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Multicenter, standardized registration and nature history study for mitochondrial disorders patients

Whole China multicenter mitochondrial patient registry and natural history study

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR1900028101
Enrollment
Unknown
Registered
2019-12-11
Start date
2020-01-01
Completion date
Unknown
Last updated
2019-12-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

mitochondrial disorders

Interventions

Case series: Nil

Sponsors

Beijing Children's Hospital, Capital Medical University
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: The parents fully understand this study and sign the informed consent,and meets any of the following criteria: 1. Suspected patients with mitochondrial diseases according to the mitochondrial disease diagnosis score (MDC) developed by witters in 2018; 2. Diagnosed as mitochondrial diseases according to histopathology; 3. Diagnosed as mitochondrial diseases according to respiratory enzyme detection; 4. Diagnosed as mitochondrial diseases according to gene; 5. Asymptomatic carriers of mitochondrial gene mutations.

Exclusion criteria

Exclusion criteria: 1. Diagnosed complicated with other diseases.

Design outcomes

Primary

MeasureTime frame
Natural history;Clinical phenotype;Genotype;—

Secondary

MeasureTime frame
Survival time;Laboratory markers;—

Countries

China

Contacts

Public ContactFang Fang

Beijing Children's Hospital, Capital Medical University

13910150389@163.com+86 13370115051

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026