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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by Mayo Clinic
Sponsor:
Information provided by (Responsible Party):
Kevin B. Boylan, Mayo Clinic
ClinicalTrials.gov Identifier:
NCT01699451
First received: September 30, 2012
Last updated: September 12, 2014
Last verified: September 2014
  Purpose

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. Participants will not be paid for taking part in this study.


Condition
Amyotrophic Lateral Sclerosis (ALS)

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: DNA, Blood and Skin Cell Repository for Research on ALS and Related Neurodegenerative Disorders at Mayo Clinic Florida

Resource links provided by NLM:


Further study details as provided by Mayo Clinic:

Primary Outcome Measures:
  • Repository sample collection [ Time Frame: once ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

This study will establish a repository of stored DNA, RNA, monocyte, lymphocyte 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.


Estimated Enrollment: 160
Study Start Date: September 2012
Estimated Study Completion Date: September 2015
Estimated Primary Completion Date: September 2015 (Final data collection date for primary outcome measure)
  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

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.

Criteria

Inclusion Criteria:

  • ALS Patient

    1. 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
    2. > 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

    1. No personal history of ALS, ALS-FTD or other motor neuron disease
    2. Family history of ALS, ALS-FTD in a first, second or third degree blood relative
    3. > or = 18 years of age and willing to provide consent
  • Control

    1. No personal or family history (first or second degree blood relative) of ALS, dementia, Parkinson disease or other relevant neurodegenerative disorder
    2. > 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

    1. 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
    2. Limited mental capacity rendering the subject unable to comply with skin punch biopsy or standard phlebotomy procedures
    3. 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

    1. Personal or family history of dementia or other neurodegenerative disease (Parkinson disease, Alzheimer disease, etc.)
    2. Limited mental capacity rendering the subject unable to provide written informed consent or comply with standard phlebotomy procedures
    3. For collection of skin punch biopsy, an increased risk of bleeding complications or allergy to local anesthetic administered at the time of skin biopsy
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01699451

Contacts
Contact: Catherine Ruiz 904-953-6523

Locations
United States, Florida
Mayo Clinic Florida Recruiting
Jacksonville, Florida, United States, 32224
Contact: Catherine Ruiz    904-953-6523      
Principal Investigator: Kevin Boylan, MD         
Sponsors and Collaborators
Mayo Clinic
Investigators
Principal Investigator: Kevin Boylan, MD Mayo Clinic Florida
  More Information

No publications provided

Responsible Party: Kevin B. Boylan, PI, Mayo Clinic
ClinicalTrials.gov Identifier: NCT01699451     History of Changes
Other Study ID Numbers: 12-004718
Study First Received: September 30, 2012
Last Updated: September 12, 2014
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Nervous System Diseases
Motor Neuron Disease
TDP-43 Proteinopathies
Neuromuscular Diseases
Proteostasis Deficiencies
Metabolic Diseases

ClinicalTrials.gov processed this record on October 16, 2014