A Comparative Phase 2 Study Assessing the Efficacy of Triheptanoin, an Anaplerotic Therapy in Huntington's Disease

• Status: Completed
• Trial end date: 2019-12-03
• Target enrollment: 0
• Participant gender: All

Summary

In the study the investigators plan to include 100 early affected HD patients (5 ≤ UHDRS ≤ 40) in a randomized, double-blind, controlled study in 2 centers (France and the Netherlands). Patients will receive either triheptanoin at 1g/kg of body weight per day (n = 50), or a control oil (n = 50) at 1g/kg of body weight per day for 6 months followed by an open label phase using triheptanoin for another 6 months. Efficacy of triheptanoin will be evaluated by measurements of caudate volume using volumetric magnetic resonance imaging and brain energy metabolism as evaluated by the ratio of inorganic phosphate/phosphocreatine, during visual stimulation, using 31P-MRS. Clinical improvement will be evaluated by UHDRS, TFC, and PBA-S scores as well as performance on the neuropsychological battery; patient quality of life will be evaluated with qualitative research methods after 6 months and with the SF-36 questionnaire before and after treatment; biological tolerance and compliance will be evaluated by routine biochemical blood tests, plasma and urine measurements of triheptanoin oil derivatives and patient report.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Institut National de la Santé Et de la Recherche Médicale, France
• Collaborator: Ultragenyx Pharmaceutical Inc

Criteria

Inclusion Criteria:

• Positive genetic test with CAG repeat length ≥39 in HTT gene

• At least 18 years of age

• Signature of informed consent

• Covered by social security

• UHDRS score between 5 and 40

• Ability to undergo MRI scanning

• BMI between 18 and 30

Exclusion Criteria:

• Hypersensitivity to triheptanoin or to one of its excipients

• Additional major comorbidities

• History of severe head injury

• Participation in another therapeutic trial (3 month exclusion period)

• For women of childbearing age, the absence of two forms of effective contraception (with the exception of those who are abstinent)

• Pregnancy or breastfeeding

• Inability to understand information about the protocol

• Persons deprived of their liberty by judicial or administrative decision

• Adult subject under legal protection or unable to consent

• Treatment with tetrabenazine