Characterising and Tracking of Patients with Inherited Neurodegenerative Disorders (INDD)

Not Applicable

Recruiting

• Conditions: Inherited Neurodegenerative Disorders; Human Genetics and Inherited Disorders - Other human genetics and inherited disorders; Neurological - Other neurological disorders

• Registration Number: ACTRN12624000381583
• Lead Sponsor: St Vincent's Health Network

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2024-04-02
• Last Update Posted: 9 September 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

Patient participants
Adult patients aged greater than or equal to 18 years with a clinical diagnosis of INDD regardless of prior genetic testing results
Adult patients aged greater than or equal to 18 years who are genotype positive but clinically unaffected at time of enrolment
Capacity to personally consent
Understands spoken and written English
Ability to travel to research site
Computer literate and access to a computer/tablet/smart phone

Healthy control participant
A spouse/friend aged greater than or equal to 18 years, of those consenting patient participants who:
Has capacity to personally consent
Understands spoken and written English
Has ability to travel to research site
Computer literate and access to a computer/tablet/smart phone

Exclusion Criteria

None

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Patients global impression of change [Patients Global Impression of Change scale (PGI-C) <br><br> At Baseline, 3 months, 6 months, 12 months at Year 1, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study];Patient reported outcome measure[Patient Reported Outcome Measure of Ataxia (PROM-Ataxia) At Baseline, 3 months, 6 months, 12 months at Year 1, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study];Assessment of quality of life [Assessment of Quality of Life - 8 Dimensions (AQoL-8D) At Baseline, 3 months, 6 months, 12 months at Year 1, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study]