Parents of children with Rett syndrome are able to detect disease-specific differences in the sounds made by babies who have not yet begun to speak. That’s according to a study, “Learning about neurodiversity from parents – Auditory gestalt perception of prelinguistic vocalisations,” published in Research…
News
Taysha Gene Therapies has received the go-ahead to continue clinical testing of TSHA-102, its gene therapy for Rett syndrome, and now is readying to dose a second patient, the company announced. The experimental gene therapy is being evaluated in REVEAL (NCT05606614), a Phase 1/2 trial that’s recruiting up…
The International Rett Syndrome Foundation (IRSF) has launched the My Rett Ally app as a digital tool to help parents and caregivers of people with Rett syndrome, calling it “a valuable addition to the resource toolkit.” Free to those who care for Rett patients in the U.S., the…
Acadia Pharmaceuticals has expanded its licensing agreement with Neuren Pharmaceuticals to commercialize Daybue (trofinetide) — the first and only therapy approved for Rett syndrome — outside of North America. Daybue was originally developed by Neuren, which licensed its rights in North America to Acadia in 2018.
A pharmaceutical company in Italy is teaming up with scientists at the Sapienza University of Rome to find out if blocking NKCC1 — a protein that loads chloride ions into nerve cells, or neurons — may reduce brain activity in people with epilepsy and certain neurological disorders like Rett…
Long-term treatment with Anavex 2-73 (blarcamesine) provided sustained reductions in disease severity and progression for adult Rett syndrome patients, according to findings from the open-label extension (OLE) part of a Phase 2 trial. The reductions were significantly greater in patients who were initially assigned to Anavex 2-73 in…
For caregivers of people with Rett syndrome, symptoms related to communication, mobility, and functional hand movements are the most important targets of treatment, according to a recent survey. When asked about all the symptoms included on the Rett Syndrome Behavior Questionnaire (RSBQ) — a standard way of evaluating Rett…
More than a quarter of men at large may carry mutations causing Rett syndrome in a portion of their sperm, a study suggests. The study, “MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males,”…
Anavex Life Sciences has completed dosing all 92 girls with Rett syndrome taking part in a clinical trial testing the safety of its oral treatment candidate Anavex 2-73 (blarcamesine). Top-line data from this Phase 2/3 study of Anavex 2-73 — which aims to ease the symptoms of the…
The first patient has been dosed with TSHA-102, an investigational gene therapy by Taysha Gene Therapies, to treat Rett syndrome. The Phase 1/2 trial, dubbed REVEAL (NCT05606614), is still recruiting up to 12 women with Rett syndrome at its single site in Montreal, Canada. Early safety data…
Recent Posts
- Opening day, and that time a ribbon wasn’t the only thing that was cut
- Fenfluramine reduces hard-to-treat seizures in 3 girls with Rett syndrome
- ‘Spread the Word Day’ reminds me of our own encounter with the R-word
- New study supports switching between Daybue liquid and powder forms
- Leaky blood vessels in the brain linked to Rett syndrome: Study
- A song, an obit, and a special needs parent meltdown
- The importance of raising awareness of disabilities at school
- Boosting production of mutant protein causing Rett may be new treatment
- What we’ve learned in 29 years as Rett syndrome parents
- Acadia to challenge negative opinion on Daybue approval in EU