Pitt-Hopkins SyndromeSymptoms, Doctors, Treatments, Advances & More
Pitt-Hopkins Syndrome Overview
Learn About Pitt-Hopkins Syndrome
Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.
Mutations in the TCF4 gene cause Pitt-Hopkins syndrome. This gene provides instructions for making a protein that attaches (binds) to other proteins and then binds to specific regions of DNA to help control the activity of many other genes. On the basis of its DNA binding and gene controlling activities, the TCF4 protein is known as a transcription factor. The TCF4 protein plays a role in the maturation of cells to carry out specific functions (cell differentiation) and the self-destruction of cells (apoptosis).
Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Tonis Timmusk practices practicing medicine in Tallinn, Estonia. Timmusk is rated as an Elite expert by MediFind in the treatment of Pitt-Hopkins Syndrome. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses Pitt-Hopkins Syndrome, Hyperventilation, Schizophrenia, and Huntington Disease.
Marcella Zollino practices practicing medicine in Rome, Italy. Ms. Zollino is rated as an Elite expert by MediFind in the treatment of Pitt-Hopkins Syndrome. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Pitt-Hopkins Syndrome, Wolf-Hirschhorn Syndrome, Achalasia Microcephaly Syndrome, and Microcephaly.
Giuseppe Marangi practices practicing medicine in Rome, Italy. Mr. Marangi is rated as an Elite expert by MediFind in the treatment of Pitt-Hopkins Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Pitt-Hopkins Syndrome, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, and Microcephaly.
Summary: The goal of this clinical trial is to learn if MZ-1866 is a safe and tolerable treatment for children and adults with Pitt Hopkins Syndrome. To evaluate the safety of MZ-1866, the following will be evaluated: * frequency and severity of adverse events * physical exam, laboratory results and electrocardiogram findings Participants will: * receive a single dose of MZ-1866 by intracerebroventricular ...
Summary: The study is an exploratory evaluation of the safety and efficacy of vorinostat in Pitt Hopkins syndrome. Each patient will be self-controlled in an adapted N-of-1 study design methodology with three treatment arms, including a 4-week placebo phase and two vorinostat dose arms, including every 8 weeks of daily dosing at a low dose of 80mg/m2/day and 8 weeks of a higher dose at 160mg/m2/day. Key ob...
Published Date: February 01, 2015
Published By: National Institutes of Health