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
7 clinical trials for this condition and its sub-types.
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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: PHASE1, PHASE2 • Sponsor: Mahzi Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:31 UTC
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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: PHASE1 • Sponsor: Unravel Biosciences, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:28 UTC
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC