RECRUITING

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

Conditions

Spinocerebellar Ataxias Cerebellar Ataxia Nucleotide Repeat Disease

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2017-07-17

Study Completion:2026-12

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT04529252

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:18 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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.	* 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).

Inclusion Criteria

Exclusion 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.

* 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).

Contacts and Locations

Study Contact

Zoe Parrales

CONTACT

(904) 953-3381

parrales.zoe@mayo.edu

Audrey Strongosky

CONTACT

(904) 953-7229

strongosky.audrey2@mayo.edu

Principal Investigator

Zbigniew K Wszolek, MD

PRINCIPAL_INVESTIGATOR

Mayo Clinic

Study Locations (Sites)

Mayo Clinic in Florida

Jacksonville, Florida, 32224

United States

Collaborators and Investigators

Sponsor: Mayo Clinic

Zbigniew K Wszolek, MD, PRINCIPAL_INVESTIGATOR, Mayo Clinic

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2017-07-17

Study Completion Date2026-12

Study Record Updates

Study Start Date2017-07-17

Study Completion Date2026-12

Terms related to this study

Additional Relevant MeSH Terms

Spinocerebellar Ataxias
Cerebellar Ataxia
Nucleotide Repeat Disease