EPI-743 for Mitochondrial Respiratory Chain Diseases

Mitochondrial Diseases Clinical Trial

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

Clinical Trial Details — Status: No longer available

Administrative data

• NCT number: NCT01370447
• Other study ID #: EPI-2009-1
• Status: No longer available

Study information

• Verified date: January 2024
• Source: PTC Therapeutics
• Contact: n/a
• Is FDA regulated: No
• Study type: Expanded Access

Clinical Trial 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.

Recruitment information / eligibility

• Status: No longer available
• Enrollment: 0
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Year and older

Eligibility

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

Related Conditions & MeSH terms

• Mitochondrial Diseases

Intervention

Drug:
• EPI-743
EPI-743 (oral solution [100 mg/mL] or liquid-filled capsules [100 mg or 200 mg]) will be administered per dose and schedule specified in the arm.

Locations

Country	Name	City	State
United States	Akron Children's Hospital	Akron	Ohio
United States	Naval Hospital, Bremerton	Bremerton	Washington
United States	Carolinas Medical Center	Charlotte	North Carolina
United States	Cleveland Clinic	Cleveland	Ohio
United States	Emory University	Decatur	Georgia
United States	Baylor College of Medicine	Houston	Texas
United States	UTH	Houston	Texas
United States	UCLA	Los Angeles	California
United States	CUMC (Columbia University)	New York	New York
United States	MUSC	North Charleston	South Carolina
United States	CHOC Children's Clinic	Orange	California
United States	Lucille Packard Children's Hospital	Palo Alto	California
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	UCSD	San Diego	California
United States	Seattle Children's Hospital	Seattle	Washington
United States	Stanford Children's Health	Stanford	California

Sponsors (1)

Lead Sponsor	Collaborator
PTC Therapeutics

Country where clinical trial is conducted

United States,