Family study aims to unlock secrets of rare genetic brain disorder
NCT ID NCT07670169
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at how differences in the NOTCH2NLC gene affect the symptoms and course of neuronal intranuclear inclusion disease (NIID), a rare inherited brain disorder. Researchers will follow 12 members of one family, including those with NIID, gene carriers without symptoms, and healthy relatives, for two years. Participants undergo genetic testing, skin biopsy, brain scans, and regular check-ups, but no experimental treatment is given. The goal is to better understand the link between gene variations and disease severity.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this study could help doctors predict how NIID will progress based on a person's specific gene change, and may guide future research into treatments.
- What could go wrong
- This is a very small, early-stage observational study with only 12 people from one family. Results may not apply to others with NIID, and no treatment is being tested.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Qingyang District
RECRUITINGChengdu, Sichuan, 610072, China