Phenotype, Genotype & Biomarkers in ALS and Related Disorders

Amyotrophic Lateral Sclerosis Clinical Trial

Official title:

Phenotype, Genotype & Biomarkers in ALS and Related Disorders

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT02327845
• Other study ID #: 20160603
• Secondary ID: U54NS092091
• Status: Enrolling by invitation
• Start date: April 2015
• Est. completion date: July 2025

Study information

• Verified date: March 2024
• Source: University of Miami
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 700
• Est. completion date: July 2025
• Est. primary completion date: July 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Amyotrophic Lateral Sclerosis
• Aphasia, Primary Progressive
• Frontotemporal Dementia
• Hereditary Spastic Paraplegia
• Motor Neuron Disease
• Multisystem Proteinopathy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Paraplegia
• Pick Disease of the Brain
• Primary Lateral Sclerosis
• Progressive Muscular Atrophy
• Sclerosis
• Spastic Paraplegia, Hereditary

Locations

Country	Name	City	State
Germany	Eberhard Karls University of Tübingen	Tübingen
South Africa	University of Cape Town	Cape Town
United States	University of Virginia (UVA)	Charlottesville	Virginia
United States	Cleveland Clinic	Cleveland	Ohio
United States	University of Texas Southwestern (UTSW)	Dallas	Texas
United States	University of Iowa	Iowa City	Iowa
United States	Kansas University Medical Center (KUMC)	Kansas City	Kansas
United States	University of Miami	Miami	Florida
United States	Twin Cities ALS Research Consortium	Minneapolis	Minnesota
United States	Stanford University	Palo Alto	California
United States	University of Pennsylvania	Philadelphia	Pennsylvania
United States	University of Texas Health Science Center San Antonio (UTHSCSA)	San Antonio	Texas
United States	University of California San Diego (UCSD)	San Diego	California
United States	California Pacific Medical Center (CPMC)	San Francisco	California
United States	Wake Forest University	Winston-Salem	North Carolina

Sponsors (5)

Lead Sponsor	Collaborator
University of Miami	ALS Association, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), St. Jude Children's Research Hospital

Countries where clinical trial is conducted

United States,  Germany,  South Africa, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Biomarkers	Biomarkers relevant to therapeutic development	24 months
Primary	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
Primary	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