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| ID | Type | Description | Link |
|---|---|---|---|
| U54NS092091 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
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The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Primary participants | Patients that have or are suspected to have ALS or a related neurodegenerative disease | ||
| Secondary Participants | Family members of primary participants enrolled in the study |
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| Measure | Description | Time Frame |
|---|---|---|
| Rates of change in revised ALS functional rating scale (ALSFRS-R) | Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease | 48 months |
| Rates of change in Slow vital capacity (SVC) | Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease | 48 months |
| Rates of change in Spastic paraplegia rating scale (SPRS) | Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease | 48 months |
| Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS) | Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease | 48 months |
| ALS Health Index (ALS-HI) | Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure | 48 months |
| Serum | Determine the diagnostic utility of serum neurofilament concentrations | 48 months |
| Cerebrospinal Fluid (CSF) |
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Inclusion Criteria for affected individuals (primary participants) include:
Exclusion Criteria for affected individuals (primary participants) include:
Inclusion criteria for biological family members (secondary participants) include:
Exclusion Criteria for biological family members (secondary participants) include:
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Primary participants - patients that have or are suspected to have ALS or a related disease.
Secondary participants - family members of primary participants enrolled in the study
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| Name | Affiliation | Role |
|---|---|---|
| Michael Benatar, MD, PhD | University of Miami | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Miami | Miami | Florida | 33136 | United States | ||
| University of Kansas Medical Center |
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| ID | Term |
|---|---|
| D000690 | Amyotrophic Lateral Sclerosis |
| D015419 | Spastic Paraplegia, Hereditary |
| D016472 | Motor Neuron Disease |
| D009134 | Muscular Atrophy, Spinal |
| D057180 | Frontotemporal Dementia |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D019636 | Neurodegenerative Diseases |
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Blood, Urine and CSF
Determine the diagnostic utility of CSF neurofilament concentrations
| 48 months |
| Kansas City |
| Kansas |
| 66160 |
| United States |
| University of Pennsylvania | Philadelphia | Pennsylvania | 19104 | United States |
| University of Cape Town | Cape Town | South Africa |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D057174 | Frontotemporal Lobar Degeneration |
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |