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

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
View:

• 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.

Locations
United States
Florida
Mayo Clinic in Florida
RECRUITING
Jacksonville
Contact Information
Primary
Zoe Parrales
parrales.zoe@mayo.edu
(904) 953-3381
Backup
Audrey Strongosky
strongosky.audrey2@mayo.edu
(904) 953-7229
Time Frame
Start Date: 2017-07-17
Estimated Completion Date: 2026-12
Participants
Target number of participants: 1000
Treatments
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.
Sponsors
Leads: Mayo Clinic

This content was sourced from clinicaltrials.gov