Autism, susceptibility to, X-linked 2
MONDO:0010341A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).
Also known as: AUTSX2, autism susceptibility, X-linked 2, isolated cases, X-linked, autism, susceptibility to, X-linked 2, autism, susceptibility to, X-linked type 2, intellectual developmental disorder, X-linked, Isolated cases, X-linked, intellectual disability, X-linked, mental retardation, X-linked, susceptibility to X-linked autism 2
5 clinical trials for this condition and its sub-types.
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Gene therapy hope for toddlers with rett syndrome
Disease control OngoingThis study tests a one-time gene therapy called TSHA-102 in girls aged 2 to 4 with Rett syndrome, a severe genetic disorder. The therapy is given as a single injection into the spine. The main goal is to check if it is safe and tolerable, and to see early signs of whether it help…
Phase 3 • Sponsor: Taysha Gene Therapies, Inc. • Aim: Disease control
Last updated Aug 21, 2026 00:00 UTC
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New gene therapy hopes to restore milestones in rett syndrome
Disease control OngoingThis study tests a one-time gene therapy called TSHA-102 in females aged 6 to under 22 with classic Rett syndrome. The goal is to see if it is safe and can help them regain or gain new developmental skills like walking or talking. Participants receive the therapy through a spinal…
Phase 3 • Sponsor: Taysha Gene Therapies, Inc. • Aim: Disease control
Last updated Jul 09, 2026 00:00 UTC
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Can mapping a rare Gene's effects pave the way to targeted epilepsy therapies?
Knowledge-focused OngoingThis study follows children aged 6 to 21 who have a CNKSR2 gene mutation, which can cause epilepsy, language difficulties, and intellectual disability. Researchers will use brain scans, EEGs, and developmental tests to track how the condition changes over time. The goal is to cre…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jul 25, 2026 00:00 UTC