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The mechanism study of cumulative effect of TBK1/OPTN gene mutations load leading to motor neuron degeneration in amyotrophic lateral sclerosis

The mechanism study of cumulative effect of TBK1/OPTN gene mutations load leading to motor neuron degeneration in amyotrophic lateral sclerosis

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2500100666
Enrollment
Unknown
Registered
2025-04-14
Start date
2025-02-17
Completion date
Unknown
Last updated
2025-04-21

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

Conditions

Amyotrophic lateral sclerosis

Interventions

Amyotrophic lateral sclerosis:None

Sponsors

Huashan Hospital, Fudan University
Lead Sponsor

Eligibility

Sex/Gender
All
Age
20 Years to 75 Years

Inclusion criteria

Inclusion criteria: 1. Clinical diagnosis based on the revised EL Escorial criteria; 2. 20-75 years old, male or female not limited; 3. Medical history in the past 6 months shows that the disease has progressed; 4. Carrying pathogenic gene mutations; 5. Voluntarily follow and ensure completion of the experimental process; 6. Sign the informed consent form.

Exclusion criteria

Exclusion criteria: 1. Merge with clearly defined mental illnesses; 2. Merge with other neurodegenerative diseases or severe systemic diseases; 3. Merge with tumors or other diseases that may reduce survival expectations (such as liver and kidney function, heart failure, severe infection patients) 4. Merge with pregnant patients; 5. Patients are unable to understand the informed consent form and research objectives;

Design outcomes

Primary

MeasureTime frame
Variants in the disease-causing gene for ALS;Disease phenotypic simulation and mechanisms;

Countries

China

Contacts

Public ContactChen Xiangjun

Huashan Hospital, Fudan University

Xiangjchen@fudan.edu.cn+86 182 2138 2327

Outcome results

None listed

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