Trial Search Results

EPI-743 for Mitochondrial Respiratory Chain Diseases

This study evaluates the safety and efficacy of EPI-743 in patients with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.

Stanford is currently not accepting patients for this trial.

Lead Sponsor:

Edison Pharmaceuticals Inc

Stanford Investigator(s):

Intervention(s):

  • Drug: EPI-743

Phase:

Phase 2

Eligibility


Inclusion criteria:

   1. Patients with genetic diagnosis: Genetically confirmed diagnosis of Inherited
   mitochondrial respiratory chain disease

   2. Patients with clinical diagnosis: Diagnosis of inherited mitochondrial disease absent
   genetic confirmation; Specifically, subjects must meet the diagnostic criteria of
   "definite" or "probable" mitochondrial disease as defined by Bernier et al., 2002

   3. Deemed by principal investigator to be within 90 days of end-of-life hospice/terminal
   care

   4. Male or female age > one year

   5. Hematocrit within normal range for age group

   6. Agreement to use contraception if within reproductive years

   7. Patient or patient's guardian able to consent and comply with protocol requirements

   8. Presence of caregiver to ensure study compliance

   9. Abstention from use of all pill-form dietary supplements and non-prescribed
   medications (except as allowed by the investigator)

10. Abstention from foods or beverages or bars fortified with Coenzyme Q10, vitamin E,
   super-fortified "functional" foods or beverages

11. Abstention from use of idebenone

12. Clinically staged with a Mitochondrial Disease Scale such as the Newcastle Score

Exclusion criteria:

   1. Allergy to EPI-743, vitamin E or sesame oil

   2. Clinical history of bleeding or abnormal PT/PTT (excluding anticoagulation Rx)

   3. Hepatic insufficiency with LFTs greater than two times normal

   4. Renal insufficiency requiring dialysis

   5. Fat malabsorption syndromes precluding drug absorption

   6. Any other concurrent inborn errors of metabolism

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

   8. Pregnancy

Ages Eligible for Study

1 Year - N/A

Genders Eligible for Study

All

Not currently accepting new patients for this trial

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Greg Enns, MD
(650) 498-5798
Not Recruiting