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MT-ND3 Gene m.10197G>A Variant Leads to Leigh Syndrome in a Pedigree and Literature Review

MT-ND3 Gene m.10197G>A Variant Leads to Leigh Syndrome in a Pedigree and Literature Review

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2600129043
Enrollment
Unknown
Registered
2026-07-29
Start date
2025-12-01
Completion date
Unknown
Last updated
2026-08-03

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

Conditions

MT-ND3 Gene m.10197G>A Variant Leads to Leigh Syndrome

Interventions

Single-family pedigree:none

Sponsors

Shenzhen Second People's Hospital
Lead Sponsor

Eligibility

Sex/Gender
All
Age
2 Years to 3 Years

Inclusion criteria

Inclusion criteria: 1. From August 2016 to July 2020, treated at the Pediatrics Department of Shenzhen Second People’s Hospital. 2. Diagnosed with Leigh syndrome according to the "Chinese Expert Consensus on Diagnosis and Treatment of Leigh Syndrome (2023)". 3. Genetic testing confirmed the patient carries the MT-ND3 gene m.10197G>A mutation.

Exclusion criteria

Exclusion criteria: 1. Patients with encephalopathy or metabolic diseases caused by non-mitochondrial reasons. 2. Patients whose clinical data is incomplete and cannot be effectively analyzed. 3. Patients who, according to the researcher's judgment, are not suitable to participate in this study.

Design outcomes

Primary

MeasureTime frame
Diagnostic Criteria for Leigh Syndrome & MT-ND3 Mutation;—

Secondary

MeasureTime frame
Blood Lactate & Brain MRI Features;Clinical Data & Literature Review Summary;—

Countries

China

Contacts

Public ContactZhang Jing

The Second People’s Hospital of Shenzhen

594379097@qq.com+86 755 83366388

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Aug 10, 2026