News

June 26, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials ... Read more

June 21, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, ... Read more

June 21, 2019June 21, 2019

Increasing mtDNA Levels Holds Potential for Tackling Mitochondrial Diseases, Mouse Study Suggests

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Increasing the number of copies of mitochondrial DNA, or mtDNA, may relieve symptoms of mitochondrial diseases and provide a new treatment approach for these disorders, a preclinical study in ... Read more

June 19, 2019June 19, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most ... Read more

June 14, 2019June 14, 2019

Symptoms Vary Greatly in People with MT-ATP6 Mutations and Better Tests Needed, Study Says

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Symptoms vary greatly among people with mitochondrial disease linked to any one of the many mutations evident in the MT-ATP6 gene, a study found, and its researchers call for better tests ... Read more

June 7, 2019June 7, 2019

Kidney Disorder Therapy May Be Effective in Mitochondrial Disease, Study Suggests

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Treatment with cysteamine bitartrate, already used in patients with a rare kidney disorder, could be effective in people with mitochondrial disease, according to preclinical results. The study, “Pre-clinical evaluation ... Read more

May 31, 2019May 31, 2019

Reneo Pharmaceuticals Raises $50M to Support Development of Therapies for Mitochondrial Diseases

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Reneo Pharmaceuticals has raised $50 million to support the development of therapies for mitochondrial diseases associated with defects in cells’ metabolism and energy production. The company’s fundraising includes contributions ... Read more

May 24, 2019May 24, 2019

Top-line Results Expected This Year for Phase 3 Study Testing Elamipretide Injections for Mitochondrial Myopathy

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Stealth BioTherapeutics has completed patient enrollment for its Phase 3 trial ongoing in the United States to evaluate efficacy and safety of daily under-the-skin injections of elamipretide (MT-131), an ... Read more

May 20, 2019May 20, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been ... Read more

April 26, 2019April 26, 2019

GS010 Gene Therapy Continues to Improve Vision Clarity in LHON Patients, New Phase 3 Data Show

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GS010, a gene therapy designed to improve vision clarity in people with Leber hereditary optic neuropathy (LHON), continues to show benefits in the second scheduled readout — at week 72 — ... Read more