Problems with skilled learning tasks that involve motor function and making sense of sounds — known to be affected by Rett syndrome — were seen in rat model of the disease and consistent with these deficits in patients, a study reported. These findings could support work into…
Taysha Gene Therapies and Catalent have established a partnership to advance Taysha’s gene therapies for neurological disorders, including Rett syndrome. The partnership allows Taysha to use Catalent’s gene therapy facilities in Maryland to expand the company’s manufacturing capacity. The gene therapy for Rett, called TSHA-102, uses a modified,…
Of the people who know about Rett syndrome, many think it affects only females. But families of boys with this disorder know differently. Parents of children with an ultra-rare manifestation of this already rare and little-known disease find each other online and grow close in this…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…
As the Rett Syndrome Research Trust (RSRT) prepares to launch a global database of caregiver-provided information called The Rett Syndrome Global Registry, it is seeking families to participate in a pilot program to test its objectives. The goal in launching the registry is threefold: first, to provide a…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
Treatment with the antidepressant mirtazapine preserves motor and respiratory function, as well as social behavior, in women with Rett syndrome, a study shows. Improved motor function also was seen in a mouse model of the disorder. The study, “Protective role of mirtazapine in adult female…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
The U.S. Food and Drug Administration (FDA) has granted orphan drug and rare pediatric disease designations to TSHA-102, a potential gene therapy for Rett syndrome. Taysha Gene Therapies, the treatment’s developer, plans to submit an investigational new drug application to the FDA in 2021 to…
Researchers have identified a new mutation in the KIF1A gene in a girl in Australia that is associated with Rett syndrome, ending her 15-year diagnostic journey. Two new other KIF1A mutations also were found in two patients showing a severe neurodevelopmental disorder with some Rett-like features. These mutations affected…
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