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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

September 20, 2019September 20, 2019

Novel BCS1L Gene Variants Linked to Mitochondrial Disorders, Including GRACILE Syndrome

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Researchers have identified two novel variants of the BCS1L gene, linking one to a mitochondrial disease with progressive kidney failure in an adult, and the other to an infant with ... Read more

September 13, 2019September 13, 2019

Zogenix Acquires Modis and MT1621, Potential Oral Treatment for TK2 Deficiency

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Zogenix has acquired Modis Therapeutics and, in doing so, added to its portfolio MT1621, a potential treatment for a mitochondrial disease called TK2 deficiency. TK2 (thymidine kinase 2) is ... Read more

September 5, 2019September 5, 2019

Activities Abound for Global Mitochondrial Disease Awareness Week, Sept. 15-21

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From walks and runs, to discussions and illuminated landmarks, a myriad of activities are on tap around the world for Global Mitochondrial Disease Awareness Week, slated for Sept. 15 ... Read more

August 30, 2019

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

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Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: ... Read more

August 23, 2019August 23, 2019

mTOR Inhibitors May Benefit Some Children With Mitochondrial Diseases, Case Series Suggests

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Some children with mitochondrial diseases, such as Leigh syndrome, may benefit from using mTOR inhibitors like everolimus, an approved oral medicine for other conditions, a case series suggests. That treatment ... Read more

August 20, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

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Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people ... Read more