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Muscular Dystrophy

Has the Next Generation of Gene Therapy Arrived?
 Has the Next Generation of Gene Therapy Arrived? 1024 683 Wendy Margolin
By: Wendy Margolin

Researchers crack the code to deliver dual gene therapy in preclinical studies – with promises of wider applications. In a gene therapy breakthrough, a Nationwide Children’s Hospital researcher has successfully used an adeno-associated virus (AAV) to introduce two genes into cells with a single vector. Paul Martin, PhD, created a new dual gene vector approach…

Clinical Trial Shows Promising Results for AAV Gene Therapy for LGMD 2E/R4
 Clinical Trial Shows Promising Results for AAV Gene Therapy for LGMD 2E/R4 1024 783 Abbie Miller
By: Abbie Miller

Recently published in Nature Medicine, interim results from a Phase 1/2 trial offer promising results.   Limb-girdle muscular dystrophy (LGMD) 2E/R4 is a rare, progressive neuromuscular disorder caused by mutations in the β-sarcoglycan (SGCB) gene. These mutations lead to SGCB protein deficiency, ultimately resulting in muscle loss. Progressive, debilitating weakness and wasting begin in the…

Micro-dystrophin: A Small Gene With Big Promise
 Micro-dystrophin: A Small Gene With Big Promise 1024 632 Abbie Miller
By: Abbie Miller

SRP-9001 for Duchenne muscular dystrophy supplies a functional dystrophin gene via AAVrh74 gene therapy. In 1969, Jerry Mendell, MD, was working at the National Institute of Neurological Disorders and Stroke (NINDS) when he saw his first patient with Duchenne muscular dystrophy (DMD). DMD, a severe form of muscular dystrophy caused by a mutation in the…

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
By: 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…

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 Miller
By: Abbie Miller

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…

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
By: 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…

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
By: 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…

Endocrinology Considerations in Duchenne Muscular Dystrophy
 Endocrinology Considerations in Duchenne Muscular Dystrophy 150 150 Jeb Phillips
By: Jeb Phillips

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 Miller
By: Abbie Miller

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…