Patricia Inácio, PhD,  science writer—

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Exenatide, a drug that mimics the effects of the gut hormone GLP-1, increased the levels of frataxin — a protein involved in iron metabolism, whose deficiency leads to Friedreich’s ataxia (FA) — in a mouse model of the disease, a new study shows. Treatment with exanatide also improved the…

A natural genetic mechanism may help reverse the genetic defect within the FXN gene — excessive repeats of a portion of DNA, called GAA triplets — that underlie Friedreich’s ataxia (FA), a recent study done in yeast shows. Researchers have found that a process that occurs while cells are…

A Phase 1 trial evaluating Chondrial Therapeutic’s investigational therapy CTI-1601 as a treatment for Friedreich’s ataxia patients has started dosing patients. The therapy was recently granted rare pediatric disease and fast track designations by the U.S. Food and Drug Administration (FDA), in addition to its…

Seelos Therapeutics received a Notice of Allowance from the U.S. Patent and Trademark Office (USPTO) covering the parenteral, or non-oral administration of SLS-005 (trehalose) for the treatment of neurodegenerative diseases characterized by abnormal protein aggregates.  The Notice of Allowance allows Seelos Therapeutics to finalize a patent — number…

Friedreich’s ataxia can occur as a late-onset disease, with symptoms appearing after age 50, a case-report shows. Late-onset cases lack the typical symptoms and disease progresses slowly, highlighting the need for genetic testing in cases of older patients showing difficulty coordinating movements or other atypical presentations to confirm the diagnosis. The…

Seelos Therapeutics received a Notice of Allowance from the United States Patent and Trademark Office covering the use of SLS-005 (trehalose) for the treatment of Friedreich’s ataxia. A Notice of Allowance allows Seelos Therapeutics to finalize a patent for SLS-005 for the treatment of the disease.

The oral glucose tolerance test showed higher sensitivity, compared with other diagnostic tools, and was able to detect up to three times more metabolic abnormalities in Friedreich ataxia patients, who commonly experience diabetes and impaired sugar tolerance, according to a small study. “Clinicians in charge of Friedreich ataxia patients and researchers…

Takeda and StrideBio have established a collaboration to develop new, more effective adeno-associated viruses (AAV) to be used as vehicles for in vivo delivery of gene therapies for Friedreich’s ataxia (FA) and other diseases. “StrideBio’s expertise and unique gene therapy technology holds great potential for significantly advancing…

A large, European registry study shows that Friedreich’s ataxia patients have a considerable spectrum of clinical symptoms that go beyond the typical neurological ataxia. Common non-neurologic clinical symptoms identified by researchers included abnormal eye movements and skeletal deformities, as well as urinary problems and heart disease. Their study, “Nonataxia…