The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis (ALS)
Alternative Names: Lou Gehrig's Disease (ALS)
Disease Category: ALS and Related Disorders
Amyotrophic lateral sclerosis (ALS), also referred to as Lou Gehrig's Disease, is a progressive motor neuron disease that leads to problems with muscle control and movement. Various types of ALS are distinguished by symptoms and, in some cases, genetic cause. The Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium conducts research in the sporadic and familial forms of amyotrophic lateral sclerosis, frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and progressive muscular atrophy (PMA).
Research groups studying this disease
ALS and Related Disorders
Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe)View Disease Definition
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.
Supports efforts to transform the lives of people with muscular dystrophy, ALS, and related neuromuscular diseases.
Aims to improve the quality of life of people affected by frontotemporal degeneration (FTD) and drive research to a cure.
Supports research to cure two similar upper motor neurological diseases: hereditary spastic paraplegia and primary lateral sclerosis.
Focuses on care, advocacy, and research to discover treatments and a cure for ALS while empowering those affected to live life to the fullest.