Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of Childhood (HEMIHEP)

Institut National de la Santé Et de la Recherche Médicale, France

Status and phase: Completed; Phase 2

Conditions: Alternating Hemiplegia of Childhood

Treatments: Drug: Triheptanoin; Drug: Placebo

Study type: Interventional

Funder types: Other

Identifiers

NCT02408354

C14-53

Details and patient eligibility

About

The purpose of this project is to study the efficacy of triheptanoin oil in patients with Alternating Hemiplegia of Childhood (AHC) due to ATP1A3 gene mutation.

Full description

The clinical spectrum of Alternating Hemiplegia of Childhood (AHC) is wide and characterized by the association of permanent and paroxysmal (palsy, dystonia, ocular, epileptic, dysautonomic events) neurological events, with onset in childhood. Most of AHC patients carry mutations in the ATP1A3 gene. This gene encodes the Na+/K+ ATPase witch is a transmembrane ion pump generating chemical and electrical gradient of sodium and potassium across the plasma membrane. Those paroxystic events in AHC patients with mutations in the ATP1A3 gene could be associated with a glucidic/energetic metabolism or intracerebral excitability disorder.

Triheptanoin is a triglyceride, whose derivatives pass the blood - brain barrier and enhance the Krebs cycle functions. Triheptanoin could therefore allow energy supply to the brain, which is essential for the functioning of the Na+/ K+ ATPase that consumes a significant amount of energy in the brain.

The investigators goal is to do a pilot study to test the effectiveness on paroxystic manifestations and the safety of triheptanoin in a small group of patients with Alternating Hemiplegia of Childhood secondary to ATP1A3 mutations.

Enrollment: 10 patients

Sex: All

Ages: 15+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• AHC with mutation in ATP1A3 gene
• Age ≥ 15 years and 3 months
• ≥ 6 neurological paroxystic events during the last 3 months prior to the beginning of the study
• No specific diet
• Covered by french social security
• Patients who freely agree to participate in this study and understand the nature, risks and benefits of this study and give their written informed consent. (In addition to the requirement for the consent of parents or the legal representative, adolescents can provide additional informed consent to participate in clinical trials)

Exclusion criteria

• Age < 15 years and 3 months
• Evidence of psychiatric disorder
• Comorbid medical condition that would render them unsuitable for the study, e.g. HIV, diabetes
• Pregnant or parturient or lactating women
• Absence of double effective contraception at the women old enough to procreate
• Unwillingness to be informed in case of abnormal MRI
• Absence of signed informed consent
• No covered by french social security
• Persons deprived of their liberty by judicial or administrative decision
• Person subject to an exclusion period for another research
• Subjects with exclusion criteria required by french law

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Crossover Assignment

Masking: Quadruple Blind

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10 participants in 2 patient groups, including a placebo group

Triheptanoin

Active Comparator group

Description:

Triheptanoin/ Placebo Randomized to receive active Triheptanoin first for 12 weeks. At cross-over, participants will receive placebo for 12 weeks. Each drug will be dispensed successively. A one-month wash out period is planned for 4 weeks between triheptanoine and placebo phases.

Treatment:

Drug: Triheptanoin

Placebo

Placebo Comparator group

Description:

Placebo / Triheptanoin Randomized to receive active Placebo first for 12 weeks. At cross-over, participants will receive Triheptanoin for 12 weeks. Each drug will be dispensed successively. A one-month wash out period is planned for 4 weeks between placebo and triheptanoin phases.

Treatment:

Drug: Placebo