How NOTCH2NLC Gene Variations Relate to NIID Symptoms in a Family
Official title: Effect of NOTCH2NLC Gene Variations on NIID Clinical Features
Run by Sichuan Academy of Medical Sciences · NCT07670169 · Data updated 2026-11-12
This study tests how different NOTCH2NLC gene repeat lengths and patterns relate to NIID symptoms in a single family.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 12 (estimated) |
| Sponsor | Sichuan Academy of Medical Sciences Academic / other |
| Locations | 1 site (Chengdu, Sichuan) |
| Status | Recruiting |
| Started | April 1, 2026 |
| Main results expected | December 31, 2028 |
| Study ends | February 1, 2029 |
| Registry record updated | June 26, 2026 |
| Trial ID | NCT07670169 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are adults 18–85 from a single family with NOTCH2NLC-related NIID, including clinically diagnosed patients, asymptomatic carriers, and healthy relatives.
✕Probably not a fit
Some participants may not experience direct personal benefit, as this is an observational genetic study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Researchers will observe members of one family who have or carry a NOTCH2NLC GGC repeat expansion to see how genetic differences relate to NIID features. The study collects genetic data and a small skin biopsy to compare symptoms among affected individuals, carriers, and healthy relatives. It does not involve an intervention and follows participants over time to map genotype to clinical presentation. The goal is to better understand why NIID varies in severity and type within the same family.
Why it matters
Potential benefit: If successful, findings could help explain symptom variability in NIID and guide future research on targeted testing or prognosis.
How similar studies have gone: Previous work has linked NOTCH2NLC repeat characteristics to NIID features, but this specific family-based observational approach is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Member of a single family (pedigree) with known NOTCH2NLC-related neuronal intranuclear inclusion disease (NIID), including clinically diagnosed patients, asymptomatic GGC repeat expansion carriers, and healthy relatives without the expansion. * Age 18 to 85 years at the time of enrollment. * Able and willing to undergo genetic testing for NOTCH2NLC (including long-read sequencing) and a skin punch biopsy. * Able to provide written informed consent. Exclusion Criteria: * Unstable vital signs or any acute medical condition that would interfere with study participation. * Any condition that, in the opinion of the investigator, makes the participant unsuitable for the study.
Where it's running
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Qingyang District
Chengdu, Sichuan, China Recruiting
Study contacts
- Study coordinator: Xian Wang, Principal Investigator
- Email: wangxian_2022@uestc.edu.cn
- Phone: +86-13269087917
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.