Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

  • STATUS
    Recruiting
  • days left to enroll
    73
  • participants needed
    12
  • sponsor
    Center for Rare Neurological Diseases, Norcross, GA
Updated on 9 February 2021
electrocardiogram
seizure
triheptanoin

Summary

Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin: 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.

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.

Details
Condition Rett Syndrome
Treatment Triheptanoin
Clinical Study IdentifierNCT02696044
SponsorCenter for Rare Neurological Diseases, Norcross, GA
Last Modified on9 February 2021

Eligibility

Yes No Not Sure

Inclusion Criteria

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

Exclusion Criteria

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
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