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| ID | Type | Description | Link |
|---|---|---|---|
| 5P01NS084974 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
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The purpose of this study is to collect, from patients with sporadic and familial ALS and their family members, clinical data and blood samples for extraction of DNA, RNA, preparation of lymphocytes, plasma and serum to establish a repository for future investigations of genetic contributions to ALS pathogenesis. Blood samples for DNA extraction also would be collected from control subjects with no personal or family history of ALS phenotypes.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| ALS or Suspected ALS Patient | Subjects with clinical diagnosis of possible, laboratory-supported probable, probable or definite, ALS or diagnosis of a neurodegenerative disorder with evidence of ALS plus extramotor features or a blood relative (first, second or third degree) with history of ALS or neurodegenerative disorder with evidence of ALS plus extramotor features. | ||
| Blood Relative of ALS Patient | Subjects with family history (first, second or third degree blood relative) of ALS or other motor neuron disease. | ||
| Healthy Control | Subjects with no personal or family history (first, second or third degree blood relative) of ALS or other motor neuron disease |
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| Measure | Description | Time Frame |
|---|---|---|
| Blood Collection | Total number of blood samples collected | 50 years |
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Inclusion Criteria
ALS or Suspected 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
Blood relative (first, second or third degree) with history of ALS or neurodegenerative disorder with evidence of ALS plus extramotor features; OR:
Blood Relative of ALS Patient
Healthy Control
Exclusion Criteria:
ALS or Suspected Patient • Limited mental capacity rendering the subject unable to provide written informed consent or assent or comply with standard phlebotomy procedures.
Blood Relative of ALS Patient
• Limited mental capacity rendering the subject unable to provide written informed consent or comply with standard phlebotomy procedures.
Healthy Control Subject
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Eligible subjects with ALS or suspected ALS or family history of ALS will be identified from patients seen in the Department of Neurology at Mayo Clinic Jacksonville. Inclusion criteria include standardized diagnostic criteria for ALS as used in ALS therapeutic trials and patients with clinically suspected ALS.
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| Name | Affiliation | Role |
|---|---|---|
| Bjorn Oskarsson, MD | Mayo Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Mayo Clinic Florida | Recruiting | Jacksonville | Florida | 32224 | United States |
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| ID | Term |
|---|---|
| D000690 | Amyotrophic Lateral Sclerosis |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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| D019636 | Neurodegenerative Diseases |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |