EPI-743 for Mitochondrial Respiratory Chain Diseases

NCT ID: NCT01370447

Last Updated: 2024-01-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NO_LONGER_AVAILABLE

Study Classification

EXPANDED_ACCESS

Brief Summary

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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.

Detailed Description

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Conditions

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Mitochondrial Diseases

Interventions

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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.

Intervention Type DRUG

Other Intervention Names

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Vincerinone, Vatiquinone

Eligibility Criteria

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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
Minimum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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PTC Therapeutics

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Gregory Enns, MB, ChB

Role: PRINCIPAL_INVESTIGATOR

Stanford University

Locations

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UCLA

Los Angeles, California, United States

Site Status

CHOC Children's Clinic

Orange, California, United States

Site Status

Lucille Packard Children's Hospital

Palo Alto, California, United States

Site Status

UCSD

San Diego, California, United States

Site Status

Stanford Children's Health

Stanford, California, United States

Site Status

Emory University

Decatur, Georgia, United States

Site Status

CUMC (Columbia University)

New York, New York, United States

Site Status

Carolinas Medical Center

Charlotte, North Carolina, United States

Site Status

Akron Children's Hospital

Akron, Ohio, United States

Site Status

Cleveland Clinic

Cleveland, Ohio, United States

Site Status

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status

MUSC

North Charleston, South Carolina, United States

Site Status

Baylor College of Medicine

Houston, Texas, United States

Site Status

UTH

Houston, Texas, United States

Site Status

Naval Hospital, Bremerton

Bremerton, Washington, United States

Site Status

Seattle Children's Hospital

Seattle, Washington, United States

Site Status

Countries

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United States

Other Identifiers

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EPI-2009-1

Identifier Type: -

Identifier Source: org_study_id

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