- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02327845
Phenotype, Genotype & Biomarkers in ALS and Related Disorders
March 18, 2024 updated by: Michael Benatar, University of Miami
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.
Study Overview
Status
Enrolling by invitation
Detailed Description
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.
Study Type
Observational
Enrollment (Estimated)
700
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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Tübingen, Germany
- Eberhard Karls University of Tübingen
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Cape Town, South Africa
- University of Cape Town
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California
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Palo Alto, California, United States, 94304
- Stanford University
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San Diego, California, United States, 92093
- University of California San Diego (UCSD)
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San Francisco, California, United States, 94115
- California Pacific Medical Center (CPMC)
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Florida
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Miami, Florida, United States, 33136
- University of Miami
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Iowa
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Iowa City, Iowa, United States, 52242
- University of Iowa
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Kansas
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Kansas City, Kansas, United States, 66160
- Kansas University Medical Center (KUMC)
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Minnesota
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Minneapolis, Minnesota, United States, 55415
- Twin Cities ALS Research Consortium
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North Carolina
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Winston-Salem, North Carolina, United States, 27157
- Wake Forest University
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Ohio
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Cleveland, Ohio, United States, 44195
- Cleveland Clinic
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Pennsylvania
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Philadelphia, Pennsylvania, United States, 19104
- University of Pennsylvania
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Texas
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Dallas, Texas, United States, 75390
- University of Texas Southwestern (UTSW)
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San Antonio, Texas, United States, 78229
- University of Texas Health Science Center San Antonio (UTHSCSA)
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Virginia
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Charlottesville, Virginia, United States, 22908
- University of Virginia (UVA)
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Yes
Sampling Method
Non-Probability Sample
Study Population
Patients with ALS or a related neurodegenerative disorder, including FTD, HSP, PLS, PMA and MSP.
Select family members of affected participants.
Description
Inclusion Criteria:
Member of at least one of the following categories:
- Individuals with a clinical diagnosis of ALS or a related disorder, including FTD, HSP, PLS, PMA and MSP (sporadic or familial).
- Family member of an enrolled affected individual.
- Able and willing to comply with relevant procedures.
Exclusion Criteria:
- Affected with end or late stage disease.
- A condition or situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol. This includes (but is not limited to) neurological, psychological and/or medical conditions.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
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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.
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Unaffected
Unaffected family members of enrolled affected individuals.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Phenotypic correlates of genotype
Time Frame: 24 months
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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.
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24 months
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Genetic determinants of phenotype
Time Frame: 24 months
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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.
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24 months
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Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Biomarkers
Time Frame: 24 months
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Biomarkers relevant to therapeutic development
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24 months
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Collaborators
Investigators
- Principal Investigator: Michael Benatar, DPhil, University of Miami
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
April 1, 2015
Primary Completion (Estimated)
July 1, 2025
Study Completion (Estimated)
July 1, 2025
Study Registration Dates
First Submitted
December 24, 2014
First Submitted That Met QC Criteria
December 24, 2014
First Posted (Estimated)
December 30, 2014
Study Record Updates
Last Update Posted (Actual)
March 19, 2024
Last Update Submitted That Met QC Criteria
March 18, 2024
Last Verified
March 1, 2024
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Mental Disorders
- Pathologic Processes
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Neurocognitive Disorders
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Neuromuscular Diseases
- Neurodegenerative Diseases
- Peripheral Nervous System Diseases
- Neuromuscular Manifestations
- Pathological Conditions, Anatomical
- Spinal Cord Diseases
- TDP-43 Proteinopathies
- Proteostasis Deficiencies
- Heredodegenerative Disorders, Nervous System
- Dementia
- Atrophy
- Nervous System Malformations
- Language Disorders
- Communication Disorders
- Paralysis
- Speech Disorders
- Frontotemporal Lobar Degeneration
- Aphasia
- Polyneuropathies
- Hereditary Sensory and Motor Neuropathy
- Sclerosis
- Motor Neuron Disease
- Amyotrophic Lateral Sclerosis
- Muscular Atrophy
- Frontotemporal Dementia
- Aphasia, Primary Progressive
- Pick Disease of the Brain
- Muscular Atrophy, Spinal
- Paraplegia
- Spastic Paraplegia, Hereditary
Other Study ID Numbers
- 20160603
- U54NS092091 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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