MTT for Children With Both Pitt Hopkins Syndrome and Gastrointestinal Disorders

For children ages 5-17 years with PTHS and gastrointestinal problems, a Phase 2 clinical trial will evaluate the safety, tolerability, and efficacy of MTT.

Randomized, double-blind, placebo-Controlled Treatment (14 weeks)

The trial will be a randomized, double-blind, placebo-controlled trial which will include a 10-day treatment with oral vancomycin (or placebo), then 1 day of magnesium citrate to cleanse the bowel of vancomycin and bacteria/feces (all participants, since its bowel-emptying effect cannot be blinded), followed by oral administration of FM (or placebo). An initial high dose of FM (or placebo) for two days will be followed by a lower maintenance dose of FM (or placebo) for 12 weeks.

Group A: real treatment Group B: placebo vancomycin, real magnesium citrate, placebo FM

Inclusion criteria

• Children ages 7-17 years with Pitt Hopkins Syndrome (verified by genetic testing)
• GI disorder as defined below that has lasted for at least 2 years.
• No changes in medications, supplements, diet, or therapies in last 2 months, and no intention to change them during the Parts 1 and 2 of the clinical trial.
• Ability to swallow pills (without chewing)
• Review of last two years of medical records by the study physician.

Exclusion criteria

• Antibiotics in last 3 months
• Probiotics in last 2 months, or fecal transplant in last 12 months
• Tube feeding
• Severe gastrointestinal problems that require immediate treatment (life-threatening)
• Ulcerative Colitis, Crohn's Disease, diagnosed Celiac Disease, Eosinophilic Gastroenteritis, or similar conditions
• Unstable, poor health (based on study physician's opinion)
• Recent or scheduled surgeries
• Current participation in other clinical trials
• Females who are pregnant or who are at risk of pregnancy and sexually active without effective birth control.
• Allergy or intolerance to vancomycin or magnesium citrate
• Clinically significant abnormalities at baseline on two blood safety tests: Comprehensive Metabolic Panel, and Complete Blood Count with Differential.
• Evidence of significant impairment of immune system, or taking medications that can compromise the immune system, and thus increase risk if exposed to multiple-drug resistant bacteria.