Clinical Trial: Phenotype, Genotype & Biomarkers in ALS and Related Disorders

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Phenotype, Genotype & Biomarkers in ALS and Related Disorders

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 Summary: 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.
Sponsor: University of Miami

Current Primary Outcome:

• 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.

Original Primary Outcome:

• Phenotypic correlates of genotype [ Time Frame: 24 months ]
  Longitudinal deep phenotypic data in patients with defined genetic mutations
• Genetic determinants of phenotype [ Time Frame: 24 months ]
  Genetic variants associated with identifiable phenotypic features

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Miami

Dates:
Date Received: December 24, 2014
Date Started: April 2015
Date Completion: August 2019
Last Updated: November 15, 2016
Last Verified: November 2016