Tissue Sample Study for Mitochondrial Disorders

Conditions

• Kearns Sayer
• LHON
• Leigh's Disease
• MNGIE
• Melas
• Mitochondrial Depletion Syndrome
• Mitochondrial Disease
• Mitochondrial Disorders
• NARP

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Accepted

Study Details

The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA). Most patients with suspected or known mitochondrial diseases have no genetic confirmation. The investigators expect that evaluating tissue samples from patients with mitochondrial disorders will lead us to discover mutations in new or known genes causing mitochondrial dysfunction.

Key Dates

Start date

Feb 29, 2012

Status verified

Jan 2026

Primary completion

Dec 31, 2026

Completion

Dec 31, 2026

Study Design

Enrollment

6,900 participants (estimated)

Arms

• Arm: Mitochondrial disease
  Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders

Primary Outcome Measure

Number of patients with reduced respiratory chain enzyme levels [ Time Frame: Up to 2 years ]

Locations (1)

Find similar trials in New York, NY

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