Treatment with a 150 mg daily oral dose of omaveloxolone over 48 weeks in the study resulted in a significant improvement in the symptoms of Friedreich’s ataxia – measured using the mFARS ...

Chondroectodermal dysplasia is a genetic, autosomal recessive condition, meaning a child receives an abnormal gene from each parent. The defect results in a problem that occurs when the cartilage ...

The genesis of this program stemmed from our long term commitment to the FA community and our close relationship with the Friedreich's Ataxia Research Alliance (FARA) and members of the community ...

The genesis of this program stemmed from our long term commitment to the FA community and our close relationship with the Friedreich's Ataxia Research Alliance (FARA) and members of the community ...

application for SGT-212 for the treatment of Friedreich’s ataxia (FA), a degenerative disease caused by insufficient levels of the frataxin protein. SGT-212 is the Company’s novel, AAV-based ...

Methods The authors performed sequencing of known Coenzyme Q10 (CoQ10) deficiency genes in 22 patients with unexplained recessive or sporadic ataxia. Results CABC1/ADCK3 mutations were detected in ...

In such cases, an inability to balance is a symptom known as ataxia. But ataxia can also be its own condition or disease. As a stand-alone condition, "ataxia is a degenerative disease of the ...

Into that void have sprouted many competing hypotheses about the biology of long Covid, as well as connected ideas about potential treatments. But most theories are still at an early scientific stage.

as a potential new treatment for recessive dystrophic epidermolysis bullosa (RDEB). The FDA has assigned a Prescription Drug User Fee Act (PDUFA) target action date of April 29, 2025. "The FDA ...

As a pathophysiological mechanism, a dysregulation of the immune system, involving among others macrophages, T cells, and NK cells, has been supposed and treatment with TNF inhibitors was found to be ...

So we decided to try one of the proven drugs, memantine. It is used in the treatment of Alzheimer's disease, but could also potentially be suitable for the therapy of spinocerebellar ataxia,"—says ...