Clinical trial NCT02327845: Phenotype, Genotype & Biomarkers in ALS and Related Disorders
Official title: Phenotype, Genotype & Biomarkers in ALS and Related Disorders
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Amyotrophic Lateral Sclerosis
Frontotemporal Dementia
Primary Lateral Sclerosis
Hereditary Spastic Paraplegia
Progressive Muscular Atrophy
Multisystem Proteinopathy
Keywords: natural history, biomarkers, phenotype, genotype
Lead sponsor: University of Miami
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
name: National Center for Advancing Translational Sciences (NCATS)
name: St. Jude Children's Research Hospital
name: ALS Association
First posted: 2014-12-30
Enrollment: 700
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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.

Eligibility 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.

Primary outcomes:
measure: Phenotypic correlates of genotype
timeFrame: 24 months
measure: Genetic determinants of phenotype
timeFrame: 24 months
Secondary outcomes:
Other outcomes:
measure: Biomarkers
timeFrame: 24 months
Locations:
city: Palo Alto
country: United States
facility: Stanford University
state: California
city: San Diego
country: United States
facility: University of California San Diego (UCSD)
state: California
city: San Francisco
country: United States
facility: California Pacific Medical Center (CPMC)
state: California
city: Miami
country: United States
facility: University of Miami
state: Florida
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: Kansas City
country: United States
facility: Kansas University Medical Center (KUMC)
state: Kansas
city: Minneapolis
country: United States
facility: Twin Cities ALS Research Consortium
state: Minnesota
city: Winston-Salem
country: United States
facility: Wake Forest University
state: North Carolina
city: Cleveland
country: United States
facility: Cleveland Clinic
state: Ohio
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
city: Dallas
country: United States
facility: University of Texas Southwestern (UTSW)
state: Texas
city: San Antonio
country: United States
facility: University of Texas Health Science Center San Antonio (UTHSCSA)
state: Texas
city: Charlottesville
country: United States
facility: University of Virginia (UVA)
state: Virginia
city: Tübingen
country: Germany
facility: Eberhard Karls University of Tübingen
city: Cape Town
country: South Africa
facility: University of Cape Town
Study officials:
affiliation: University of Miami
name: Michael Benatar, DPhil
role: PRINCIPAL_INVESTIGATOR
References: