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March 14, 2018

‘A Disease May Be Rare, Hope Should Never Be,’ Says Boy with SMARD at Connecticut Rare Disease Day Event

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When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from ... Read more

March 14, 2018March 14, 2018

Scientists May Have Found New Mechanism Behind Mitochondrial Disease Development

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Errors in the chemical processing that takes place in the production of mitochondrial proteins may play a role in the development of certain mitochondrial diseases, scientists from Japan have ... Read more

March 12, 2018

Rare Disease Groups Welcome FDA’s Embrace of ‘Real World’ Data in Clinical Trials

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In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new ... Read more

March 12, 2018March 12, 2018

New Mutations Found in Mitochondrial DNA That Cause LHON, Study Finds

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Researchers have found that certain mutations in the mitochondrial genes, which alone don’t seem to cause disease, are sufficient to trigger Leber’s hereditary optic neuropathy (LHON) when combined. Based ... Read more

March 9, 2018

US Lawmakers Urge Bipartisan Support for Rare Disease Research, Patients’ Needs

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At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated ... Read more

March 9, 2018

Enrollment Completed for Phase 2/3 Trial of Elamipretide for Treatment of Barth Syndrome

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Enrollment has been completed for a Phase 2/3 trial to evaluate the safety, effectiveness, and tolerability of investigational therapy elamipretide in patients with Barth Syndrome, a rare mitochondrial disorder, Stealth BioTherapeutics announced. In ... Read more

March 7, 2018

Phase 2 Trial Finds Possible Benefits of Omaveloxolone to Mitochondrial Function at Set Dose

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A potential oral treatment of mitochondrial myopathies called omaveloxolone (RTA 408) appears to improve the mitochondrial function of patients at an optimal dose of 160 mg, top-line data from a ... Read more

March 5, 2018

Potential Gene Therapy May Improve Survival in MNGIE Patients, Mouse Study Suggests

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A gene therapy designed to correct the underlying defect that causes mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) could potentially improve survival in patients with the disease, a mouse study suggests. The ... Read more

March 2, 2018March 5, 2018

New Method Improves Delivery of Healthy Mitochondria To Cells Where It Is Dysfunctional, Study Shows

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South Korean researchers have developed a simple way to deliver healthy mitochondria to cells where it is dysfunctional, rescuing the cells’ energy levels and metabolic function. The study, “Delivery ... Read more

March 2, 2018

Retrophin, Horizon Donate $3M Each to Rare Disease Institute at Children’s National

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Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in ... Read more

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