Five Questions with CMT Researcher Henry Houlden

Henry Houlden, professor of neurology at the MRC Centre for Neuromuscular Diseases, University College London Institute of Neurology in England, was awarded an MDA research grant totaling $288,151 over three years to elucidate the genetic causes of severe forms of Charcot-Marie-Tooth disease (CMT) and other types of early-onset neuropathy. Identification of the causative genes could . . .

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13-Year-Old Author with CMT Made International Headlines with her Petition to American Girl. Now She’s Written a New Book with a Heroine She Can Relate To.

13-year-old Melissa Shang is an activist, an advocate and an author. She’s spoken at the United Nations, given a TedX talk and just published her first book. She is a girl on a mission. And it all started with an American Girl doll named Isabelle. For Melissa, Isabelle was the last straw. Every year, American . . .

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PLEO-CMT Trial Seeking Participants

Researchers are looking for people with type 1A Charcot-Marie-Tooth disease (CMT1A) to participate in a new pivotal phase 3 clinical trial of the investigational drug PXT3003. The trial aims to determine whether PXT3003 is effective and well-tolerated in people with CMT1A. PXT3003 is an oral low-dose combination of three different drugs designed to target the . . .

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CMT – Robert Burgess, Ph.D.

Robert Burgess, a professor at The Jackson Laboratory in Bar Harbor, Maine, has been awarded an MDA research grant totaling $300,000 over three years. Burgess and co-investigator Scott Harper, associate professor at Nationwide Children’s Hospital Center for Gene Therapy in Columbus, Ohio, will test an AAV gene therapy approach to specifically block the altered form . . .

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2022 Clinical & Scientific Conference March 14 Highlights

Today was the first full day of sessions of MDA’s 2022 Clinical & Scientific Conference. For the first time since the start of the COVID-19 pandemic, clinicians, scientists, policymakers, nonprofit, and industry leaders are convening, primarily in-person, for a dynamic and informative five days in Nashville, TN. With more than 975 in-person and 490 virtual . . .

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Self-Care for the New Year

When psychotherapist and disability advocate, Lauren Presutti, needs to recenter with a little self-care, she focuses on taking the time to tune into her feelings.  Lauren, who lives with congenital muscular dystrophy (CMD), is an expert in the mental health field and recognizes the value of self-care.  “Remember to acknowledge and express your feelings, whatever . . .

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Online Therapy and Support Groups Are Good for Your Mental Health

When the COVID-19 pandemic began, much of the healthcare system shifted from primarily face-to-face visits to a wider acceptance of telehealth, or virtual appointments using computers, tablets, or smartphones. Health insurers quickly pivoted to covering virtual visits, as the pandemic required social distancing. And while the pandemic will, eventually, wind down, healthcare experts believe greater . . .

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Muscular Dystrophy Association Awards 18 Grants Totaling Over $1.6 Million for Neuromuscular Disease Research

On Oct. 28, 2021 the Muscular Dystrophy Association (MDA) announced the awarding of 18 new grants totaling over $1.6 million toward neuromuscular disease (NMD) research. These new grants represent a continued commitment by MDA to fund groundbreaking research that will one day lead to treatments and cures for the diseases in its program. The newly . . .

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Early Warning Signs Help Spot Neuromuscular Disease in Children

Every year, Deborah and Jeff Corbett went to their son Josh’s annual checkup with a set of questions. They checked on Josh’s chronic ear troubles and surgeries, inquired about his lagging motor skills, and at his 4-year visit, they asked about his peculiar running gait. When he was 5, they mentioned Josh had difficulty getting . . .

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