Pitt-Hopkins syndrome
MONDO:0012589Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
Also known as: Pitt-Hopkins syndrome, PTHS, Pitt Hopkins syndrome, encephalopathy, Severe epileptic, with autonomic dysfunction, intellectual disability, Syndromal, with intermittent hyperventilation, intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea, mental retardation, Syndromal, with intermittent hyperventilation
3 clinical trials for this condition and its sub-types, 3 tagged with Pitt-Hopkins syndrome itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
Could a cancer drug help kids with rare brain disorder?
Disease control Recruiting nowThis study is testing whether a drug called vorinostat is safe and helpful for people with Pitt Hopkins syndrome, a rare genetic condition that affects development. Five participants will each receive a placebo and two different doses of the drug in a special 'N-of-1' design, mea…
Phase 1 • Sponsor: Unravel Biosciences, Inc. • Aim: Disease control
Last updated Sep 19, 2026 00:00 UTC
-
Gene therapy breakthrough? first human trial launches for rare brain disorder
Disease control Recruiting nowThis study tests a new gene therapy called MZ-1866 for children and adults with Pitt Hopkins Syndrome, a rare genetic condition that affects development and breathing. The therapy is given as a single injection into the fluid around the brain. The main goal is to see if it is saf…
Phase 1/2 • Sponsor: Mahzi Therapeutics • Aim: Disease control
Last updated Aug 02, 2026 00:00 UTC