EPI-743 for Mitochondrial Respiratory Chain Diseases

NCT01370447 | Unknown

• 1 other identifier: EPI-2009-1
• Study Type: expanded_access
• Target: N/A
• Locations: 1 country
• Sites: 16

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.

Conditions

Mitochondrial Diseases

Keywords

Leigh syndrome; MELAS; Kearns-Sayre; Alper's; Inherited mitochondrial disease; Friedreich's ataxia; POLG1 deficiency

Interventions

EPI-743 DRUG

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.

Also known as: Vincerinone, Vatiquinone

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Participants with genetic diagnosis: Genetically confirmed diagnosis of Inherited mitochondrial respiratory chain disease
• 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
• Deemed by principal investigator to be within 90 days of end-of-life hospice/terminal care
• Male or female age \> one year
• Hematocrit within normal range for age group
• Agreement to use contraception if within reproductive years
• Participant or participant's guardian able to consent and comply with protocol requirements
• Presence of caregiver to ensure study compliance
• Abstention from use of all pill-form dietary supplements and non-prescribed medications (except as allowed by the investigator)
• Abstention from foods or beverages or bars fortified with Coenzyme Q10, vitamin E, super-fortified "functional" foods or beverages
• Abstention from use of idebenone
• Clinically staged with a Mitochondrial Disease Scale such as the Newcastle Score

You may not qualify if:

• Allergy to EPI-743, vitamin E or sesame oil
• Clinical history of bleeding or abnormal prothrombin time (PT)/partial thromboplastin time (PTT) (excluding anticoagulation Rx)
• Hepatic insufficiency with liver function tests (LFTs) greater than two times normal
• Renal insufficiency requiring dialysis
• Fat malabsorption syndromes precluding drug absorption
• Any other concurrent inborn errors of metabolism
• Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis
• Pregnancy

Sponsors & Collaborators

• PTC Therapeutics: lead

Study Sites (16)

UCLA

Los Angeles, California, 90095, United States

Location

CHOC Children's Clinic

Orange, California, 92868, United States

Location

Lucille Packard Children's Hospital

Palo Alto, California, 94304, United States

Location

UCSD

San Diego, California, 92123, United States

Location

Stanford Children's Health

Stanford, California, 94304, United States

Location

Emory University

Decatur, Georgia, 30033, United States

Location

CUMC (Columbia University)

New York, New York, 10032, United States

Location

Carolinas Medical Center

Charlotte, North Carolina, 28203, United States

Location

Akron Children's Hospital

Akron, Ohio, 44308, United States

Location

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

MUSC

North Charleston, South Carolina, 29406, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

UTH

Houston, Texas, 77030, United States

Location

Naval Hospital, Bremerton

Bremerton, Washington, 98312, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

MeSH Terms

Conditions

Mitochondrial Diseases; Leigh Disease; MELAS Syndrome; Friedreich Ataxia

Interventions

alpha-tocotrienol quinone

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pyruvate Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Mitochondrial Encephalomyopathies; Mitochondrial Myopathies; Muscular Diseases; Musculoskeletal Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Neuromuscular Diseases; Vascular Diseases; Cardiovascular Diseases; Spinocerebellar Degenerations; Cerebellar Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases

Study Officials

• Gregory Enns, MB, ChB

  Stanford University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: expanded access
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 7, 2011
• First Posted: June 10, 2011
• Last Updated: January 23, 2024

Record last verified: 2024-01

Locations

US (16)