Investigating genetic and phenotypic aspects of ataxia and nucleotide repeat diseases
Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases
This study is trying to gather information and samples from people with cerebellar ataxia and other nucleotide repeat diseases, along with their family members, to better understand these conditions and work towards finding a cure.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Mayo Clinic Academic / other |
| Locations | 1 site (Jacksonville, Florida) |
| Trial ID | NCT04529252 on ClinicalTrials.gov |
What this trial studies
This observational study aims to create a comprehensive repository for cerebellar ataxia and nucleotide repeat diseases, excluding Huntington's Disease. It will involve the collection of clinical data and biological specimens from individuals diagnosed with these conditions, as well as their unaffected family members. The study will utilize ataxia-specific clinical evaluation scales to better characterize the genetic and phenotypic presentations of these neurodegenerative diseases. Collaboration with basic scientists will facilitate laboratory investigations aimed at understanding these conditions more deeply and potentially finding a cure.
Who should consider this trial
Good fit: Ideal candidates include adults over 18 with a clinical diagnosis of spinocerebellar ataxia or other nucleotide repeat diseases, as well as unaffected family members.
Not a fit: Patients with Huntington's Disease will not benefit from this study as it specifically excludes this condition.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and treatment options for patients with spinocerebellar ataxia and nucleotide repeat diseases.
How similar studies have performed: Other studies focusing on genetic and phenotypic characterization of neurodegenerative diseases have shown promise, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion 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).
Where this trial is running
Jacksonville, Florida
- Mayo Clinic in Florida — Jacksonville, Florida, United States (Recruiting)
Study contacts
- Principal investigator: Zbigniew K Wszolek, MD — Mayo Clinic
- Study coordinator: Zoe Parrales
- Email: parrales.zoe@mayo.edu
- Phone: (904) 953-3381
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.