NCT07670169 Effect of NOTCH2NLC Gene Variations on NIID Clinical Features
| NCT ID | NCT07670169 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Sichuan Academy of Medical Sciences |
| Condition | Neuronal Intranuclear Inclusion Disease (NIID) |
| Study Type | OBSERVATIONAL |
| Enrollment | 12 participants |
| Start Date | 2026-04-01 |
| Primary Completion | 2028-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 12 participants in total. It began in 2026-04-01 with a primary completion date of 2028-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
This study aims to understand how differences in the NOTCH2NLC gene affect the symptoms and course of neuronal intranuclear inclusion disease (NIID), a rare inherited neurological disorder. NIID is caused by an abnormal expansion of a GGC DNA repeat in the NOTCH2NLC gene, but members of the same family can have very different repeat sizes and patterns, leading to a wide variety of problems-such as difficulties with memory, movement, sensation, or involuntary body functions. The main goal is to uncover how these genetic differences (repeat length and interruption pattern) contribute to the severity and type of symptoms. The study is being conducted at Sichuan Provincial People's Hospital and will enroll approximately 12 individuals from a single family, including those diagnosed with NIID, family members who carry the genetic change but are not yet sick, and healthy relatives. Participants must be 18-85 years old, able to complete genetic testing and a small skin biopsy, and willing to provide informed consent. Those who are medically unstable or otherwise unable to participate will not be enrolled. The study has both a retrospective part (collecting past medical records) and a prospective follow-up. At the beginning, all participants will have a physical exam, provide a blood sample (for long-read DNA sequencing and RNA sequencing), and undergo a 3-mm skin biopsy to look for disease-related protein deposits. Brain MRI and nerve/muscle electrical tests will also be performed if not done recently. After this baseline visit, everyone will be followed every 6 months for a total of 2 years (5 visits total). Each follow-up visit includes assessments of thinking, memory, movement, autonomic function, pain, and quality of life, along with a neurological exam and repeat imaging/electrical tests as needed. At the final 24-month visit, another blood sample will be taken for RNA sequencing to see how gene activity changes over time. This is an observational study; there is no experimental treatment. Participants will be compensated a total of ¥3,000 across all visits for their time and travel. All data and samples will stay in China and will not be shared internationally.
Eligibility 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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07670169 clinical trial?
This trial is open to participants of all sexes, studying Neuronal Intranuclear Inclusion Disease (NIID). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07670169 currently recruiting?
Yes, NCT07670169 is actively recruiting participants. Contact the research team at wangxian_2022@uestc.edu.cn for enrollment information.
Where is the NCT07670169 trial being conducted?
This trial is being conducted at Chengdu, China.
Who is sponsoring the NCT07670169 clinical trial?
NCT07670169 is sponsored by Sichuan Academy of Medical Sciences. The trial plans to enroll 12 participants.