Phenotype, Genotype and Biomarkers 2

Purpose

The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.

Conditions

  • Amyotrophic Lateral Sclerosis
  • Hereditary Spastic Paraplegia
  • Primary Lateral Sclerosis
  • Progressive Muscular Atrophy
  • Frontotemporal Dementia

Eligibility

Eligible Ages
Over 7 Years
Eligible Genders
All
Accepts Healthy Volunteers
Yes

Inclusion Criteria

for affected individuals (primary participants) include: - Clinical diagnosis or suspicion of ALS or a related disorder, including, but not limited to, ALS-FTD, PLS, HSP, FTD, Multisystem Proteinopathy (MSP) and PMA. - Subject is able and willing to comply with study procedures

Exclusion Criteria

for affected individuals (primary participants) include: - Subjects with a condition or who are in a 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 -- including but not limited to neurological, psychological and/or medical conditions Inclusion criteria for biological family members (secondary participants) include: - Family member of an enrolled affected primary participant Exclusion Criteria for biological family members (secondary participants) include: - Subjects with a condition or who are in a 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 -- including but not limited to neurological, psychological and/or medical conditions

Study Design

Phase
Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Arm Groups

ArmDescriptionAssigned Intervention
Primary participants Patients that have or are suspected to have ALS or a related neurodegenerative disease
Secondary Participants Family members of primary participants enrolled in the study

Recruiting Locations

University of Kansas Medical Center
Kansas City, Kansas 66160
Contact:
Osvaldo Plascencia
913-945-9922
oplascencia@kumc.edu

More Details

Status
Recruiting
Sponsor
University of Miami

Study Contact

Michael Benatar, MD, PhD
1-844-837-1031
projectcreate@miami.edu