Clinical Trial: Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of Childhood

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

Official Title: "Etude Pilote, Comparative, Monocentrique, randomisée, en Cross Over, en Double Aveugle, Contre Placebo, Testant l'efficacité de l'Huile triheptanoïne Dans Les Hémiplégie

Brief Summary: 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.

Detailed Summary:

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.


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

Current Primary Outcome: Number of neurologic paroxystic events report in patient diary [ Time Frame: 7 months ]

visit 1 at day 0, visit 2 at week 12, visit 3 at week 16, visit 4 at week 28


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Composite score allying the number of neurological paroxystic events, their duration and severity. [ Time Frame: 7 months ]
    visit 1 at day 0, visit 2 at week 12, visit 3 at week 16, visit 4 at week 28
  • Clinical Global Impression Scales - Improvement [ Time Frame: 7 months ]
    visit 2 at week 12, visit 4 at week 28
  • The Short Form (36) Health Survey [ Time Frame: 7 months ]
    visit 1 at day 0, visit 2 at week 12, visit 3 at week 16, visit 4 at week 28
  • Brain 31phosphorus magnetic resonance spectroscopy [ Time Frame: 7 months ]
    Ratio of Inorganic Phosphate (Pi) over Phosphocreatine during visual stimulation visit 2 at week 12, visit 4 at week 28
  • Clinical Safety as measured by questionnaire [ Time Frame: 7 months ]
    visit 2 at week 12, visit 4 at week 28
  • Biological Safety as measured by acylcarnitine profile, organic acid dosage [ Time Frame: 7 months ]
    visit 2 at week 12, visit 4 at week 28


Original Secondary Outcome: Same as current

Information By: Institut National de la Santé Et de la Recherche Médicale, France

Dates:
Date Received: March 24, 2015
Date Started: March 2015
Date Completion: December 2017
Last Updated: March 6, 2017
Last Verified: March 2017