Diseases Studied

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.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

All Diseases > Progressive Muscular Atrophy

Progressive Muscular Atrophy (PMA)

Disease Category: ALS and Related Disorders

A disorder affecting only lower motor neurons (nerves in the brainstem and spinal cord), characterized by the complete absence of upper motor neuron (nerves in the brain) disease. Lower motor neuron symptoms include hyporeflexia (decreased reflexes), hypotonia (low muscle tone), speech and swallowing problems, and muscle twitching, cramping, weakness, and atrophy (wasting). If this disease progresses to affect upper motor neurons, it becomes an amyotrophic lateral sclerosis (ALS) diagnosis.

Research groups studying this disease

ALS and Related Disorders
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Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe)

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Recruiting

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.