DNA, Blood and Skin Cell Repository for Research on ALS and Related Neurodegenerative Disorders at Mayo Clinic Florida

Study Purpose:

This study will establish a repository of stored DNA, RNA and skin fibroblast samples from people with ALS and ALS-FTD, subjects with a family history of ALS who do not have ALS or ALS-FTD, and subjects with no personal history of ALS or dementia, to support future translational and basic research studies on ALS and related neurodegenerative disorders.

Disease:

Amyotrophic Lateral Sclerosis (ALS),  Familial ALS,  Sporadic ALS, Healthy Volunteer

Study Type:

Observational Study

Study Category:

Biomarkers/Imaging

Study Status:

Enrolling by invitation

Phase:

Not Applicable

Study Chair(s)/Principal Investigator(s):

Kevin B. Boylan, MD (Mayo Clinic Florida)

Clinicaltrials.gov ID (11 digit #):

NCT01699451

Neals Affiliated?

No

Coordinating Center Contact Information

Mayo Clinic Florida
Kristin Staggs / .(JavaScript must be enabled to view this email address) / 904-953-6523
.(JavaScript must be enabled to view this email address) Jacksonville, Florida 32224 United States

Full Study Summary:

This study is intended to obtain clinical information and establish a repository of DNA, RNA, peripheral blood monocyte, lymphocyte and skin tissue samples from people with ALS and related neurodegenerative motor neuron diseases, people with a family history of these conditions, and healthy people with no family history of these disorders. The samples will be used in future research to learn about how these disorders affect people, what causes these conditions, and how the investigators can tell when someone has this kind of disease. Future research may also include the generation of stem cells from stored blood cell and skin cell samples.


Eligible patients will be female or male, > or = 18 years of age. ALS and control subjects will meet eligibility criteria. Control subjects will be similar in age to ALS patients. No special classes of subjects are specifically sought or excluded from the protocol.

Study Sponsor:

Mayo Clinic

Participant Duration:

Estimated Enrollment:

18

Estimated Study Start Date:

08/31/2012

Estimated Study Completion Date:

12/31/2015

Posting Last Modified Date:

12/31/2012

Date Study Added to alsconsortium.org:

10/02/2012
  • More Information
  • Eligibility Criteria

    Gender:

    Female, Male

    Minimum Age:

    18

    Maximum Age:

    N/A

    Time since Symptom Onset:

    Time since Diagnosis:

    Can participants use Riluzole?


    Inclusion Criteria:
    ALS Patient
    Clinical diagnosis of possible, laboratory-supported probable, probable or definite ALS according to modified EL Escorial criteria, suspected ALS according to original El Escorial criteria, or diagnosis of a neurodegenerative disorder with evidence of ALS plus extramotor features
    > or = 18 years of age and willing to provide consent, or assent, if unable to consent

    Subject with family history of ALS or other relevant neurodegenerative disease
    No personal history of ALS, ALS-FTD or other motor neuron disease
    Family history of ALS, ALS-FTD in a first, second or third degree blood relative
    > or = 18 years of age and willing to provide consent

    Control
    No personal or family history (first or second degree blood relative) of ALS, dementia, Parkinson disease or other relevant neurodegenerative disorder
    > or = 18 years of age and willing to provide consent

    Exclusion Criteria:
    ALS Subject and subject with family history of ALS/ALS-FTD or other neurodegenerative motor neuron disorder but no personal history of such conditions
    History of medical disorder that leaves in question whether neurological signs and symptoms potentially related to a neurodegenerative disease may be contributed to by an acquired condition
    Limited mental capacity rendering the subject unable to comply with skin punch biopsy or standard phlebotomy procedures
    For collection of skin punch biopsy, an increased risk of bleeding complications or allergy to local anesthetic administered at the time of skin biopsy

    Healthy Control Subject
    Personal or family history of dementia or other neurodegenerative disease (Parkinson disease, Alzheimer disease, etc.)
    Limited mental capacity rendering the subject unable to provide written informed consent or comply with standard phlebotomy procedures
    For collection of skin punch biopsy, an increased risk of bleeding complications or allergy to local anesthetic administered at the time of skin biopsy

  • Site Contact Information

    Mayo Clinic Florida
    Kristin Staggs / 904-953-6523
    Jacksonville, Florida 32224
    United States