Phenotype, Genotype & Biomarkers in ALS and Related Disorders
Study Purpose:
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.
Disease:
Amyotrophic Lateral Sclerosis (ALS), Familial ALS, Sporadic ALS, Primary Lateral Sclerosis (PLS), Hereditary Spastic Paraplegia (HSP), Healthy Volunteer, Healthy Volunteer with a Family History of ALSStudy Type:
Observational StudyStudy Category:
Diseases, Study Type, Study Status, Phase, GenderStudy Status:
Active, currently recruitingPhase:
Not ApplicableStudy Chair(s)/Principal Investigator(s):
Michael Benatar, University of Miami
Clinicaltrials.gov ID (11 digit #):
NCT02327845Neals Affiliated?
NoCoordinating Center Contact Information
Michael Benatar, MBChB, MS, DPhil; Stacy S. Merritt, MA, CCRP / .(JavaScript must be enabled to view this email address) / 305-243-4015; 305-243-6554
.(JavaScript must be enabled to view this email address) United States
Full Study 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.