Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases

NCT04529252 | Active Not Recruiting

• 1 other identifier: 16-009414
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Spinocerebellar Ataxias; Cerebellar Ataxia; Nucleotide Repeat Disease

Outcome Measures

Primary Outcomes (1)

• Development of repository

  Specimen sample collection to create a repository for genetic neurodegenerative forms of spinocerebellar ataxia and nucleotide repeat diseases not including Huntington's disease

  10 years

Study Arms (2)

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.

Other: Specimen collection

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: Specimen collection

Interventions

Specimen collection OTHER

Blood, urine, stool, cerebrospinal fluid, and skin biopsy may be collected

Control Group; Spinocerebellar Ataxia and Other Nucleotide Repeat Diseases

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will be identified through investigator's clinical practice and their relatives, health fairs, as well as support groups. Controls will be recruited from clinical practice (spouses and caregivers), support groups, and interested volunteers.

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic in Florida

Jacksonville, Florida, 32224, United States

Location

Related Links

• Mayo Clinic Clinical Trials

Biospecimen

Retention: SAMPLES WITH DNA

* Blood draw, we will be collecting up to 100mL (about 7 tablespoons) during the visit. * Urine, up to 20 mL of urine will be collected upon proper consent. * Stool sample can be collected upon consent. * Up to 25 ml (about 5 teaspoons) of CSF will be obtained. * Skin biopsy will be obtained using 3 mm skin punch. We will only collect one sample on the patient, but would like to collect an additional skin biopsy on research subjects if the sample is not viable due to technical issues (possible contamination) or because of lack of growth of fibroblasts or there is a need to obtain another sample in the future to assess the progression of the disease.

MeSH Terms

Conditions

Spinocerebellar Ataxias; Cerebellar Ataxia

Interventions

Specimen Handling

Condition Hierarchy (Ancestors)

Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Ataxia; Dyskinesias; Neurologic Manifestations; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• Zbigniew K Wszolek, MD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: August 24, 2020
• First Posted: August 27, 2020
• Study Start: July 17, 2017
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: March 24, 2026

Record last verified: 2026-03

Locations

US (1)