Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

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Brief Title

Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

Official Title

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

Brief 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.
    

Study Phase

Phase 2

Study Type

Interventional


Primary Outcome

Change in Clinical Seizure Frequency

Secondary Outcome

 Change in Dystonia Severity

Condition

Rett Syndrome

Intervention

triheptanoin

Study Arms / Comparison Groups

 Participants aged 0 months to 3 years
Description:  Participants will receive 4 grams of triheptanoin per kilogram of body weight daily.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Drug

Estimated Enrollment

12

Start Date

June 2016

Completion Date

February 2022

Primary Completion Date

February 2021

Eligibility Criteria

        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
      

Gender

Female

Ages

2 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Daniel Tarquinio, DO, 207-590-6945, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT02696044

Organization ID

IRB00085194


Responsible Party

Principal Investigator

Study Sponsor

Center for Rare Neurological Diseases, Norcross, GA

Collaborators

 Ultragenyx Pharmaceutical Inc

Study Sponsor

Daniel Tarquinio, DO, Principal Investigator, Center for Rare Neurological Diseases


Verification Date

July 2020