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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04529252
Other study ID # 16-009414
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date July 17, 2017
Est. completion date August 2024

Study information

Verified date September 2023
Source Mayo Clinic
Contact Zoe Parrales
Phone (904) 953-3381
Email parrales.zoe@mayo.edu
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial 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.


Description:

The investigators are initiating a new program dedicated to the research and study of neurodegenerative forms of spinocerebellar ataxia as well and other nucleotide repeat diseases with the exclusion of Huntington's Disease. The analysis will be conducted to provide better clinical, genetic, and pathological characterizations of neurodegenerative forms of spinocerebellar ataxia. The investigators would like to create a repository for samples on these cases as well as prospective cases who are seen via clinic, support groups, referrals etc. The investigators will perform clinical evaluations utilizing ataxia pertinent scales. The investigators project to expand the present genealogical bank by collecting more specimens and identify more families in the process. All this will be performed in collaboration with basic scientists in order to conduct proper laboratory investigation that will help arrive at a cure for neurodegenerative forms of spinocerebellar ataxia and nucleotide repeat diseases excluding Huntington's Disease .


Recruitment information / eligibility

Status Recruiting
Enrollment 1000
Est. completion date August 2024
Est. primary completion date August 2024
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 18 Years and older
Eligibility 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. 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


Intervention

Other:
Specimen collection
Blood, urine, stool, cerebrospinal fluid, and skin biopsy may be collected

Locations

Country Name City State
United States Mayo Clinic in Florida Jacksonville Florida

Sponsors (1)

Lead Sponsor Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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
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