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

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ClinicalTrials.gov Identifier: NCT04529252
Recruitment Status : Recruiting
First Posted : August 27, 2020
Last Update Posted : October 14, 2020
Sponsor:
Information provided by (Responsible Party):
Zbigniew K. Wszolek, Mayo Clinic

Study Description
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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.

Condition or disease Intervention/treatment
Spinocerebellar Ataxias Cerebellar Ataxia Nucleotide Repeat Disease Other: Specimen collection

Detailed 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 .
Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 10 Years
Official Title: Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases
Actual Study Start Date : July 17, 2017
Estimated Primary Completion Date : August 2022
Estimated Study Completion Date : August 2023

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
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
Blood, urine, stool, cerebrospinal fluid, and skin biopsy may be collected
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
Blood, urine, stool, cerebrospinal fluid, and skin biopsy may be collected


Outcome Measures
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Primary Outcome Measures :
  1. Development of repository [ Time Frame: 10 years ]
    Specimen sample collection to create a repository for genetic neurodegenerative forms of spinocerebellar ataxia and nucleotide repeat diseases not including Huntington's disease


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.

Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
Criteria

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).
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04529252


Contacts
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Contact: Rana Hanna Al Shaikh, MD (904) 953-7229 shaikh.rana@mayo.edu
Contact: Audrey Strongosky (904) 953-6096 strongosky.audrey2@mayo.edu

Locations
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United States, Florida
Mayo Clinic in Florida Recruiting
Jacksonville, Florida, United States, 32224
Sponsors and Collaborators
Mayo Clinic
Investigators
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Principal Investigator: Zbigniew K Wszolek, MD Mayo Clinic
More Information
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Additional Information:

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Responsible Party: Zbigniew K. Wszolek, Principal Investigator, Mayo Clinic
ClinicalTrials.gov Identifier: NCT04529252    
Other Study ID Numbers: 16-009414
First Posted: August 27, 2020    Key Record Dates
Last Update Posted: October 14, 2020
Last Verified: October 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Ataxia
Cerebellar Ataxia
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
 Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn