RecruitingACTRN12624000381583

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

A longitudinal natural history study characterising and tracking of patients with Inherited Neurodegenerative Disorders (INDD)

Sponsor

St Vincent's Health Network

Enrollment

100 participants

Start Date

Aug 28, 2024

Study Type

Observational

Conditions

Inherited Neurodegenerative Disorders

Summary

This project seeks to undertake a prospective longitudinal natural history study to generate a comprehensive phenotypic profile of biological, behavioural, clinical, neurocognitive and neurophysiological markers associated with INDD and its progression; and correlate with the genotype when clinically available. This work will provide more complete neurobiological descriptions, novel mechanistic insights, and clear recommendations regarding candidate biomarkers for diagnosis and treatment tracking.

Eligibility

Sex: Both males and femalesMin Age: 18 Yearss

Plain Language Summary

Simplified for easier understanding

This long-term study at St Vincent's Health Network is following people with inherited neurodegenerative disorders (INDD) — conditions passed down through families that cause the nervous system to gradually deteriorate over time. Examples include Huntington's disease, familial Parkinson's disease, and inherited forms of motor neurone disease. The goal is to build a comprehensive picture of how these conditions progress by tracking biological, brain, cognitive, and behavioural changes over time. By collecting detailed information from a wide range of participants — including those who carry a genetic variant but don't yet show symptoms — researchers hope to identify early warning signs and potential markers that could one day be used to test new treatments. You may be eligible if you are 18 or older and have either a clinical diagnosis of an INDD or a positive genetic test result for one of these conditions, even if you're not yet experiencing symptoms. There are no exclusion criteria. Healthy volunteers (such as a spouse or friend of a participant) may also be invited to take part as a comparison group.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

Neurodegenerative disorders cause a collapse of the structure and function of neural networks. In this study sensory, motor, autonomic and cognitive functions are observed. The non-invasive neurologi

Neurodegenerative disorders cause a collapse of the structure and function of neural networks. In this study sensory, motor, autonomic and cognitive functions are observed. The non-invasive neurological (gait and balance assessments), cognitive (tests for processing speed, attention and working memory), swallowing (a clinical assessment of dysphagia) vestibular (assessment of inner ear balance by observing eye movements) and Nerve Excitability Study (tests conductivity and electrical activity of the nerves) will be administered by suitably trained members of the research team. Observation occurs at Baseline, 3 months, 6 months and 12 months in Year 1, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study. Neurological, cognitive, swallowing and vestibular assessments and a nerve excitability study will take approximately 4 hours (with breaks) on site at St Vincent's Hospital at baseline and yearly afterwards." and "Questionnaires, psychomotor and speech assessments using web based tools will take approximately 45 mins at participants home

Locations(1)

NSW, Australia

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ACTRN12624000381583