News

Impairments in the cerebellum — a brain region responsible for controlling balance and movement coordination — contribute, in part, to motor impairments associated with Rett syndrome, a mouse study has found. These findings highlight the importance of understanding which brain areas contribute to the onset of specific symptoms associated…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

The United States Patent and Trademark Office (USPTO) has issued an allowance for a patent submitted by DiamiR for methods the company developed that use microRNA (miRNA) as biomarkers of Rett syndrome and other neurodevelopmental diseases.  Notices of Allowance are issued by…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Novartis Gene Therapies is planning to submit an investigational new drug application (IND) for OAV201, its Rett syndrome gene therapy candidate, by the end of the year, the company announced in a letter to the Rett community. If the IND is approved by the U.S. Food and Drug Administration…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

People with Rett syndrome have significantly weaker electrical responses in the brain to visual and auditory stimuli than do their healthy peers, according to an analysis of patients in a natural history study in the U.S. The strength of these responses was also associated with both age and disease severity.

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Dystonia, or excessive involuntary muscle contractions, are linked in Rett syndrome with abnormal iron accumulation in certain brain regions, a study suggests. The study, “Correlation of dystonia severity and iron accumulation in Rett syndrome,” was published in the…

Despite being safe, one year of treatment with Gilenya (fingolimod) in young girls with Rett syndrome failed to ease such disease symptoms as lack of communication, motor impairments, and apraxia, or the inability to perform movements previously learned, a small Phase 1/2 trial showed. Moreover, the findings from the…