Posts by: Alice Melão

Alice Melão

August 31, 2018August 31, 2018

Investigational Therapy Jotrol Shows Potential to Treat Mitochondrial Disorders, Mouse Study Suggests

News

Jotrol, Jupiter Orphan Therapeutics’ lead therapeutic candidate, was found to markedly improve mitochondria production in the liver and brain of mice with Alzheimer’s disease, according to preclinical data. These recent ... Read more

August 17, 2018August 17, 2018

Patients Groups Funding Research Project Focused on Developing New Nucleoside Therapy

News

The Mito Foundation and The Lily Foundation are joining efforts to support the development of a nucleoside therapy to treat mitochondrial depletion syndromes. This announcement from the two patients groups ... Read more

July 27, 2018July 27, 2018

SLC25A4 Gene Mutation Linked to Mild Mitochondrial Myopathy in Children, Case Study Shows

News

A new mutation identified in the SLC25A4 gene has been linked to childhood-onset mild myopathy (muscle disease) in a case study from the Children’s Hospital of Philadelphia (CHOP). The ... Read more

July 13, 2018July 13, 2018

Cerebrospinal Fluid Biomarker NfL Can Help Monitor Nerve Cell Degeneration, Study Says

News

Analysis of a cerebrospinal fluid protein called neurofilament light (NfL), which is linked to nerve cell damage, can help monitor the neurodegenerative process in patients with mitochondrial diseases. This ... Read more

June 22, 2018June 23, 2018

Stealth Raises $100M to Advance Elamipretide as Treatment for Mitochondrial Diseases

News

Stealth BioTherapeutics announced that it has raised $100 million from investors to support the development of elamipretide and other compounds that might treat diseases involving mitochondria dysfunction. “We are gratified by ... Read more

June 8, 2018June 8, 2018

Mutations in MRPS2 Gene Linked to Mitochondrial Dysfunction for First Time, Case Report Shows

News

New genetic mutations affecting the MRPS2 gene were identified as the cause of mitochondrial disorder in two unrelated children, a case report shows. The study, “Bi-allelic Mutations in the ... Read more

March 21, 2018March 21, 2018

Mitochondrial DNA Reaction Can Lead to Mutations That Cause Disease, Study Reports

News

Mitochondrial DNA can react with certain chemicals in the body to produce compounds that trigger genetic mutations — and the mutations can lead to mitochondrial disease, a study reports. ... Read more

March 5, 2018

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

News

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

February 28, 2018

Gene Therapy GS010 Is Safe, Well Tolerated by LHON Patients in Phase 1/2 Trial

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Phase 1/2 trial long-term clinical data on GS010 showed that it is safe and can improve visual acuity in patients with Leber hereditary optic neuropathy (LHON), a mitochondrial disease ... Read more

February 12, 2018

Distinct and New Mitochondrial Disease Seen in Children with Certain PARS2 Mutations in Study

News

Researchers are suggesting that genetic variants of the PARS2 gene are responsible for an entirely new mitochondrial disease, one with distinctive clinical and molecular patterns. Their findings were reported in “Clinical ... Read more

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