Phenotype, Genotype & Biomarkers in ALS and Related Disorders
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| ClinicalTrials.gov Identifier: NCT02327845 |
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Recruitment Status :
Recruiting
First Posted : December 30, 2014
Last Update Posted : January 9, 2019
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Sponsor:
University of Miami
Collaborators:
National Institute of Neurological Disorders and Stroke (NINDS)
National Center for Advancing Translational Science (NCATS)
St. Jude Children's Research Hospital
ALS Association
Information provided by (Responsible Party):
Michael Benatar, University of Miami
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Brief Summary:
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.
| Condition or disease |
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| Amyotrophic Lateral Sclerosis Frontotemporal Dementia Primary Lateral Sclerosis Hereditary Spastic Paraplegia Progressive Muscular Atrophy Multisystem Proteinopathy |
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 |
| Estimated Enrollment : | 700 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | Phenotype, Genotype & Biomarkers in ALS and Related Disorders |
| Study Start Date : | April 2015 |
| Estimated Primary Completion Date : | August 2019 |
| Estimated Study Completion Date : | August 2019 |
Resource links provided by the National Library of Medicine
Genetics Home Reference related topics:
CHMP2B-related frontotemporal dementia
GRN-related frontotemporal dementia
Silver syndrome
Troyer syndrome
Amyotrophic lateral sclerosis
Fatty acid hydroxylase-associated neurodegeneration
Frontotemporal dementia with parkinsonism-17
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Spastic paraplegia type 11
Spastic paraplegia type 15
Spastic paraplegia type 2
Spastic paraplegia type 3A
Spastic paraplegia type 4
Spastic paraplegia type 49
Spastic paraplegia type 5A
Spastic paraplegia type 7
Spastic paraplegia type 8
Genetic and Rare Diseases Information Center resources:
Spinal Muscular Atrophy
Amyotrophic Lateral Sclerosis
Primary Progressive Aphasia
Frontotemporal Dementia
Frontotemporal Dementia, Ubiquitin-positive
Pick's Disease
Semantic Dementia
Paraplegia
Hereditary Spastic Paraplegia
Infantile-onset Ascending Hereditary Spastic Paralysis
Primary Lateral Sclerosis
Charcot-Marie-Tooth Disease
Hereditary Neuropathy With Liability to Pressure Palsies
Roussy Levy Syndrome
| 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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Primary Outcome Measures :
- Phenotypic correlates of genotype [ Time Frame: 24 months ]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.
- Genetic determinants of phenotype [ Time Frame: 24 months ]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.
Other Outcome Measures:
- Biomarkers [ Time Frame: 24 months ]Biomarkers relevant to therapeutic development
Biospecimen Retention: Samples With DNA
DNA, serum, urine and CSF
Information from the National Library of Medicine
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| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| 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.
Criteria
Inclusion Criteria:
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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.
Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02327845
Contacts
| Contact: Michael Benatar, MBChB, MS, DPhil | 305-243-4015 | ||
| Contact: Sumaira Hussain | 1-844-837-1031 | projectcreate@med.miami.edu |
Locations
| United States, California | |
| Stanford University | Recruiting |
| Palo Alto, California, United States, 94304 | |
| Contact: Mitchell Reddan 650-497-3080 mreddan@stanford.edu | |
| Principal Investigator: Yuen So, MD | |
| Principal Investigator: John Day, MD | |
| University of California San Diego (UCSD) | Recruiting |
| San Diego, California, United States, 92093 | |
| Contact: Gil Gutierrez 858-246-2325 grg005@ucsd.edu | |
| Principal Investigator: John Ravits, MD | |
| California Pacific Medical Center (CPMC) | Recruiting |
| San Francisco, California, United States, 94115 | |
| Contact: Simon Carty 415-600-1368 cartys@sutterhealth.org | |
| Principal Investigator: Jonathan Katz, MD | |
| United States, Florida | |
| University of Miami | Recruiting |
| Miami, Florida, United States, 33136 | |
| Contact: Sumaira Hussain 1-844-837-1031 projectcreate@miami.edu | |
| Principal Investigator: Michael Benatar, MBChB, MS, DPhil | |
| United States, Iowa | |
| University of Iowa | Recruiting |
| Iowa City, Iowa, United States, 52242 | |
| Contact: Jeri Sieren 319-356-8744 Jeri-Sieren@uiowa.edu | |
| Principal Investigator: Andrea Swenson, MD | |
| United States, Kansas | |
| Kansas University Medical Center (KUMC) | Recruiting |
| Kansas City, Kansas, United States, 66160 | |
| Contact: Hellen Tanui 913-945-9934 htanui@kumc.edu | |
| Principal Investigator: Richard Barohn, MD | |
| United States, Minnesota | |
| Twin Cities ALS Research Consortium | Recruiting |
| Minneapolis, Minnesota, United States, 55415 | |
| Contact: Cherie Martinson 612-873-5462 cmartinson@hhrinstitute.org | |
| Principal Investigator: Samuel Maiser, MD | |
| Principal Investigator: David Walk, MD | |
| United States, North Carolina | |
| Wake Forest University | Recruiting |
| Winston-Salem, North Carolina, United States, 27157 | |
| Contact: Mozhdeh Marandi 336-713-8577 mmarandi@wakehealth.edu | |
| Principal Investigator: James Caress, MD | |
| United States, Ohio | |
| Cleveland Clinic | Recruiting |
| Cleveland, Ohio, United States, 44195 | |
| Contact: Debbie Hastings 216-445-3353 HASTIND@ccf.org | |
| Principal Investigator: Erik Pioro, MD | |
| United States, Pennsylvania | |
| University of Pennsylvania | Recruiting |
| Philadelphia, Pennsylvania, United States, 19104 | |
| Contact: Laura Hennessy 215-349-5695 laura.hennessy@uphs.upenn.edu | |
| Principal Investigator: Corey McMillan, Ph.D | |
| United States, Texas | |
| University of Texas Southwestern (UTSW) | Recruiting |
| Dallas, Texas, United States, 75390 | |
| Contact: Amy Conger 214-648-0214 Amy.Conger@utsouthwestern.edu | |
| Principal Investigator: Jaya Trivedi, MD | |
| University of Texas Health Science Center San Antonio (UTHSCSA) | Recruiting |
| San Antonio, Texas, United States, 78229 | |
| Contact: Pamela Kittrell 210-450-0524 Kittrellp@uthscsa.edu | |
| Principal Investigator: Carlayne Jackson, MD | |
| United States, Virginia | |
| University of Virginia (UVA) | Recruiting |
| Charlottesville, Virginia, United States, 22908 | |
| Contact: Mary Wagoner 434-982-0293 MIW9B@hscmail.mcc.virginia.edu | |
| Principal Investigator: Ted Burns, MD | |
| Germany | |
| Eberhard Karls University of Tübingen | Recruiting |
| Tübingen, Germany | |
| Contact: Katrin Dillmann 07071/29-85653 katrin.dillmann@med.uni-tuebingen.de | |
| Principal Investigator: Rebecca Schule, MD | |
| South Africa | |
| University of Cape Town | Recruiting |
| Cape Town, South Africa | |
| Contact: Fiona Drummond +27 (021) 404-3263 fionad@zsd.co.za | |
| Principal Investigator: Jeannine Heckmann, MD | |
Sponsors and Collaborators
University of Miami
National Institute of Neurological Disorders and Stroke (NINDS)
National Center for Advancing Translational Science (NCATS)
St. Jude Children's Research Hospital
ALS Association
| Responsible Party: | Michael Benatar, Chief of the Neuromuscular Division, Professor of Neurology, University of Miami |
| ClinicalTrials.gov Identifier: | NCT02327845 History of Changes |
| Other Study ID Numbers: |
U54NS092091 ( U.S. NIH Grant/Contract ) |
| First Posted: | December 30, 2014 Key Record Dates |
| Last Update Posted: | January 9, 2019 |
| Last Verified: | January 2019 |
Keywords provided by Michael Benatar, University of Miami:
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natural history, biomarkers, phenotype, genotype |
Additional relevant MeSH terms:
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Sclerosis Dementia Atrophy Motor Neuron Disease Amyotrophic Lateral Sclerosis Muscular Atrophy Frontotemporal Dementia Aphasia, Primary Progressive Pick Disease of the Brain Paraplegia Spastic Paraplegia, Hereditary Muscular Atrophy, Spinal Pathologic Processes Brain Diseases Central Nervous System Diseases |
Nervous System Diseases Neurocognitive Disorders Mental Disorders Pathological Conditions, Anatomical Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases TDP-43 Proteinopathies Proteostasis Deficiencies Metabolic Diseases Neuromuscular Manifestations Neurologic Manifestations Signs and Symptoms Frontotemporal Lobar Degeneration Aphasia |