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January 17, 2020January 17, 2020

NeuroVive Soon to Recruit Patients With Primary Mitochondrial Disease to Test its Oral Treatment Candidate

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NeuroVive Pharmaceutical AB has completed recruitment of healthy subjects for the second part of an ongoing Phase 1a/b study testing its oral treatment candidate KL1333 for primary mitochondrial disease. ... Read more

January 10, 2020January 10, 2020

Elamipretide Failed to Meet Promise of Earlier Trial Results for Primary Mitochondrial Myopathy, Data Show

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Treatment candidate elamipretide did not meet expectations stemming from promising early trial results in patients with primary mitochondrial myopathy (PMM), data from a Phase 3 trial show. Elamipretide is ... Read more

January 3, 2020January 3, 2020

New Fluorescent Marker Allows Detailed Study of Mitochondria in Live Cells, Study Reports

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MitoPB Yellow, a new fluorescent specific marker, allows scientists to study live mitochondria, possibly leading to a better understanding of mitochondrial diseases and to new treatments, researchers in Japan ... Read more

December 20, 2019December 20, 2019

LHON Natural History Study Highlights Improvements in Visual Acuity From Lumevoq Treatment

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Patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes vision loss, experienced a dramatic and mostly irreversible loss of visual acuity, according to an ... Read more

December 10, 2019December 10, 2019

Gene Therapy Takes Center Stage at 2019 NORD Summit

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With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough ... Read more

December 6, 2019December 17, 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