Updates

November 8, 2019November 8, 2019
Elamipretide Improves Cardiac Function in Barth Syndrome Patients, Phase 2/3 Data Show

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 ... Read more
October 25, 2019October 25, 2019
Phase 2 Retrospective Study of Therapy for TK2 Deficiency Shows Positive Results

A retrospective study of nucleoside therapy for treating the very rare mitochondrial disorder thymidine kinase 2 deficiency (TK2d) has shown positive results, including improved survival ... Read more
October 18, 2019October 18, 2019
Alexion, Stealth BioTherapeutics Agree to Option for Co-development of Elamipretide

Alexion has entered into an agreement with Stealth BioTherapeutics to help — depending on the results of a Phase 3 clinical trial — co-develop elamipretide, ... Read more
October 4, 2019October 4, 2019
Mutation in Nuclear Gene Associated with Symptoms of Mitochondrial Disease, Case Report Shows

A recent report that describes the case of a teenager with severe symptoms of multiple mitochondrial diseases, contends it may have been caused by ... Read more
September 27, 2019September 27, 2019
NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

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, ... Read more

News

GS010 Gene Therapy Continues to Improve Visual Acuity in LHON Patients After Two Years, Trial Data Show
September 27, 2019September 27, 2019
GS010, a gene therapy developed by GenSight Biologics, continues to lead to sustained improvements ...
News

Novel BCS1L Gene Variants Linked to Mitochondrial Disorders, Including GRACILE Syndrome
September 20, 2019September 20, 2019
Researchers have identified two novel variants of the BCS1L gene, linking one to a mitochondrial ...
News

Zogenix Acquires Modis and MT1621, Potential Oral Treatment for TK2 Deficiency
September 13, 2019September 13, 2019
Zogenix has acquired Modis Therapeutics and, in doing so, added to its portfolio MT1621, ...
News

Activities Abound for Global Mitochondrial Disease Awareness Week, Sept. 15-21
September 5, 2019September 5, 2019
From walks and runs, to discussions and illuminated landmarks, a myriad of activities are ...
News

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
August 30, 2019
Rare diseases deeply affect not only the children who experience them, but also their ...
News

mTOR Inhibitors May Benefit Some Children With Mitochondrial Diseases, Case Series Suggests
August 23, 2019August 23, 2019
Some children with mitochondrial diseases, such as Leigh syndrome, may benefit from using mTOR inhibitors ...

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Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
August 20, 2019
Imagine living your whole life with a painful disease so rare that only 25 ...
Protein’s Inability to Bind, Stabilize Mitochondrial Membrane Drives Optic Atrophy, Study Suggests
August 8, 2019August 8, 2019
Mutations in the OPA1 gene result in optic atrophy by disrupting the ability of ...
Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
August 2, 2019August 2, 2019
Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
August 1, 2019
Trial of Cholesterol Medication in Barth Syndrome Patients Opens in UK
July 26, 2019July 26, 2019
European Initiative Targets Diagnosis, Treatment of Rare Diseases
July 19, 2019

GenSight Completes Enrollment Early for Phase 3 Trial of GS010 Gene Therapy
July 19, 2019July 19, 2019
GenSight Biologics has completed full patient enrollment ahead of schedule for its ongoing Phase ...
New Lab Model Could Shed Light on Mitochondrial Epilepsy and Therapies
July 11, 2019July 11, 2019
World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
July 4, 2019
Phase 1/2 Trial of Mitochondrial Cell Therapy for Pearson Syndrome Starts Dosing
June 28, 2019June 28, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
June 26, 2019
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy ...
Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
June 21, 2019
Increasing mtDNA Levels Holds Potential for Tackling Mitochondrial Diseases, Mouse Study Suggests
June 21, 2019June 21, 2019

News

Elamipretide Improves Cardiac Function in Barth Syndrome Patients, Phase 2/3 Data Show
November 8, 2019November 8, 2019
Elamipretide (MT-131), developed by Stealth BioTherapeutics, is able to improve cardiac function in Barth ...
News

Phase 2 Retrospective Study of Therapy for TK2 Deficiency Shows Positive Results
October 25, 2019October 25, 2019
A retrospective study of nucleoside therapy for treating the very rare mitochondrial disorder thymidine ...
News

Alexion, Stealth BioTherapeutics Agree to Option for Co-development of Elamipretide
October 18, 2019October 18, 2019
Alexion has entered into an agreement with Stealth BioTherapeutics to help — depending on the ...
News

Mutation in Nuclear Gene Associated with Symptoms of Mitochondrial Disease, Case Report Shows
October 4, 2019October 4, 2019
A recent report that describes the case of a teenager with severe symptoms of ...
News

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC
September 27, 2019September 27, 2019
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, ...
News

GS010 Gene Therapy Continues to Improve Visual Acuity in LHON Patients After Two Years, Trial Data Show
September 27, 2019September 27, 2019
GS010, a gene therapy developed by GenSight Biologics, continues to lead to sustained improvements ...
News

Novel BCS1L Gene Variants Linked to Mitochondrial Disorders, Including GRACILE Syndrome
September 20, 2019September 20, 2019
Researchers have identified two novel variants of the BCS1L gene, linking one to a mitochondrial ...
News

Zogenix Acquires Modis and MT1621, Potential Oral Treatment for TK2 Deficiency
September 13, 2019September 13, 2019
Zogenix has acquired Modis Therapeutics and, in doing so, added to its portfolio MT1621, ...
News

Activities Abound for Global Mitochondrial Disease Awareness Week, Sept. 15-21
September 5, 2019September 5, 2019
From walks and runs, to discussions and illuminated landmarks, a myriad of activities are ...
News

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
August 30, 2019
Rare diseases deeply affect not only the children who experience them, but also their ...
News

mTOR Inhibitors May Benefit Some Children With Mitochondrial Diseases, Case Series Suggests
August 23, 2019August 23, 2019
Some children with mitochondrial diseases, such as Leigh syndrome, may benefit from using mTOR inhibitors ...
News

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
August 20, 2019
Imagine living your whole life with a painful disease so rare that only 25 ...

August 9, 2017August 9, 2017

Researchers Develop Method That May Help Diagnose Mitochondrial Diseases

News

Scientists have developed a new strategy for diagnosing mitochondrial diseases and identified the Mrps34 gene as a cause for Leigh syndrome. The study, “Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome,” was ... Read more