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…
News
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…
Shape Therapeutics and the Rett Syndrome Research Trust (RSRT) are teaming up to advance the development of SHP-401, Shape’s experimental one-time gene therapy for certain people with Rett syndrome. RSRT will fund tests of SHP-401 in non-human primates to evaluate the therapy’s distribution in the body and…
Taysha Gene Therapies is preparing for the potential commercial launch of TSHA-102, its experimental gene therapy for Rett syndrome now in pivotal clinical testing. To support the potential launch, Taysha recently announced a commercial supply agreement with Catalent, a pharmaceutical manufacturing company. Under the agreement, Catalent will be…
Modifications to MeCP2, the protein whose dysfunction underlies most cases of Rett syndrome, may help explain the wide range of symptoms seen in people with the condition, a new mouse study suggests. The study found that combining two chemical MeCP2 modifications produced complex behavioral and molecular effects that differed…
Only a small percentage of boys with Rett syndrome received treatment with Daybue (trofinetide) in the more than one year after the therapy was approved in the U.S., according to a real-world study of healthcare claims data. Before treatment, boys treated with Daybue had a greater burden of…
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