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December 6, 2019December 6, 2019

New Mouse Model May Advance Understanding of Mitochondria Protein Production and Dysfunction, Researchers Say

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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 ... Read more

December 5, 2019December 5, 2019

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

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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 ... Read more

November 15, 2019November 16, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

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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. ... Read more

November 15, 2019November 15, 2019

Researchers Discover How Mitochondrial DNA is Transferred From Mother to Child

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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 ... Read more

November 8, 2019November 8, 2019

Elamipretide Improves Cardiac Function in Barth Syndrome Patients, Phase 2/3 Data Show

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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, ... Read more

October 25, 2019October 25, 2019

Phase 2 Retrospective Study of Therapy for TK2 Deficiency Shows Positive Results

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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 ... Read more

October 18, 2019October 18, 2019

Alexion, Stealth BioTherapeutics Agree to Option for Co-development of Elamipretide

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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 ... Read more

October 4, 2019October 4, 2019

Mutation in Nuclear Gene Associated with Symptoms of Mitochondrial Disease, Case Report Shows

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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 ... Read more

September 27, 2019September 27, 2019

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

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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 ... Read more

September 27, 2019September 27, 2019

GS010 Gene Therapy Continues to Improve Visual Acuity in LHON Patients After Two Years, Trial Data Show

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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 ... Read more