The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…
News
A new clinical trial is seeking about 80 people with limb-girdle muscular dystrophy type 2i (LGMD2i) to gather information on this disease’s progression that may help in advancing potential therapies and in establishing a biomarker. The observational study (NCT04202627) is now enrolling patients, ages 10 to 65, at…
PerkinElmer Genomics has launched a new test that is able to accurately detect the shortening of the D4Z4 gene region which causes facioscapulohumeral muscular dystrophy (FSHD) type 1. FSHD affects approximately one in 10,000 to one in…
Supplementing the diet with the amino acid L-arginine may improve gut function in people with Duchene Muscular Dystrophy (DMD), a study in mice suggests. The study, “Spatiotemporal Mapping Reveals Regional Gastrointestinal Dysfunction in Mdx Dystrophic Mice Ameliorated by Oral L-arginine Supplementation,” was published in the …
Addressing changes in cellular metabolism and oxidative damage may lead to muscle regeneration in Duchenne muscular dystrophy and Becker muscular dystrophy, a study has found. The study, “Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle…
In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…
When Shawn Welch was diagnosed in 1979 with facioscapulohumeral muscular dystrophy (FSHD), his doctor at the University of Connecticut John Dempsey Hospital told him he’d probably die before his 30th birthday. “I thought the end was going to come,” Welch…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
A small molecule, trichostatin A (TSA), increased the levels of a dystrophin-related protein known as utrophin, and improved the structure and function of muscles in a mouse model of Duchenne muscular dystrophy (DMD), a study found. The study, “High-throughput identification of post-transcriptional utrophin up-regulators for Duchenne muscle…
Continuing its support, CITGO marketer Graham Enterprise (GEI) raised $123,000 last year for the Muscular Dystrophy Association (MDA). With support from its network of retailers and marketers, including Illinois-based Graham Enterprise, CITGO is the MDA’s largest corporate sponsor. To date, the petroleum company has collected more than $250…
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