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February 15, 2019February 15, 2019

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

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Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run ... Read more

February 8, 2019February 8, 2019

Topline Results Announced for Phase 3 Trial Testing GS010 in LHON Patients

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GenSight Biologics annnounced the topline results of a Phase 3 clinical trial for GS010, a gene therapy designed to improve vision acuity in patients with Leber hereditary optic neuropathy (LHON), ... Read more

February 1, 2019

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

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The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal ... Read more

February 1, 2019February 1, 2019

Certain MELAS Patients Have Higher Fear of Disease Progression, Study Shows

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More than one-fifth of patients who are carriers of the m.3243A>G mutation, one of the most common genetic variants linked to MELAS spectrum disorder, have a significantly higher fear ... Read more

January 25, 2019January 25, 2019

Healthcare Utilization of Mitochondrial Disease Patients Much More Costly Than General Population

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How — and how often — patients with mitochondrial diseases make use of healthcare services represents a greater burden than that of the general population, a retrospective study shows. Moreover, ... Read more

January 18, 2019January 18, 2019

Genetic Mutations Affecting Protein Production Identified in Mitochondrial Disease

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Mutations in an enzyme complex essential for mitochondrial protein production are a newly found cause of mitochondrial disease, researchers found. The study, “Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause ... Read more

January 11, 2019January 11, 2019

Mitochondrial Surveillance Mechanism Is Critical for Genomic Stability, Study Shows

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A natural RNA surveillance mechanism is crucial to maintain the integrity of mitochondria’s encoded information for protein production and prevent the accumulation of potential disease-causing molecules. The study, “Human ... Read more

January 4, 2019January 4, 2019

AOX Enzyme May Alleviate Symptoms of Mitochondrial Disease, Mouse Study Shows

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Researchers found an enzyme called alternative oxidase (AOX) that is able to bypass part of the mitochondrial respiratory chain (MRC) and alleviate symptoms of mitochondrial cardiomyopathy in a mouse ... Read more

December 21, 2018December 21, 2018

Entrada Raises $59M to Advance Program to Treat Rare, Deadly Mitochondrial Disease

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Entrada Therapeutics has raised $59 million in Series A financing to advance its intracellular enzyme replacement therapy program for treatment of a rare and deadly mitochondrial disease. Series A financing ... Read more

December 21, 2018December 21, 2018

Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish

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Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to ... Read more

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