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

Launched by MAYO CLINIC · Aug 24, 2020

Keywords

ClinConnect Summary

This clinical trial is focused on studying diseases known as cerebellar ataxias and nucleotide repeat diseases, which affect movement and coordination. Researchers want to gather information about the genetic factors (the DNA that can cause these conditions) and how the diseases appear in patients (their symptoms and characteristics). By collecting data from patients who have been diagnosed with these conditions, as well as their family members and healthy controls, the study aims to create a comprehensive resource to better understand these diseases.

To be eligible for the trial, participants must be at least 18 years old and have a clinical diagnosis of spinocerebellar ataxia or another nucleotide repeat disease, excluding Huntington's Disease. Family members of affected individuals can also take part, whether or not they have the genetic mutation associated with these diseases. Patients can expect to provide some health information and possibly participate in tests, but there will be no treatments involved. The study aims to include around 1,000 participants, with a mix of those affected by the diseases and healthy controls. This research is an important step in understanding these conditions and could lead to better treatments in the future.

Gender

ALL

Eligibility 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).