Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

Status unconfirmed · Phase 2

Conditions studied: Rett Syndrome

In brief

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.

Key facts

Study ID

NCT02696044

Run by

Center for Rare Neurological Diseases, Norcross, GA

People needed

12

Starts

2016-06-01

Expected to finish

2022-02-01

Last updated by the study team

2020-07-17

Who can join

Age: 2 and older. Sex: female. Healthy volunteers: not accepted.

You may qualify if…

• Diagnosis of Classic Rett syndrome as defined by the clinical consensus criteria
• Presence of a MECP2 mutation
• Post-regression stage of development, defined as greater than 6 months since the last loss of hand use or verbal language
• Average of at least 4 observable seizures (generalized or partial-onset [Generalized Tonic-Clonic, Generalized Tonic, Generalized Clonic, Generalized Atonic, Partial/Focal with Secondary Generalization, Myoclonic, Myoclonic Atonic, Myoclonic Tonic, Complex Partial/Focal, and Simple Partial/Focal Motor) in one month prior to the study by caregiver report or presence of dystonia on average at least four times in one month prior to the study in at least one body region rated as at least "mild" by caregiver report
• Use of at least one anti-seizure medication at screening visit
• At screening visit, managed on four or fewer concomitant anti-seizure medications that must have been stable in dose at least one month prior to the beginning of screening and anticipated to remain stable in dose through the end of the 8.5 month trial period
• Legally authorized caregiver must be willing to give written informed consent after the nature of the study has been explained, and prior to any research-related procedures
• Caregiver and participant must, in the opinion of the investigator, be willing and able to complete all aspects of the study, comply with accurate completion of the seizure and dystonia diaries, and be likely to complete the four month treatment period

You may not qualify if…

• Markedly abnormal metabolic screening laboratory testing (e.g., serum alanine aminotransferase (ALT) or aspartate aminotransferase (AST) levels exceeding 2X the upper limit of normal)
• Any known hypersensitivity to triheptanoin that, in the judgment of the investigator, places the subject at increased risk for adverse effects
• Prior use of triheptanoin within 1 month prior to screening
• Participants or caregivers who are unwilling or unable to discontinue use of a prohibited medication or other substance that may confound study objectives
• Use of any other investigational product, including drugs or supplements within 1 month prior to Screening, or at any time during the study
• Has a condition of such severity and acuity, in the opinion of the investigator, that it warrants immediate surgical intervention or other treatment
• Has a concurrent disease or condition, or laboratory abnormality that, in the view of the investigator, places the subject at high risk of poor treatment compliance or of not completing the study, or would interfere with study participation or introduces additional safety concerns (e.g., diabetes mellitus)
• Pregnant or nursing women

Where it is running

• Center for Rare Neurological Diseases — Norcross, Georgia, United States (enrolling)

Full record on ClinicalTrials.gov

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