On Jan. 3, 2012 — my husband’s birthday — our late daughter, Cammy, received her voice. It wasn’t a voice in the traditional sense, as it didn’t come from her mouth or vocal cords. Rather, it came from a computer — a technology so advanced it felt almost unreal.
A Phase 3 clinical trial testing the experimental gene therapy NGN-401 for Rett syndrome is underway and continuing to enroll participants, according to an update from its developer, Neurogene. The Phase 3 study, called Embolden (NCT05898620), aims to test NGN-401 in 20 girls and young women with…
The pivotal REVEAL clinical trial — a Phase 3 study testing Rett syndrome gene therapy candidate TSHA-102 — has dosed its first participant, according to an update from treatment developer Taysha Gene Therapies. REVEAL (NCT05606614) is expected to enroll 15 girls and young women with a confirmed…
The U.S. Food and Drug Administration (FDA) has approved Daybue Stix (trofinetide), a dye- and preservative-free powder formulation of Daybue (trofinetide), as a treatment for adults and children, ages 2 and older, with Rett syndrome. The new formulation will provide Rett patients greater flexibility and choice in dose…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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