News

Taysha Gene Therapies has launched the clinical development of TSHA-102, an investigational gene therapy for Rett syndrome. The move follows the recent approval of a clinical trial application (CTA) by Health Canada. The Sainte-Justine Mother and Child University Hospital Center, in Montreal, will serve as the initial clinical…

The International Rett Syndrome Foundation (IRSF) has seen its federal funding efforts rewarded in the U.S. as a bill — passed in early March for the 2022 fiscal year and signed into law by the president — will include possible research monies for Rett syndrome. The rare neurodevelopmental…

Activating the mGlu2 and mGlu3 receptors in the brain reversed learning deficits in a Rett syndrome mouse model, a study reported. The levels of both of these receptors were significantly lower in the brains of Rett mice, as well as Rett patients. These results support further investigation into mGlu2…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

Treatment with omega-3 fatty acid restored the function of mitochondria, the production centers of cellular energy, in brain cells called astrocytes lacking MeCP2 — the key protein in most cases of Rett syndrome, a study reported. The study, “Docosahexaenoic acid increased MeCP2 mediated…

Scientists were able to improve memory recall in Rett syndrome mice by activating a set of inhibitory brain cells called somatostatin-expressing interneurons (SOM), in part by using a miniature microscope that allowed them to monitor the animals’ neurons. Deficiencies in the SOM nerve cells contributed to impairments in long-term…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

Supplementing with Vitamin D rescued the altered activity of genes associated with Rett syndrome and improved behaviors in a mouse model, a study showed. The findings indicate that supplementation could provide a simple, cost-effective therapeutic option to help Rett patients, the scientists said. The study, “Vitamin…

A six-month intensive and individualized exercise program prevented the progression of scoliosis, a sideways curvature of the spine, in most girls and women with Rett syndrome taking part in a study. In two young patients, the intervention completely corrected the spine’s curve. “This result is highly significant as no spontaneous scoliosis curve…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…