News

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…

Patients with milder forms of IQSEC2‐related intellectual disability experience symptoms and have an overall clinical course very similar to those with atypical Rett syndrome, a study has found. Based on these similarities, people carrying IQSEC2 gene mutations may be included in the wide clinical spectrum of Rett, and this form…

Use of PTX-BD4-3, a small molecule that activates a protein receptor involved in a pathway that appears to be impaired in Rett syndrome, improved motor and respiratory function in a mouse model of the disease, a study found. These findings support further studies to better characterize PTX-BD4-3, possibly preparing…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…