NCT02696044

Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin: An Open-label, 10-subject Clinical Trial of UX007 (Triheptanoin) in the Treatment of Mitochondrial Dysfunction in Participants With Rett Syndrome, Dyskinesia, and Epilepsy

• Status: Unknown
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 12 (estimated)
• Sponsor: Center for Rare Neurological Diseases, Norcross, GA · Academic / Other
• Sex: Female
• Age: 2 Years
• Healthy volunteers: Not accepted

Summary

The aim of this study is to evaluate the safety and tolerability of triheptanoin in participants with Rett syndrome using laboratory values, electrocardiogram, rate of adverse events (AE), and physical exam.This study also seeks to evaluate the efficacy of UX007 (triheptanoin) in improving overall seizure frequency and dystonia.

Detailed description

The aim of this study is to evaluate the safety and tolerability of triheptanoin in participants with Rett syndrome using laboratory values, electrocardiogram, rate of adverse events (AE), and physical exam. This study also seeks to evaluate the efficacy of UX007 (triheptanoin) in improving overall seizure frequency, dystonia severity, and quality of life. Participants who are eligible will take triheptanoin daily. Participation in the primary arm of this study will last up to 8.5 months, with an optional 36 month extension.

Conditions

• Rett Syndrome

Interventions

Type	Name	Description
DRUG	triheptanoin	Participants will begin a 2 week dose titration period to achieve study drug treatment comprising of 1-4 grams per kilogram of body weight (g/kg) daily depending on age. The age-related target dose will be mixed with food or formula and administered orally or by gastronomy tube. The total daily dose can be divided into 4 equal doses taken 4 times daily. Participants will maintain the age dependent dose treatment at the 1-4 g/kg daily for four months.

Timeline

• Start date: 2016-06-01
• Primary completion: 2021-02-01
• Completion: 2022-02-01
• First posted: 2016-03-02
• Last updated: 2020-07-17

Locations

1 site across 1 country: United States