Muscular Dystrophy

Novel Approaches to Gene Therapies for Patients With Rare Genetic Diseases
Novel Approaches to Gene Therapies for Patients With Rare Genetic Diseases 150 150 Jessica Nye, PhD

According to the National Institutes of Health (NIH), nearly 7,400 diseases have been identified and classified as “rare” or “orphan” — “rare” because each afflicts fewer than 200,000 people in the United States and “orphan” because drug companies, unlikely to recoup research and development costs from such small patient populations, have historically found them too…

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Gene Therapy Rescues Phenotype in Preclinical Model for Limb Girdle Muscular Dystrophy 2A/R1
Gene Therapy Rescues Phenotype in Preclinical Model for Limb Girdle Muscular Dystrophy 2A/R1 1024 575 Abbie Roth

Replacement of CAPN3 gene via AAV-mediated gene therapy resulted in significant, robust improvements in functional outcomes and muscle physiology in the preclinical model. LGMDs are a rare form of muscular dystrophy for which there is no treatment. As a heterogenous group caused by a number of mutations, the complexity of classification makes the disease challenging…

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Natural Progression of Duchenne Muscular Dystrophy for Boys Taking Long-Term Steroid Therapy
Natural Progression of Duchenne Muscular Dystrophy for Boys Taking Long-Term Steroid Therapy 1024 575 Mary Bates, PhD
boy with muscular dystrophy completing walk test

New data define expected motor performance at different ages and will help in clinical trial design and interpretation. Duchenne muscular dystrophy (DMD) is a devastating diagnosis, but there are many potential treatments in various stages of development. Clinical trials now target boys with DMD who are 4-8 years old, as it appears that early intervention…

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Krabbe Disease Successfully Treated With Gene Therapy in Preclinical Animal Model
Krabbe Disease Successfully Treated With Gene Therapy in Preclinical Animal Model 1024 575 Lauren Dembeck

Gene therapy shows promise for clinical benefit in demyelinating, neurodegenerative disease. Krabbe disease is an aggressive, incurable pediatric neurodegenerative disease caused by mutations in the galactosylceramidase (GALC) gene. Deficiency of the GALC protein activity leads to cytotoxic accumulation of a cellular metabolite called psychosine, which compromises normal turnover of myelin in the central and peripheral…

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Big Gains in FSHD Research: A Newly Published Model of FSHD and a Potential Gene Therapy to Improve Functional Outcomes
Big Gains in FSHD Research: A Newly Published Model of FSHD and a Potential Gene Therapy to Improve Functional Outcomes 150 150 Abbie Roth

The model aims to provide the basis for many future studies to bring therapeutic options to patients with FSHD. Facioscapulohumeral muscular dystrophy (FSHD) is the most prevalent dominantly inherited muscular dystrophy in the world. To date, there are no pharmacologic treatments available for the more than 850,000 people affected worldwide. Developing models to use for…

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