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

Overview

Información sobre este estudio

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.

Elegibilidad para la participación

Los requisitos de elegibilidad de los participantes incluyen la edad, el sexo, el tipo y el estadio de la enfermedad, y los problemas de salud o tratamientos previos. Las pautas difieren de un estudio a otro e identifican quiénes pueden o no pueden participar. No hay garantía de que cada persona elegible que desee participar en un ensayo se inscribirá. Comunícate con el equipo del estudio para analizar la elegibilidad del estudio y la posible participación.

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.

 

Sedes participantes de Mayo Clinic

Los estatus de los estudios cambian con frecuencia. Comunícate con el equipo del estudio para obtener la información más actualizada acerca de la posibilidad de participar.

Sede de Mayo Clinic Estatus Contacto

Jacksonville, Fla.

Investigador principal de Mayo Clinic

Zbigniew Wszolek, M.D.

Abierto para la inscripción

Contact information:

Audrey Strongosky C.C.R.C.

Strongosky.Audrey2@mayo.edu

More information

Publicaciones

Publications are currently not available