Phenotype, Genotype & Biomarkers in ALS and Related Disorders

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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
Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; Primary Lateral Sclerosis; Hereditary Spastic Paraplegia; Progressive Muscular Atrophy; Multisystem Proteinopathy

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 Design

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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

Groups and Cohorts

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Group/Cohort
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.

Outcome Measures

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Primary Outcome Measures :

1. 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.
2. 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:

1. Biomarkers [ Time Frame: 24 months ]
   Biomarkers relevant to therapeutic development

Biospecimen Retention:   Samples With DNA

DNA, serum, urine and CSF

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	Child, Adult, Senior
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:

• Member of at least one of the following categories:

  1. Individuals with a clinical diagnosis of ALS or a related disorder, including FTD, HSP, PLS, PMA and MSP (sporadic or familial).
  2. 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.

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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: Michael Nguyen 650-724-6147 mdnguyen@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: Yolanda Harness 913-945-9928 yharness@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 Cherie.Martinson@hcmed.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
Canada
University of Alberta	Not yet recruiting
Edmonton, Canada
Contact: Dennell Mah dennell@ualberta.ca
Principal Investigator: Sanjay Kalra, 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

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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
Last Update Posted:	January 23, 2018
Last Verified:	January 2018

Keywords provided by Michael Benatar, University of Miami:

natural history, biomarkers, phenotype, genotype

Additional relevant MeSH terms:

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