Aldevron has signed a long-term agreement with Sarepta Therapeutics to provide the gene-transfer vehicles used in Sarepta’s gene therapies that are being tested in ongoing and future clinical trials, as well as for future commercialization. Sarepta Therapeutics is a leading pharmaceutical developing precision genetic therapies for rare diseases, and has begun…
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Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…
French researchers described a combination of surgical techniques that allows the correction of foot deformities associated with Charcot-Marie-Tooth disease (CMT). The study, “Long term results of the revisited Meary closing wedge tarsectomy for the treatment of the fixed cavo-varus foot in adolescent with Charcot-Marie-Tooth disease,” was published in…
Researchers have developed a new scale to assess disease severity in infants with Charcot-Marie-Tooth disease (CMT). The final version of the Charcot-Marie-Tooth disease Infant Scale (CMTInfS) is easy to use and very reliable to evaluate disease outcomes for early-onset CMT and other types of nerve disorders. The study supporting that assessment, “…
Investigational therapy ACE-083 was granted fast track designation for Charcot-Marie-Tooth disease (CMT) by the United States Food and Drug Administration, Acceleron Pharma recently announced. ACE-083 can prevent muscle shrinkage or atrophy that cause the debilitating symptoms of CMT disease by blocking the transforming growth…
Molecular simulations of the effects of specific mutations in the structure of mitofusin 2 (MFN2) — the key protein altered in Charcot-Marie-Tooth disease type 2A (CMT2A) — may predict the disease’s severity, a recent study shows. The study, “Molecular modelling of mitofusin 2 for a prediction for…
Patients with Charcot-Marie-Tooth disease (CMT) who undergo Fontan surgery to correct a heart defect in childhood may later develop difficulties with the diaphragm — the muscle that allows us to breath — that can cause the earlier heart surgery to fail while leaving…
Two scores that evaluate gait characteristics may help differentiate between those who have Charcot-Marie-Tooth (CMT) disease and those who are not affected, according to a study. The scores could also help evaluate the severity of the disease, the joints most affected, and the benefits provided by physiotherapy and…
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#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit and affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate,…
 To help it reach its fundraising goal by year’s end, the Charcot-Marie-Tooth Association (CMTA) has issued its 35th Anniversary $150,000 Research Challenge. Donations will be matched dollar for dollar through Dec. 31, 2018. Fundraising totals are continually updated on the CMTA website.  Funds will go toward investigations…
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