Phenotype, Genotype & Biomarkers in ALS and Related Disorders

University of Miami

Status

Invitation-only

Conditions

Primary Lateral Sclerosis

Frontotemporal Dementia

Hereditary Spastic Paraplegia

Amyotrophic Lateral Sclerosis

Progressive Muscular Atrophy

Multisystem Proteinopathy

Study type

Observational

Funder types

Other

NIH

Identifiers

NCT02327845

U54NS092091 (U.S. NIH Grant/Contract)

20160603

Details and patient eligibility

About

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.

Full 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.

Enrollment

700 estimated patients

Sex

All

Volunteers

Accepts Healthy Volunteers

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.