Phase
Condition
Spinocerebellar Disorders
Dyskinesias
Friedreich's Ataxia
Treatment
Specimen collection
Clinical Study ID
Ages > 18 All Genders Accepts Healthy Volunteers
Study Summary
Eligibility Criteria
Inclusion
Inclusion Criteria:
Males and females over the age of 18 years
We acknowledge that some participants may be unable to consent due to underlyingmedical conditions; an eligible proxy may provide the informed consent and provide asignature on the designated line.
Participants with a clinical diagnosis of spinocerebellar ataxia and othernucleotide repeat diseases (not including Huntington's Disease) with or without agenetic mutation and unaffected family members (grandparents, parents, brothers,sisters, cousins, uncles and aunts) who may or may not carry a genetic mutation forthe disease.
Patients with genetic neurodegenerative form of spinocerebellar ataxia and othernucleotide repeat diseases excluding Huntington's Disease who do not have a knownfamily history of genetic neurodegenerative spinocerebellar ataxia.
Women of childbearing age will be included as they will not be exposed to anyharmful 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 ofinherited neurodegenerative forms of spinocerebellar ataxia or nucleotide repeatdiseases (not including Huntington's Disease) will be enrolled as controls.
Spouses and caregivers of patients with spinocerebellar ataxia and nucleotide repeatdiseases (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
Exclusion Criteria:
Patients that do not want to participate by either checking no on the contact letteror refusing over the phone. This will be recorded in the Progeny system and patientswill not be contacted again.
Allergy to study-related materials including lidocaine or iodine. We will make allefforts to utilize alternative means when obtaining specimens (i.e. using rubbingalcohol 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 unaffectedand 500 controls patients).
Study Design
Study Description
Connect with a study center
Mayo Clinic in Florida
Jacksonville, Florida 32224
United StatesActive - Recruiting
Not the study for you?
Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.