Food and Drug Administration (FDA) has given Entrada Therapeutics permission to launch a Phase 1b clinical trial to test ENTR-601-44, the company’s experimental exon-skipping therapy, in adults with Duchenne muscular dystrophy (DMD) who carry a mutation that’s amenable to exon 44 skipping. Entrada had sought the FDA’s OK to start the trial in…
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How an emergency medical plan can benefit those of us with MD
“ICE” is a widely used acronym for “in case of emergency.” In today’s fast-paced world, many people have ICE contacts on their phones and folders on their computers that tell others who to call in the event of an emergency. Those of us living with chronic illness can and should have clear and concrete steps…
