Trial Review

Registering a new trial?

To achieve prospective registration, we recommend submitting your trial for registration at the same time as ethics submission.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this information for consumers
Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT04529252




Registration number
NCT04529252
Ethics application status
Date submitted
24/08/2020
Date registered
27/08/2020
Date last updated
1/10/2024

Titles & IDs
Public title
Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases
Scientific title
Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases
Secondary ID [1] 0 0
16-009414
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Spinocerebellar Ataxias 0 0
Cerebellar Ataxia 0 0
Nucleotide Repeat Disease 0 0
Condition category
Condition code
Neurological 0 0 0 0
Other neurological disorders
Neurological 0 0 0 0
Neurodegenerative diseases
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders

Intervention/exposure
Study type
Observational [Patient Registry]
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Other interventions - Specimen collection

Spinocerebellar Ataxia and Other Nucleotide Repeat Diseases - Participants with a clinical diagnosis of spinocerebellar ataxia and other nucleotide repeat diseases (not including Huntington's Disease) with or without a genetic mutation and unaffected family members (grandparents, parents, brothers, sisters, cousins, uncles and aunts) who may or may not carry a genetic mutation for the disease.

Control Group - Participants with no known medical or family history of inherited neurodegenerative forms of spinocerebellar ataxia or nucleotide repeat diseases (not including Huntington's Disease) and spouses or caregivers of patients with spinocerebellar ataxia and nucleotide repeat diseases (not including Huntington's Disease) will serve as controls in the study.


Other interventions: Specimen collection
Blood, urine, stool, cerebrospinal fluid, and skin biopsy may be collected
Intervention code [1] 0 0
Other interventions
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Development of repository
Timepoint [1] 0 0
10 years

Eligibility
Key inclusion criteria
* Males and females over the age of 18 years
* We acknowledge that some participants may be unable to consent due to underlying medical conditions; an eligible proxy may provide the informed consent and provide a signature on the designated line.
* Participants with a clinical diagnosis of spinocerebellar ataxia and other nucleotide repeat diseases (not including Huntington's Disease) with or without a genetic mutation and unaffected family members (grandparents, parents, brothers, sisters, cousins, uncles and aunts) who may or may not carry a genetic mutation for the disease.
* Patients with genetic neurodegenerative form of spinocerebellar ataxia and other nucleotide repeat diseases excluding Huntington's Disease who do not have a known family history of genetic neurodegenerative spinocerebellar ataxia.
* Women of childbearing age will be included as they will not be exposed to any harmful substances nor any forms of treatment while in this study.
* Males and females over 18 years of age with no known medical or family history of inherited neurodegenerative forms of spinocerebellar ataxia or nucleotide repeat diseases (not including Huntington's Disease) will be enrolled as controls.
* Spouses and caregivers of patients with spinocerebellar ataxia and nucleotide repeat diseases (not including Huntington's Disease) may serve as controls in the study.

Controls will also be participants interested in the study after having viewed the advertisement displayed here at Mayo Clinic Florida or heard about the study by word of mouth.
Minimum age
18 Years
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria
* Patients that do not want to participate by either checking no on the contact letter or refusing over the phone. This will be recorded in the Progeny system and patients will not be contacted again.
* Allergy to study-related materials including lidocaine or iodine. We will make all efforts to utilize alternative means when obtaining specimens (i.e. using rubbing alcohol and obtaining blood samples instead of skin biopsies).
* Potential subjects will not be excluded based on being minorities.
* Pregnant subjects will not be included in the study.
* We propose to include 1000 subjects in our repository (500 affected plus unaffected and 500 controls patients).

Study design
Purpose
Duration
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
17/07/2017
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/12/2026
Actual
Sample size
Target
1000
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Florida

Funding & Sponsors
Primary sponsor type
Other
Name
Mayo Clinic
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
The purpose of this study is to create a repository for cerebellar ataxia and nucleotide repeat diseases in order to fully investigate the genetic and phenotypic presentations of both.
Trial website
https://clinicaltrials.gov/study/NCT04529252
Trial related presentations / publications
Public notes
This record is viewable in the ANZCTR as it had previously listed Australia and/or New Zealand as a recruitment site, however these sites have since been removed

Contacts
Principal investigator
Name 0 0
Zbigniew K Wszolek, MD
Address 0 0
Mayo Clinic
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Zoe Parrales
Address 0 0
Country 0 0
Phone 0 0
(904) 953-3381
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT04529252