Tissue Repository for Neurodegenerative Diseases


Status: Recruiting
Keywords: ataxia , parkinson's , alzheimer's , ALS
IRB Number: 00035351
Specialty: Neurology, Neurology, Neurology
Sub Specialties: Alzheimer's Disease, Ataxia, ALS

Brief Summary

This tissue repository is for existing cell lines to be used as needed for genetic studies including but not limited to mutation analyses for age of onset modifiers, disease candidate genes, protein interactors, linkage studies and or drug trials.
All cell lines are coded but due to the various time of collection the information available to us varies, all samples prior to 2000 will have either the patient full name, family name or name initials. Approximately 95% of the samples will also contain the disease status and in the case of multiple samples from the same kinship relationship of one patient to the other such as sib ship or spouse.
We view this study as a minimal risk study since participation in the research be no greater than those encountered by the subject in those aspects of his or her everyday life that relate to the research therefore we believe that his research can be regarded as within the range of minimal risk.
Since this application is for tissue repository creation only and does not include approval for any analyses we will submit a new study application to the IRB each time a specific analysis is identified.

Principal Investigator: Stefan Pulst
Department: Neurology
Co Investigator: Norman Foster

Contact Information

Name:Karla Figueroa
Phone: 801 585 1077
Email: karlaf@genetics.utah.edu

Inclusion Criteria

No participants were excluded. This is a cohort of ataxia patients that were recruited due to their manifesting phenotype during clinical examination. If the patient was noted to be a sporatic case then no family members were obtained it the patient was found to have a familial case other family members were recruited and blood was obtained and lymphoblast cell lines were created. There will be a total of 201 cell lines transfered from Cedars Sinai Medical Center to the Univerisity of Utah.
We would like to enroll approximately 1000 patients from our Neurology Clinic. The breakdown of the patients will be to include the following Neurodegenerative Diseases Parkinson’s Disease, Degenerative Ataxias, Amyotrophic Lateral Sclerosis (ALS) and Alzheimer’s Disease

Exclusion Criteria