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

Last updated: September 30, 2024
Sponsor: Mayo Clinic
Overall Status: Active - Recruiting

Phase

N/A

Condition

Spinocerebellar Disorders

Dyskinesias

Friedreich's Ataxia

Treatment

Specimen collection

Clinical Study ID

NCT04529252
16-009414
  • Ages > 18
  • All Genders
  • Accepts Healthy Volunteers

Study 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 Criteria

Inclusion

Inclusion Criteria:

  • Males and females over the age of 18 years

  • We acknowledge that some participants may be unable to consent due to underlyingmedical conditions; an eligible proxy may provide the informed consent and provide asignature on the designated line.

  • Participants with a clinical diagnosis of spinocerebellar ataxia and othernucleotide repeat diseases (not including Huntington's Disease) with or without agenetic mutation and unaffected family members (grandparents, parents, brothers,sisters, cousins, uncles and aunts) who may or may not carry a genetic mutation forthe disease.

  • Patients with genetic neurodegenerative form of spinocerebellar ataxia and othernucleotide repeat diseases excluding Huntington's Disease who do not have a knownfamily history of genetic neurodegenerative spinocerebellar ataxia.

  • Women of childbearing age will be included as they will not be exposed to anyharmful 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 ofinherited neurodegenerative forms of spinocerebellar ataxia or nucleotide repeatdiseases (not including Huntington's Disease) will be enrolled as controls.

  • Spouses and caregivers of patients with spinocerebellar ataxia and nucleotide repeatdiseases (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

Exclusion Criteria:

  • Patients that do not want to participate by either checking no on the contact letteror refusing over the phone. This will be recorded in the Progeny system and patientswill not be contacted again.

  • Allergy to study-related materials including lidocaine or iodine. We will make allefforts to utilize alternative means when obtaining specimens (i.e. using rubbingalcohol 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 unaffectedand 500 controls patients).

Study Design

Total Participants: 1000
Treatment Group(s): 1
Primary Treatment: Specimen collection
Phase:
Study Start date:
July 17, 2017
Estimated Completion Date:
December 31, 2026

Study 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 .

Connect with a study center

  • Mayo Clinic in Florida

    Jacksonville, Florida 32224
    United States

    Active - Recruiting

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