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

Mayo Clinic

Status: Completed

Conditions: Amyotrophic Lateral Sclerosis (ALS)

Study type: Observational

Funder types: Other

Identifiers

NCT01699451

12-004718

Details and patient eligibility

About

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.

Enrollment: 33 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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