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Niacin, vitamin B3, can help to normalize muscle metabolism in people with mitochondrial myopathy, a study based on a small pilot trial in patients suggests. Titled, “Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy,” the study was published in the…
An independent Data Safety Monitoring Board (DSMB) has found GS030, GenSight Biologics’ candidate gene therapy for retinitis pigmentosa, safe and recommended the company’s PIONEER trial continue as planned. PIONEER (NCT03326336) is a Phase 1/2 trial currently investigating the safety and tolerability of increasing doses of GS030…
While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…
The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…
A cholesterol-lowering medication, bezafibrate, taken daily for 12 weeks did not induce the formation of new mitochondria in people with mitochondrial myopathy carrying a mutation in the MTTL1 gene, a small observational study reports. Its use also altered certain metabolic pathways, changes that could raise safety concerns with longer-term use,…
GenSight Biologics announced it has finished a pre-submission meeting with the European Medicines Agency (EMA), a key step in filing a request for the approval of Lumevoq, its gene therapy for Leber hereditary optic neuropathy (LHON). The company expects to file the request, called a marketing authorization…
Transplanting mitochondria — the cell compartments responsible for the production of energy in our body — from healthy skeletal muscle cells provides a short-term energy boost in heart cells, a study has found. These findings suggest that mitochondria transplants could one day be used therapeutically to treat mitochondrial…
First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…
First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…
The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD), said it will still take place at the…
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