The term “Rett-like” may offer little information about a person’s condition or what to expect over time, a systematic review suggests. The label is often used for people who have some features of Rett syndrome but do not meet the criteria for a diagnosis. Researchers reviewed published reports of…
News
A girl in Sweden who was diagnosed with Rett syndrome at age 7 despite testing negative for standard gene mutations was found to have an “alternative genetic cause” for the rare disease: a change in the DNA sequence of the GABBR2 gene. The researchers say this child’s case shows…
Levels of the genetic instructions for a brain receptor protein were reduced in people with Rett syndrome and in a mouse model of the disease, but activating the receptor produced little to no benefit in mice, a U.S. study found. Researchers found lower levels…
October is Rett Syndrome Awareness Month, and advocates are gathering for in-person events and making their voices heard online to raise awareness about Rett syndrome, a rare genetic condition that causes developmental abnormalities. As in years past, key goals of Rett Syndrome Awareness Month 2026 include fundraising to…
A woman in her 60s with Rett syndrome and long-standing, difficult-to-treat epilepsy experienced a “remarkable” reduction in seizures after starting treatment with Daybue (trofinetide), according to a case report from a trio of U.S. researchers. The woman, who was only officially diagnosed with the rare genetic disease at…
Researchers identified a genetic signature that explains why some people who carry certain mutations in the MECP2 gene, called C-terminal deletions (CTDs), develop Rett syndrome, while others do not. The discovery’s clinical significance was demonstrated when a severe Rett mouse model, treated with a gene-editing strategy to convert a…
A medication that’s currently used to treat Parkinson’s disease showed potential for addressing breathing problems associated with Rett syndrome in a mouse study. Scientists found that abnormal activity in the carotid body, a small structure in the neck that helps monitor oxygen levels in the blood, contributed to Rett-like…
Blocking HSF1, a protein active during the cellular stress response, may be a novel therapeutic target for easing symptoms in Rett syndrome, a new study suggests. Researchers found that an overactive cellular stress response driven by HSF1 appeared to worsen symptoms in Rett mice. Blocking the HSF1 pathway —…
The European Commission has approved Acadia Pharmaceuticals’ Daybu (trofinetide) — sold elsewhere as Daybue — as the first treatment authorized in the European Union for disease-related behavioral, emotional, and communication issues in people with Rett syndrome, ages 5 and older. The oral therapy, taken by mouth or via a…
With a Phase 3 trial currently in progress, Neurogene is getting ready to file an application seeking approval of NGN-401, the company’s experimental gene therapy for Rett syndrome. Neurogene recently completed dosing in the Phase 3 Embolden clinical trial (NCT05898620), which is testing NGN-401 in 25…
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