Ignite Creation Date:
2025-12-25 @ 12:19 AM
Ignite Modification Date:
2026-01-04 @ 6:14 AM
Study NCT ID:
NCT07092358
Status:
RECRUITING
Last Update Posted:
2025-07-29
First Post:
2025-07-13
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta
Sponsor:
Second Affiliated Hospital, School of Medicine, Zhejiang University
Organization:
Study Overview
Official Title:
Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta
Status:
RECRUITING
Status Verified Date:
2025-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
HARMONY
Brief Summary:
The goal of this observational study is to explore the clinical and genetic characteristics, multi-omics profiles, disease mechanisms, biomarkers, and potential therapeutic targets of hereditary ataxia (HA) in patients diagnosed with HA, primarily in the Yangtze River Delta region of China. The main questions it aims to answer are:
* What are the key pathogenic genetic variants, modifying factors and special inheritance patterns underlying HA?
* How do multi-omics profiles correlate with clinical phenotypes, disease progress and mechanism in HA patients?
* What are the implications of these findings for clinical practice?
Participants will:
* Undergo retrospective and prospective clinical data collection through long-term follow-up to observe disease onset, progression, and outcomes.
* Provide biological samples (e.g., blood, skin) to establish a biobank for multi-omics analyses.
* Be characterized using multidimensional omics technologies to identify disease-related molecular signatures, progression mechanisms, and potential regulatory targets.
* What are the key pathogenic genetic variants, modifying factors and special inheritance patterns underlying HA?
* How do multi-omics profiles correlate with clinical phenotypes, disease progress and mechanism in HA patients?
* What are the implications of these findings for clinical practice?
Participants will:
* Undergo retrospective and prospective clinical data collection through long-term follow-up to observe disease onset, progression, and outcomes.
* Provide biological samples (e.g., blood, skin) to establish a biobank for multi-omics analyses.
* Be characterized using multidimensional omics technologies to identify disease-related molecular signatures, progression mechanisms, and potential regulatory targets.
Detailed Description:
This project aims to establish a representative and continuously expanding cohort of hereditary ataxia in the Yangtze River Delta region of China. By integrating both retrospective and prospective study designs, the investigators will implement a observational ambispective cohort approach to comprehensively capture the natural history of the disease - including its onset, progression, and clinical outcomes - through systematic data collection from historical records and long-term follow-up of enrolled cases. In parallel, a biobank will be established by collecting biospecimens such as blood and skin samples from participants, providing high-quality biological materials for future research. Utilizing multi-omics technologies, including genomics, transcriptomics, epigenomics, etc., the investigators will explore key pathogenic genetic variants, disease-modifying factors, mechanisms underlying disease progression, biomarkers, and potential therapeutic targets. Through this integrated approach, the project is expected to significantly advance basic and translational research on hereditary ataxia, ultimately contributing to the development of precision diagnosis and effective intervention strategies for these debilitating neurodegenerative disorders.
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: