Health Conditions
Pitt-Hopkins Syndrome
Pitt-Hopkins Syndrome is a rare genetic disorder that causes developmental, intellectual, and physical disabilities. Only about 500 people globally are known to have Pitt Hopkins Syndrome.
Symptoms
Patients with Pitt-Hopkins Syndrome can experience:
Delays in learning how to walk
Difficulty with communication
Constipation
Epilepsy
Microcephaly, abnormally small head size
Nearsightedness
Crossed eyes
Trouble breathing
Causes
Pitt-Hopkins syndrome is caused by a mutation in the TCF4 gene. This gene is in charge of proteins that affect the development of the brain and nervous system. A child is at a 50% higher risk of developing the condition if one parent also has the mutation, however, in the majority of cases the mutation is not inherited.
Treatment
Pitt-Hopkins syndrome is not curable, but there are treatment options to help manage symptoms. These may include physical, occupational and speech therapies, epilepsy management medications, psychiatric and behavioral medications and/or stool softeners and laxatives for gastrointestinal symptoms.
Microbiota Therapy Research
Achieving Cures Together research partners at Arizona State University are investigating the effect of microbiota transplant therapy on patients with Pitt-Hopkins disease.
Microbiota Transfer Therapy for Children and Adults With Both Pitt Hopkins Syndrome and Gastrointestinal Disorders
Trial Location: Arizona State University – Tempe, AZ
Trial Status: Underway
Trial Summary:
Researchers at Arizona State University are studying the safety and efficacy of Microbiota Transplant Therapy in treating patients with Pitt-Hopkins Syndrome and gastrointestinal symptoms through a Phase II clinical trial.
For more information, visit: https://clinicaltrials.gov/study/NCT06321796<strong>MTT for Children With Both Pitt-Hopkins Syndrome and Gastrointestinal Disorders</strong>
<strong>Trial Location:</strong> Arizona State University – Tempe, AZ
<strong>Trial Status:</strong> Completed
<strong>Trial Summary:</strong>
Dr. Adams and Dr. Krajmalnik-Brown at Arizona State University led a Phase 2, double-blind, placebo-controlled trial assessing the impact of Microbiota Transfer Therapy in patients with Pitt-Hopkins Disease, a genetic disease associated with a severe form of Autism. The study demonstrated microbiota transfer therapy is safe in Pitt-Hopkins patients. Additionally, improvements in gastrointestinal and other Pitt-Hopkins symptoms were seen.
For more information, visit: <a href=”https://clinicaltrials.gov/study/NCT04132427″ target=”_blank” rel=”noopener”>https://clinicaltrials.gov/study/NCT04132427</a>
Research Partner Perspectives
2025 Webinar: Dr. Adams
2022 Growing Hope Research Update: Dr. Adams
Research Alerts