Phenotype, Genotype & Biomarkers in ALS and Related Disorders
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.
- Amyotrophic Lateral Sclerosis
- Frontotemporal Dementia
- Primary Lateral Sclerosis
- Hereditary Spastic Paraplegia
- Progressive Muscular Atrophy
- Multisystem Proteinopathy
- Eligible Ages
- All ages
- Eligible Genders
- Accepts Healthy Volunteers
- Member of at least one of the following categories:
- Individuals with a clinical diagnosis of ALS or a related disorder, including FTD, HSP, PLS, PMA and MSP (sporadic or familial).
- Family member of an enrolled affected individual.
- Able and willing to comply with relevant procedures.
- 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.
- Study Type
- Observational Model
- Time Perspective
|Affected||Affected with any of the diseases that are the focus of study by the CReATe Consortium, including ALS, ALS-FTD, HSP, PLS, PMA and MSP.|
|Unaffected||Unaffected family members of enrolled affected individuals.|
- University of Miami
Study ContactMichael Benatar, DPhil
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.