Clinical trial NCT01370447: EPI-743 for Mitochondrial Respiratory Chain Diseases
Official title: Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care
Study type: EXPANDED_ACCESS
Overall status: NO_LONGER_AVAILABLE
Conditions: Mitochondrial Diseases
Keywords: Leigh syndrome
MELAS
Kearns-Sayre
Alper's
Inherited mitochondrial disease
Friedreich's ataxia
POLG1 deficiency
Lead sponsor: PTC Therapeutics
Sponsor class: INDUSTRY
First posted: 2011-06-10
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no

Brief summary: This study will evaluate the safety and efficacy of EPI-743 in participants with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.


Eligibility criteria: Inclusion criteria:

1. Participants with genetic diagnosis: Genetically confirmed diagnosis of Inherited mitochondrial respiratory chain disease
2. Participants with clinical diagnosis: Diagnosis of inherited mitochondrial disease absent genetic confirmation; Specifically, participants 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. Participant or participant'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 prothrombin time (PT)/partial thromboplastin time (PTT) (excluding anticoagulation Rx)
3. Hepatic insufficiency with liver function tests (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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: UCLA
state: California
city: Orange
country: United States
facility: CHOC Children's Clinic
state: California
city: Palo Alto
country: United States
facility: Lucille Packard Children's Hospital
state: California
city: San Diego
country: United States
facility: UCSD
state: California
city: Stanford
country: United States
facility: Stanford Children's Health
state: California
city: Decatur
country: United States
facility: Emory University
state: Georgia
city: New York
country: United States
facility: CUMC (Columbia University)
state: New York
city: Charlotte
country: United States
facility: Carolinas Medical Center
state: North Carolina
city: Akron
country: United States
facility: Akron Children's Hospital
state: Ohio
city: Cleveland
country: United States
facility: Cleveland Clinic
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: North Charleston
country: United States
facility: MUSC
state: South Carolina
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Houston
country: United States
facility: UTH
state: Texas
city: Bremerton
country: United States
facility: Naval Hospital, Bremerton
state: Washington
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
Study officials:
affiliation: Stanford University
name: Gregory Enns, MB, ChB
role: PRINCIPAL_INVESTIGATOR
References: