In Japan researchers at the Juntendo University have discovered that when ECHS1 enzyme variations of mitochondrial enoyl-CoA hydratase short chain 1 (ECHS 1) do not function properly, they cause…
Reanna and Malaky always knew they wanted to start a family together. They tried for a while without success—so they were thrilled when they learned that Reanna was pregnant with…
In the United States, the FDA grants Orphan Drug designation to drugs or biologics intended to diagnose, prevent, or treat rare conditions (those affecting fewer than 200,000 people in…
Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…
Ten years ago, a biochemist was seeking investors for her new company that was developing mitochondrial-based medicines. The Israeli-born embryologist observed how the blending of mitochondria from one egg…
According to a story from PR Newswire, the pharmaceutical company Saol Therapeutics has recently announced that it has completed its enrollment goals for its phase 3 clinical trial. This trial…
Scientists affiliated with Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia recently identified a novel mitochondrial disorder in a pair of identical twins. Doctors began studying these twins when…
Happy Monday! This week, we have stories on a potential treatment approach for an aggressive form of mitochondrial disease, an experimental treatment for osteosarcoma earning Rare Pediatric Disease designation, and…
Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…
FBXL4-related mitochondrial disease urgently requires new therapies. Unfortunately, this condition is often fatal by early ages (early to mid-childhood). Therefore, it is important to spur research into potential interventions or…
Mitochondria are called the ‘batteries’ that send power to our body’s cells. They convert energy from food into forms that cells can utilize. Mitochondria contain 0.1% of mitochondrial DNA (mtDNA)…
There is a need for more research into Leigh syndrome, as there are currently no FDA-approved treatments, and the patient population faces an unmet need. However, in order for there…
According to a recent article, a young girl’s struggle with mitochondrial disease has led to a mitochondrial donation bill finally being brought to vote in Parliament in Australia. Mitochondrial Diseases…
Written by Gina Baker This year Global Mitochondrial Disease Awareness week is September 19-25, but my family and I will continue to fight this battle for the rest of…
Ryan Alam was diagnosed with mitochondrial-membrane protein-associated neurodegeneration (MPAN), a rare form of neurodegeneration with brain iron accumulation (NBIA), but he hasn't let these conditions slow him down. He has just…
Mitochondrial Disease Mitochondrial disease is a rare and progressive condition that currently does not have a cure. The mitochondria is responsible for providing energy to the body. This energy is used…
A recent study published in PLOS ONE has reinforced the importance of vaccinations specifically for those already fighting a rare disease. This study was written by Sylvie Lesage from the…
The third week of September is recognized annually as Mitochondrial Disease Awareness Week. This global event is held in order to increase awareness of mitochondrial disease in the medical community…
Well-known characteristics of aging are the loss of skeletal muscle mass and a general decline in all of the organs in the body. The speed of decline coincides with the…
As reported in Liverpool Echo; Faye was just 12 she began to have difficulty walking. She didn't realize it was her first encounter with the devastating disease that she had…
A recent study published in the Orphanet Journal of Rare Diseases examines the psychological burden of mitochondrial diseases in children that are suspected of having some form of it but have yet…
The Boston Globe recently interviewed the principals in a case brought by the Pelletier family against the Boston Children’s Hospital. The article gives details about a family’s charge of…
According to a story from Malaysian Tribune, the pharmaceutical company Khondrion has just announced that the first patients have been dosed in its phase IIb clinical trial. This trial is…
Khondrion has just announced that the very first patient has been dosed in their Phase 2b study for mitochondrial diseases called KHENERGYZE. This patient population has a high unmet need…
Some scientists never have the opportunity to meet a single patient in the community of the disease they work their entire lives trying to understand. This can make them feel…
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