Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Hereditary Spastic Paraplegia, Multisystem Proteinopathy, Primary Lateral Sclerosis, Progressive Muscular Atrophy
Conditions
Keywords
natural history, biomarkers, phenotype, genotype
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 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.
Interventions
None listed
Sponsors
University of Miami
National Institute of Neurological Disorders and Stroke (NINDS)
National Center for Advancing Translational Sciences (NCATS)
St. Jude Children's Research Hospital
ALS Association
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Phenotypic correlates of genotype | 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 | 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. |
Countries
Germany, South Africa, United States
Contacts
PRINCIPAL_INVESTIGATORMichael Benatar, DPhil
University of Miami
Outcome results
None listed