Clinical Research Directory

Telerehabilitation for Core Stability and Strength in Hereditary Ataxia

This is a two-arm, controlled clinical trial with a parallel design. Participants will be randomly assigned to an intervention or control group. The study is single-blind, as outcome assessors will be blinded to group allocation, while participants and physiotherapists cannot be blinded due to the nature of the intervention. Consecutive sampling will be applied. For the evaluation of intervention effects (primary and secondary outcomes), the study will follow the Consolidated Standards of Reporting Trials (CONSORT) for non-pharmacological interventions. For the assessment of satisfaction and adherence, a qualitative study will be conducted following the COREQ EQUATOR 17 guidelines to ensure methodological rigor. The intervention will consist of a 12-week home-based exercise program supervised via mixed telerehabilitation (TR). The control group will perform the same program but receive only telephone follow-up. Four assessments will be conducted: baseline (T0), post-intervention (T1), three months follow-up (T2), and six months follow-up (T3).

Hereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta

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.