Updates

January 24, 2020January 24, 2020
Entrada Developing Enzyme Replacement Therapy ENTR-501 to Treat MNGIE Disease

Entrada Therapeutics is developing an enzyme replacement therapy, called ENTR-501, as a potential new treatment strategy for people with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is ... Read more
January 17, 2020January 17, 2020
NeuroVive Soon to Recruit Patients With Primary Mitochondrial Disease to Test its Oral Treatment Candidate

NeuroVive Pharmaceutical AB has completed recruitment of healthy subjects for the second part of an ongoing Phase 1a/b study testing its oral treatment candidate ... Read more
January 10, 2020January 10, 2020
Elamipretide Failed to Meet Promise of Earlier Trial Results for Primary Mitochondrial Myopathy, Data Show

Treatment candidate elamipretide did not meet expectations stemming from promising early trial results in patients with primary mitochondrial myopathy (PMM), data from a Phase ... Read more
January 3, 2020January 3, 2020
New Fluorescent Marker Allows Detailed Study of Mitochondria in Live Cells, Study Reports

MitoPB Yellow, a new fluorescent specific marker, allows scientists to study live mitochondria, possibly leading to a better understanding of mitochondrial diseases and to ... Read more
December 20, 2019December 20, 2019
LHON Natural History Study Highlights Improvements in Visual Acuity From Lumevoq Treatment

Patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes vision loss, experienced a dramatic and mostly irreversible loss of ... Read more

News

Gene Therapy Takes Center Stage at 2019 NORD Summit
December 10, 2019December 10, 2019
With so much recent publicity surrounding gene therapy, it’s no surprise that the topic ...
News

New Mouse Model May Advance Understanding of Mitochondria Protein Production and Dysfunction, Researchers Say
December 6, 2019December 17, 2019
A new mouse model may help scientists deepen their knowledge about mitochondria, the cell ...
News

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases
December 5, 2019December 5, 2019
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or ...
News

Rare Disease Film Festival Highlights Patient and Researcher Unity
November 15, 2019November 16, 2019
Rare disease-themed videos glowed on a large screen before an audience of people in ...
News

Researchers Discover How Mitochondrial DNA is Transferred From Mother to Child
November 15, 2019November 15, 2019
Researchers in Spain have made a discovery that has important implications for treatment strategies ...
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 ...

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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 ...
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 ...
Mutation in Nuclear Gene Associated with Symptoms of Mitochondrial Disease, Case Report Shows
October 4, 2019October 4, 2019
NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC
September 27, 2019September 27, 2019
GS010 Gene Therapy Continues to Improve Visual Acuity in LHON Patients After Two Years, Trial Data Show
September 27, 2019September 27, 2019
Novel BCS1L Gene Variants Linked to Mitochondrial Disorders, Including GRACILE Syndrome
September 20, 2019September 20, 2019

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, ...
Activities Abound for Global Mitochondrial Disease Awareness Week, Sept. 15-21
September 5, 2019September 5, 2019
‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
August 30, 2019
mTOR Inhibitors May Benefit Some Children With Mitochondrial Diseases, Case Series Suggests
August 23, 2019August 23, 2019

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
Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
August 2, 2019August 2, 2019

News

Entrada Developing Enzyme Replacement Therapy ENTR-501 to Treat MNGIE Disease
January 24, 2020January 24, 2020
Entrada Therapeutics is developing an enzyme replacement therapy, called ENTR-501, as a potential new ...
News

NeuroVive Soon to Recruit Patients With Primary Mitochondrial Disease to Test its Oral Treatment Candidate
January 17, 2020January 17, 2020
NeuroVive Pharmaceutical AB has completed recruitment of healthy subjects for the second part of ...
News

Elamipretide Failed to Meet Promise of Earlier Trial Results for Primary Mitochondrial Myopathy, Data Show
January 10, 2020January 10, 2020
Treatment candidate elamipretide did not meet expectations stemming from promising early trial results in ...
News

New Fluorescent Marker Allows Detailed Study of Mitochondria in Live Cells, Study Reports
January 3, 2020January 3, 2020
MitoPB Yellow, a new fluorescent specific marker, allows scientists to study live mitochondria, possibly ...
News

LHON Natural History Study Highlights Improvements in Visual Acuity From Lumevoq Treatment
December 20, 2019December 20, 2019
Patients with Leber hereditary optic neuropathy (LHON), a rare genetic mitochondrial disease that causes ...
News

Gene Therapy Takes Center Stage at 2019 NORD Summit
December 10, 2019December 10, 2019
With so much recent publicity surrounding gene therapy, it’s no surprise that the topic ...
News

New Mouse Model May Advance Understanding of Mitochondria Protein Production and Dysfunction, Researchers Say
December 6, 2019December 17, 2019
A new mouse model may help scientists deepen their knowledge about mitochondria, the cell ...
News

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases
December 5, 2019December 5, 2019
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or ...
News

Rare Disease Film Festival Highlights Patient and Researcher Unity
November 15, 2019November 16, 2019
Rare disease-themed videos glowed on a large screen before an audience of people in ...
News

Researchers Discover How Mitochondrial DNA is Transferred From Mother to Child
November 15, 2019November 15, 2019
Researchers in Spain have made a discovery that has important implications for treatment strategies ...
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 ...

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