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
Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe)
8002: Clinical Procedures To Support Research (CAPTURE-ALS)
The purpose of the Clinical Procedures To Support Research (CAPTURE) study is to utilize information collected in the medical record to learn more about a disease called amyotrophic lateral sclerosis (ALS) and related disorders.
8009: TRIAL READY
This study, being conducted under the auspice of the CReATe Consortium, will enroll patients with ALS and related disorders as well as healthy controls, with the goal of facilitating clinical validation of leading biological-fluid based biomarker candidates that may aid therapy development for patients with ALS and related disorders.
8011: Phenotype, Genotype and Biomarkers 2 (PGB2)
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.
Muscular Dystrophy Association
Supports efforts to transform the lives of people with muscular dystrophy, ALS, and related neuromuscular diseases.