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A new mouse model may help scientists deepen their knowledge about mitochondria, the cell compartments responsible for the production of energy in the body, as well as their understanding about certain diseases, including mitochondrial disorders and diabetes. The disease model, called MitoRibo-Tag mice, allowed researchers to study,…
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…
Researchers in Spain have made a discovery that has important implications for treatment strategies to prevent mitochondrial diseases from being passed from mother to child. Specifically, they found that the mechanisms involved in the transfer of mitochondrial genetic material from a mother to her offspring is controlled at two distinct…
Elamipretide (MT-131), developed by Stealth BioTherapeutics, is able to improve cardiac function in Barth syndrome patients, new data from a Phase 2/3 clinical trial show. Hilary Vernon, MD, PhD, a professor of pediatrics at Johns Hopkins Hospital, presented the findings in a presentation, titled “An interventional…
A retrospective study of nucleoside therapy for treating the very rare mitochondrial disorder thymidine kinase 2 deficiency (TK2d) has shown positive results, including improved survival rates among children and adults with this genetic disorder, for which there are no approved therapies. Those findings were presented in a poster titled “…
Alexion has entered into an agreement with Stealth BioTherapeutics to help — depending on the results of a Phase 3 clinical trial — co-develop elamipretide, an investigational therapeutic for several mitochondrial diseases. Elamipretide (MT-131) is a potential mitochondrial therapy that binds to parts of the inner membrane of mitochondria,…
A recent report that describes the case of a teenager with severe symptoms of multiple mitochondrial diseases, contends it may have been caused by a mutation in a gene found in the nuclei, which is the compartment that stores cells’ genetic information. The case report study, “Mitochondrial single-stranded…
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told BioNews Services, publisher…
GS010, a gene therapy developed by GenSight Biologics, continues to lead to sustained improvements in visual acuity in patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes vision loss, data from a Phase 3 trial show. The findings are based on…
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