Neuronal Intranuclear Inclusion Disease
Conditions
Interventions
Group 1 (Integrated Traditional Chinese and Western Medicine Group):Standard Western Medicine Treatment combined with Jiuwei Xifeng Granules
Group 2 (Western Medicine Control Group):Standard Western Medicine Treatment plus Placebo
Sponsors
The Affiliated Hospital of Xuzhou Medical University
Eligibility
Sex/Gender
All
Age
45 Years to 75 Years
Inclusion criteria
Inclusion criteria: (1) Meeting the international diagnostic consensus for NIID, with the core diagnostic criterion being: positivity for NOTCH2NLC gene GGC repeat expansion (=60 repeats, verified by long-fragment PCR combined with third-generation sequencing). Supportive criteria include: skin/labial gland biopsy showing eosinophilic intranuclear inclusions (positive for ubiquitin/p62), characteristic findings on brain MRI (the "ribbon sign" at the corticomedullary junction), and manifestations of multi-organ system involvement. (2) Complete clinical data: age =18 years, with comprehensive clinical assessment records (including completion of various scale evaluations and multimodal imaging data). (3) The patient and their family members have signed an informed consent form and are able to cooperate with the examination and treatment arrangements throughout the entire study process.
Exclusion criteria
Exclusion criteria: (1) Patients without a confirmed diagnosis of NIID, or those comorbid with other neurodegenerative diseases (e.g., Alzheimer's disease, Parkinson's disease, ALS) or genetic metabolic disorders (e.g., mitochondrial encephalomyopathy, lysosomal storage diseases). (2) Patients with severe cardiac, pulmonary, hepatic, or renal dysfunction, or severe psychiatric disorders (e.g., schizophrenia) that may interfere with efficacy evaluation or increase risks. (3) Patients currently receiving Traditional Chinese Medicine treatments not approved by this study for more than two weeks. (4) Patients with poor compliance (e.g., inability to cooperate with follow-up visits, examinations, or therapeutic guidance), refusal to sign informed consent, or insufficient clinical records leading to missing data. (5) Patients judged by the investigator to have other potential interfering factors (e.g., anticipated inability to complete follow-up, uncontrollable safety risks, etc.).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Motor function:FXTAS-RS; | — |
Secondary
| Measure | Time frame |
|---|---|
| Gait Analysis;ADL;ADAS-cog MMSE MoCA; | — |
Countries
China
Contacts
Public ContactHao Chen
The Affiliated Hospital of Xuzhou Medical University
Outcome results
None listed