EPI-743 for Metabolism or Mitochondrial Disorders

• Register: ClinicalTrials.gov
• Last refreshed on: 12 December 2020
• Main ID: NCT01642056
• Date of registration: 14/07/2012
• Prospective Registration: Yes
• Primary sponsor: National Human Genome Research Institute (NHGRI)
• Public title: EPI-743 for Metabolism or Mitochondrial Disorders
• Scientific title: Therapeutic Trial of EPI -743 In Patients With Disorders of Energy Utilization or Oxidation-Reduction
• Date of first enrolment: September 1, 2012
• Target sample size: 20
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT01642056
• Study type: Interventional
• Study design: Allocation: Non-Randomized. Intervention model: Crossover Assignment. Primary purpose: Treatment. Masking: Double (Participant, Investigator).
• Phase: Phase 1/Phase 2

Countries of recruitment

United States

Contacts

• Name: William A Gahl, M.D.
• Affiliation: National Human Genome Research Institute (NHGRI)

Key inclusion & exclusion criteria

- INCLUSION CRITERIA:

Inclusion criteria involve enrollment in protocol 76-HG-0238, Diagnosis and Treatment of
Patients with Inborn Errors of Metabolism and Other Genetic Disorders . In addition,
patients must:

- Be 2-11 years of age

- Manifest clinical findings of a neuromuscular disease with a component of impaired
energy or oxidation/reduction. Typical symptoms would include hypotonia, dystonia, or
seizures.

- Have a disorder that is untreatable or poorly treatable.

- Have cultured fibroblasts that exhibit reduced viability under conditions of oxidative
stress, compared to age matched control fibroblasts.

- Have cultured fibroblasts that achieve at least 80% viability rescue with EPI-743 at
1micromolar upon exposure to oxidative stress and that have a half maximal effective
concentration of EPI-743 of less than or equal to 50 nanomolar.

- Be willing to abstain from initiating the use of dietary supplements and nonprescribed
medications, foods or beverages or bars fortified with coenzyme Q(10), vitamin E,
super fortified functional foods or beverages, and idebenone.

- Be able to travel to the Clinical Center for at least 8 visits.

EXCLUSION CRITERIA:

- Age < 2 years or >11 years

- Diagnosis of mitochondrial diseases benefiting from treatment and at risk from being
moved to placebo

- Allergy to EPI-743 or sesame oil

- Hepatic insufficiency with liver function tests greater than 3-times the upper limit
of normal

- Renal insufficiency requiring dialysis

- Significant malabsorption of fats precluding drug absorption

- Allergy to vitamin E

- Significant coagulation abnormalities as evidenced by abnormal PT/PTT tests

- Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in
lactic acidosis

- Ventilator-dependence

- Chronic pancreatitis

- Clinical history of bleeding requiring ongoing medical management

- Abnormal red cell parameters requiring ongoing medical management besides iron
supplementation

- A platelet disorder

- Neutrophils less than 500 mm3



Age minimum: 2 Years
Age maximum: 11 Years
Gender: All

Health Condition(s) or Problem(s) studied

Myoptahy

Mitochondrial Disease

Neurology

Intervention(s)

Drug: EPI-743

Drug: Placebo

Primary Outcome(s)

Newcastle Paediatric Mitochondrial Disease Scale [Time Frame: Every 6 months]

Secondary ID(s)

120161

12-HG-0161

Source(s) of Monetary Support

Please refer to primary and secondary sponsors