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| ID | Type | Description | Link |
|---|---|---|---|
| U54NS092091 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
| National Center for Advancing Translational Sciences (NCATS) | NIH |
| St. Jude Children's Research Hospital | OTHER |
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The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.
This study will recruit patients with ALS, ALS-FTD, PLS, HSP, and PMA, with a focus on incident cases. Patients with both familial and sporadic forms of these diseases will be enrolled and followed longitudinally using a standardized set of evaluations. Biological samples (blood, urine, CSF) will be collected from all study participants, and will be used for biomarker discovery and validation. Family members of affected individuals may also be enrolled and asked to contribute DNA and biological samples to aid genetic and biomarker discovery.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Affected | Affected with any of the diseases that are the focus of study by the CReATe Consortium, including ALS, ALS-FTD, HSP, PLS, PMA and MSP. | ||
| Unaffected | Unaffected family members of enrolled affected individuals. |
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| Measure | Description | Time Frame |
|---|---|---|
| Phenotypic correlates of genotype | Using longitudinally collected deep phenotypic data, this project aims to define the natural history (i.e. temporal rate of disease progression) of the motor and frontotemporal system (behavior, cognition and language) phenotypes of ALS and related disorders in patients with identifiable genetic mutations. | 24 months |
| Genetic determinants of phenotype | By combining longitudinally collected deep phenotypic data with deep genetic data (e.g. whole exome or whole genome sequencing), this project aims to define genetic variants that are associated with identifiable phenotypic features in patients with ALS and related disorders. | 24 months |
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| Measure | Description | Time Frame |
|---|---|---|
| Biomarkers | Biomarkers relevant to therapeutic development | 24 months |
Inclusion Criteria:
Member of at least one of the following categories:
Able and willing to comply with relevant procedures.
Exclusion Criteria:
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Patients with ALS or a related neurodegenerative disorder, including FTD, HSP, PLS, PMA and MSP. Select family members of affected participants.
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| Name | Affiliation | Role |
|---|---|---|
| Michael Benatar, DPhil | University of Miami | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Stanford University | Palo Alto | California | 94304 | United States | ||
| University of California San Diego (UCSD) |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39270623 | Derived | Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J; CReATe Consortium PGB1 Study Investigators. Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression: validation and implications for clinical trial design and analysis. EBioMedicine. 2024 Oct;108:105323. doi: 10.1016/j.ebiom.2024.105323. Epub 2024 Sep 12. | |
| 39185513 |
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| ALS Association |
| OTHER |
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DNA, serum, urine and CSF
| San Diego |
| California |
| 92093 |
| United States |
| California Pacific Medical Center (CPMC) | San Francisco | California | 94115 | United States |
| University of Miami | Miami | Florida | 33136 | United States |
| University of Iowa | Iowa City | Iowa | 52242 | United States |
| Kansas University Medical Center (KUMC) | Kansas City | Kansas | 66160 | United States |
| Twin Cities ALS Research Consortium | Minneapolis | Minnesota | 55415 | United States |
| Wake Forest University | Winston-Salem | North Carolina | 27157 | United States |
| Cleveland Clinic | Cleveland | Ohio | 44195 | United States |
| University of Pennsylvania | Philadelphia | Pennsylvania | 19104 | United States |
| University of Texas Southwestern (UTSW) | Dallas | Texas | 75390 | United States |
| University of Texas Health Science Center San Antonio (UTHSCSA) | San Antonio | Texas | 78229 | United States |
| University of Virginia (UVA) | Charlottesville | Virginia | 22908 | United States |
| Eberhard Karls University of Tübingen | Tübingen | Germany |
| University of Cape Town | Cape Town | South Africa |
| Derived |
| Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J. Prognostic Clinical and Biological Markers for Amyotrophic Lateral Sclerosis Disease Progression: Validation and Implications for Clinical Trial Design and Analysis. medRxiv [Preprint]. 2024 Aug 13:2024.08.12.24311876. doi: 10.1101/2024.08.12.24311876. |
| ID | Term |
|---|---|
| D000690 | Amyotrophic Lateral Sclerosis |
| D057180 | Frontotemporal Dementia |
| D016472 | Motor Neuron Disease |
| D015419 | Spastic Paraplegia, Hereditary |
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D019636 | Neurodegenerative Diseases |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D057174 | Frontotemporal Lobar Degeneration |
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| 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 |
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