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Trial registered on ANZCTR


Registration number
ACTRN12624000381583
Ethics application status
Approved
Date submitted
8/02/2024
Date registered
2/04/2024
Date last updated
8/09/2024
Date data sharing statement initially provided
2/04/2024
Type of registration
Prospectively registered

Titles & IDs
Public title
Characterising and Tracking of Patients with Inherited Neurodegenerative Disorders (INDD)
Scientific title
A longitudinal natural history study characterising and tracking of patients with Inherited Neurodegenerative Disorders (INDD)
Secondary ID [1] 311488 0
Nil known
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Inherited Neurodegenerative Disorders 332816 0
Condition category
Condition code
Human Genetics and Inherited Disorders 329532 329532 0 0
Other human genetics and inherited disorders
Neurological 329743 329743 0 0
Other neurological disorders

Intervention/exposure
Study type
Observational
Patient registry
False
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
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
Intervention code [1] 327947 0
Not applicable
Comparator / control treatment
The healthy cohort are a spouse or friend aged 18 years or over, of consenting patient participants who have capacity to personally consent, understands spoken or written English, has ability to travel to research site and is computer literate and has access to a computer/tablet/smart phone. The observational assessments on the healthy cohort include: 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
Control group
Active

Outcomes
Primary outcome [1] 337339 0
Patients global impression of change
Timepoint [1] 337339 0
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
Primary outcome [2] 337726 0
Patient reported outcome measure
Timepoint [2] 337726 0
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
Primary outcome [3] 337727 0
Assessment of quality of life
Timepoint [3] 337727 0
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
Secondary outcome [1] 432430 0
Composite autonomic symptom - Primary Outcome
Timepoint [1] 432430 0
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
Secondary outcome [2] 432976 0
Presence of cough - Primary Outcome
Timepoint [2] 432976 0
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
Secondary outcome [3] 432977 0
Assessment of disease stage - Primary Outcome
Timepoint [3] 432977 0
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
Secondary outcome [4] 432979 0
Activities of daily living - Primary Outcome
Timepoint [4] 432979 0
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
Secondary outcome [5] 432981 0
Ataxia rating
Timepoint [5] 432981 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [6] 432982 0
Postural blood pressure
Timepoint [6] 432982 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [7] 432983 0
Cerebellar cognition
Timepoint [7] 432983 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [8] 432984 0
Premorbid functioning
Timepoint [8] 432984 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [9] 432985 0
Executive function
Timepoint [9] 432985 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [10] 432986 0
Flexibility
Timepoint [10] 432986 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [11] 432987 0
Digit span
Timepoint [11] 432987 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [12] 432988 0
Visuospatial perception
Timepoint [12] 432988 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [13] 432989 0
Spatial memory
Timepoint [13] 432989 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [14] 432990 0
Information processing speed
Timepoint [14] 432990 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [15] 432991 0
Cognition
Timepoint [15] 432991 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [16] 432992 0
Dysphagia
Timepoint [16] 432992 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [17] 432993 0
Cough
Timepoint [17] 432993 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [18] 432995 0
Chronic cough
Timepoint [18] 432995 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [19] 432997 0
Peripheral nerve response
Timepoint [19] 432997 0
Baseline, then yearly onwards until the participant has impaired capacity to personally provided informed consent at interim study visits or withdraws from study
Secondary outcome [20] 433417 0
Psychomotor function
Timepoint [20] 433417 0
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
Secondary outcome [21] 433418 0
Speech assessment
Timepoint [21] 433418 0
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

Eligibility
Key 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
Minimum age
18 Years
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria
None

Study design
Purpose
Natural history
Duration
Longitudinal
Selection
Defined population
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Date of first participant enrolment
Anticipated
1/05/2024
Actual
28/08/2024
Date of last participant enrolment
Anticipated
1/02/2029
Actual
Date of last data collection
Anticipated
1/02/2033
Actual
Sample size
Target
100
Accrual to date
1
Final
Recruitment in Australia
Recruitment state(s)
NSW

Funding & Sponsors
Funding source category [1] 315775 0
Self funded/Unfunded
Name [1] 315775 0
Country [1] 315775 0
Primary sponsor type
Hospital
Name
St Vincent's Health Network
Address
Country
Australia
Secondary sponsor category [1] 317916 0
None
Name [1] 317916 0
Address [1] 317916 0
Country [1] 317916 0

Ethics approval
Ethics application status
Approved
Ethics committee name [1] 314635 0
St Vincent’s Hospital Human Research Ethics Committee
Ethics committee address [1] 314635 0
https://svhs.org.au/home/research-education/research-office
Ethics committee country [1] 314635 0
Australia
Date submitted for ethics approval [1] 314635 0
23/06/2023
Approval date [1] 314635 0
30/08/2023
Ethics approval number [1] 314635 0

Summary
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.
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 132234 0
A/Prof Kathy Wu
Address 132234 0
Clinical Genomics | Translational Research Centre 97-105 Boundary Street DARLINGHURST NSW 2010
Country 132234 0
Australia
Phone 132234 0
+61283824899
Fax 132234 0
Email 132234 0
[email protected]
Contact person for public queries
Name 132235 0
Kathy Wu
Address 132235 0
Clinical Genomics, Translational Research Centre 97-105 Boundary Street DARLINGHURST NSW 2010
Country 132235 0
Australia
Phone 132235 0
+61283824899
Fax 132235 0
Email 132235 0
[email protected]
Contact person for scientific queries
Name 132236 0
Kathy Wu
Address 132236 0
Clinical Genomics | Translational Research Centre 97-105 Boundary Street DARLINGHURST NSW 2010
Country 132236 0
Australia
Phone 132236 0
+61283824899
Fax 132236 0
Email 132236 0
[email protected]

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
Yes
What data in particular will be shared?
All analysed de-identified data generated
When will data be available (start and end dates)?
IPD will be able to be requested from one year post commencement of study with no end date determined
Available to whom?
To other researchers with a sound proposal only
Available for what types of analyses?
Only to achieve the aims in the study protocol
How or where can data be obtained?
Upon reasonable request data can be obtained from A/Prof Kathy Wu @ [email protected]
Ph 02 8382 4899


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

Documents added manually
No documents have been uploaded by study researchers.

Documents added automatically
No additional documents have been identified.