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

Overview

About this study

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.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria: 

  • Male and females over the age of 18 years.
  • Willing and able to give informed consent.
  • Diagnosis of ataxia and other nucleotide repeat diseases with genetic mutation and unaffected family members.
  • Patients with ataxia and other nucleotide repeat diseases who do not have known family history.
  • Males and females over 18 years of age with no known history of cerebellar ataxia or nucleotide repeat diseases will be used as controls.                  

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.
  • We propose to include 1000 subjects in our repository.

 

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Jacksonville, Fla.

Mayo Clinic principal investigator

Zbigniew Wszolek, M.D.

Open for enrollment

Contact information:

Audrey Strongosky C.C.R.C.

Strongosky.Audrey2@mayo.edu

More information

Publications

Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available

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CLS-20358455

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