Study Summary
The PGB2 (Phenotype-Genotype and Biomarker) Study of the CReATe Consortium will prospectively and systematically study approximately 300 patients with amyotrophic lateral sclerosis (ALS) or a related neurodegenerative disorder such as ALS-frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and multisystem proteinopathy (MSP). The study is broadly inclusive, enrolling patients with both familial and sporadic forms of disease. All enrolled patients will undergo five in-person evaluations at one of the CReATe consortium clinical sites as well as annual remote evaluations. In-person evaluations will include motor, cognitive and functional assessments as well as collection of biological fluids. Remote evaluations will focus on functional status and disease staging. Family members of patients with apparently sporadic disease (i.e. no family history) may also participate through a remote-evaluation process in which they provide limited information about their medical history as well as biological samples (blood and urine). Every effort will be made to integrate study procedures into multi-disciplinary clinic visits to minimize the burden of participation on patients and their families.
For Diseases
- Amyotrophic lateral sclerosis (ALS)
- Frontotemporal dementia (FTD)
- Primary lateral sclerosis (PLS)
- Progressive muscular atrophy (PMA)
- Hereditary Spastic Paraplegia (HSP)
- Multi-System Proteinopathy (MSP)
Background
There are several goals of this study which are to better understand the phenotype-genotype relationship in ALS and related disorders, as well as the potential impact of environment exposures. Also to develop biomarkers that might be useful in aiding therapy development for this group of disorders and validate the first ALS-specific patient reported outcome measure for use in future clinical trials. Lastly, to evaluate the utility of blood-based measurements of neurofilaments for the diagnosis of ALS.
Study participants with ALS or a related disease will have 2 in-person visits to:
Enrollment Criteria
Primary participants:
- Clinical diagnosis (or suspicion) of ALS or a related disorder, including progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and multi-system proteinopathy (MSP)
- Able and willing to comply with study procedures
Secondary participants:
- Family members (both affected and unaffected) of primary participants
How to Participate:
In order to participate in this study, please contact the study coordinator at one of the participating institutions by phone or by e-mail.
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.