None listed
Conditions
Brief 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.
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 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 o
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
Sponsors
St Vincent's Health Network
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Outcome results
None listed