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

• ClinicalTrials.gov Identifier: NCT01699451
• Recruitment Status: Completed
• First Posted: October 3, 2012
• Last Update Posted: February 15, 2022
• Sponsor: Mayo Clinic
• Information provided by (Responsible Party): Bjorn E. Oskarsson, Mayo Clinic

Tracking Information

• First Submitted Date: September 30, 2012
• First Posted Date: October 3, 2012
• Last Update Posted Date: February 15, 2022
• Study Start Date: September 2012
• Actual Primary Completion Date: December 2014 (Final data collection date for primary outcome measure)
• Current Primary Outcome Measures (submitted: September 12, 2014): Repository sample collection [ Time Frame: once ]
• Original Primary Outcome Measures: Not Provided
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: DNA, Blood and Skin Cell Repository for Research on ALS and Related Neurodegenerative Disorders at Mayo Clinic Florida
• Official Title: DNA, Blood and Skin Cell Repository for Research on ALS and Related Neurodegenerative Disorders at Mayo Clinic Florida
• Brief 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. Participants will not be paid for taking part in this study.
• Detailed Description: Not Provided
• Study Type: Observational
• Study Design: Observational Model: Other; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided

Biospecimen

Retention:   Samples With DNA

Description:

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.

• 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.
• Condition: Amyotrophic Lateral Sclerosis (ALS)
• Intervention: Not Provided
• Study Groups/Cohorts: Not Provided
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Completed
• Actual Enrollment (submitted: February 14, 2022): 33
• Original Estimated Enrollment (submitted: October 2, 2012): 18
• Actual Study Completion Date: December 2014
• Actual Primary Completion Date: December 2014 (Final data collection date for primary outcome measure)

Eligibility 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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT01699451
• Other Study ID Numbers: 12-004718
• Has Data Monitoring Committee: No
• U.S. FDA-regulated Product: Not Provided

IPD Sharing Statement

• Plan to Share IPD: No

• Current Responsible Party: Bjorn E. Oskarsson, Mayo Clinic
• Original Responsible Party: Kevin B. Boylan, Mayo Clinic, PI
• Current Study Sponsor: Mayo Clinic
• Original Study Sponsor: Same as current
• Collaborators: Not Provided

Investigators

• Principal Investigator: Bjorn Oskarsson, MD; Mayo Clinic

• PRS Account: Mayo Clinic
• Verification Date: February 2022