You searched for CMT - Muscular Dystrophy Association

Research Study Alert: Observational Study of Clinical and Electrophysiological Outcomes in Adults with CMT

Sujatha Gurunathan 10/11/202111/09/2021

Researchers at Ohio State University are seeking adults living with Charcot-Marie-Tooth disease type 1 (CMT-1) and type 2 (CMT-2) to participate in a one-month observational study (CMT Establish). This study is designed to assess whether individuals with CMT-1 and CMT-2 exhibit altered communication between nerves and muscles, known as neuromuscular junction (NMJ) transmission, compared to healthy . . .

Recognizing and Treating CMT in Kids

Elizabeth Millard 09/10/202109/10/2021

Like many middle-school kids, 11-year-old Callen, of Emmaus, Pennsylvania, has turned his mom, Jamie Moulthrop, into a chauffeur, she jokes. He participates in karate, baseball, hockey, and surfing, and he meets up often with friends at the pool and splashes around for hours. Unlike the other kids around him, though, Callen has Charcot-Marie-Tooth disease (CMT), a . . .

Five Questions With CMT Researcher Stephan Züchner

MDA Staff 06/12/202006/10/2020

Stephan Züchner, MD, PhD, professor for Human Genetics and Neurology, Chair of the Human Genetics Department, and codirector of the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine, recently discovered mutations in the sorbitol dehydrogenase gene (SORD) that cause a recessive, axonal form of Charcot-Marie-Tooth disease (CMT) . . .

Acceleron Pharma Announces Discontinuation of Clinical Trials Program for CMT

Jeanene Swanson 03/18/202003/18/2020

On March 9, Acceleron Pharma, Inc., announced that a phase 2 clinical trial of its therapy under development, ACE-083, for the treatment of Charcot-Marie-Tooth disease (CMT) did not show statistically significant improvements in functional tests compared to placebo. As a result, Acceleron is discontinuing development of ACE-083 and its clinical trials program for CMT. Delivered by . . .

At a Cedars-Sinai Care Center, Dr. Robert Baloh Looks Under — and Ahead of — the Microscope for CMT and ALS

Lindsey Baker 10/01/201910/01/2019

Even though the Martinez family lives in Burbank, Calif., within an hour’s drive to Los Angeles’ Cedars-Sinai Medical Center, their road to the hospital’s specialized clinics — to Dr. Robert Baloh and his work there — was a long one. Daniel and Gladis Martinez have two daughters: Genesis, 15, and Isabella, 14, born just 10 . . .

MDA Awards Clinical Research Network Grant to CMT Researcher Michael Shy for Inherited Neuropathies Consortium

Jeanene Swanson 09/27/201909/26/2019

Michael Shy, PhD, professor of Neurology and Pediatrics at the University of Iowa, was awarded an MDA Clinical Research Network Grant (CRNG) totaling $423,413 over three years to further develop the Inherited Neuropathies Consortium (INC), a network of clinical investigators dedicated to developing the infrastructure necessary to evaluate therapies for patients with inherited peripheral neuropathies, . . .

Researcher with CMT Awarded MDA Funding to Discover Rare Variants for Multiple Neuromuscular Diseases

Jeanene Swanson 09/23/201909/20/2019

Receiving a diagnosis of a neuromuscular disease is often not easy — there can be denial, anger, grief, and a frustrating sense that maybe life is, in a way, over. For Wolfgang Pernice, PhD, however, being diagnosed with Charcot Marie Tooth disease (CMT) in his early teens didn’t bother him that much. He says his . . .

Mouse Study Finds Link Between Key Mitochondrial Protein and CMT2A, Making It a Possible Therapeutic Target

Jeanene Swanson 05/01/201905/01/2019

In a study conducted in mice, scientists led by an MDA-funded researcher found that increasing the amount of a certain mitochondrial membrane protein, mitofusin-1 (MFN1), lessened symptoms of Charcot-Marie-Tooth disease (CMT) type 2A. The findings suggest that it may be possible to treat CMT2A using gene-replacement therapies that deliver functional copies of missing or mutated . . .

Clinical Trial Alert: Researchers at Neurogene Seek Participants for a CMT4J Natural History Study

MDA Staff 03/21/201903/25/2021

Researchers at Neurogene are seeking participants living with Charcot-Marie-Tooth disease (CMT) type 4J to participate in a natural history study. This study aims to better understand disease course so researchers will be able to determine clinically meaningful outcome measures for use in future clinical trials. This five-year study will consist of 10 visits (one visit every six months). . . .

CMTA and MDA Co-Fund Proof-of-Concept Study Using AAV Vector to Deliver Gene Replacement Therapy in X-linked Charcot-Marie-Tooth Disease

Jeanene Swanson 03/01/201903/01/2019

On Mar. 1, the Charcot-Marie-Tooth Association (CMTA) and the Muscular Dystrophy Association (MDA) announced that they have jointly awarded a research grant totaling $276,430 over three years to Kleopas Kleopa, M.D., professor and senior consulting neurologist at the Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, in Nicosia, Cyprus. Dr. Kleopa is . . .

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