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Rare Diseases Clinical Research Consortia Supported by NICHD

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Overview

Rare Clinical Diseases Research Network logoThe Rare Disease Act of 2002 (P.L. 107-280) directed the NIH Office of Rare Diseases Research (ORDR) to establish a Rare Diseases Clinical Research Network (RDCRN) External Web Site Policy—a collaborative, cooperative network of investigators and patient groups in partnership with technology leaders that focuses on studying rare diseases to enhance communication and resource sharing via a multidisciplinary approach. The first competition for the RDCRC in 2003 established eight funded consortia using the U54 mechanism.

In 2014, the entire program was recompeted under the auspices of the National Center for Advancing Translational Sciences (NCATS), the new home for the NIH ORDR, with a total of 22 consortia receiving funding to study more than 200 rare diseases in collaboration with 98 patient advocacy groups. 

In partnership with NCATS and other Institutes at NIH, NICHD—through its Intellectual and Developmental Disabilities Branch (IDDB)—supports the following consortia.

Current NICHD-Supported Consortia

Brittle Bone Disorders Consortium

Brittle Bone Disorders Consortium logoThe Brittle Bone Disorders Consortium focuses on understanding and providing better therapeutic options for osteogenesis imperfecta, which describes conditions associated with bones that break easily and can cause deformity, chronic pain and death.

This Consortium encompasses 13 inherited bone fragility conditions. It is co-funded by the NICHD, NIAMS, and NIDCR.

Visit https://www.rarediseasesnetwork.org/BBD/index.htm External Web Site Policy for more information.

Developmental Synaptopathies Constorium

The Developmental Synaptopathies Consortium focuses on synaptopathies associated with tuberous sclerosis complex (TSC), PTEN Hamartoma Tumor Syndrome (caused by PTEN mutations), and Phelan-McDermid syndrome (caused by SHANK3 mutations). These three conditions that share features of autism spectrum disorder and intellectual disability as well as common genetic pathways.

Understanding the clinical features of these conditions, developing imaging biomarkers, and creating a biospecimen repository will be goals of this new Consortium, in addition to a clinical trial to treat those with PTEN mutations.

This Consortium is co-funded by the NICHD and the NINDS. Visit https://www.rarediseasesnetwork.org/DSC/index.htm External Web Site Policy for more information.

North American Mitochondrial Disease Consortium (NAMDC)

North American Mitochondrial Disease Consortium (NAMDC)Mitochondrial diseases affect approximately 1 in every 5,000 people. They can cause muscle weakness, cognitive impairment, seizures, hearing and vision loss, stomach problems, learning disabilities, and organ failure.

The NAMDC is a network of clinicians and researchers working to better understand mitochondrial conditions, improve diagnosis, and develop treatments for these disorders.

This Consortium is co-funded by the NINDS and the NIH ORDR.

Rett and MECP2-Related Disorders Consortium

Rett Consortium logoThe Rett and MeCP2-Related Disorders Consortium studies three distinct disorders: Rett syndrome (RTT), MECP2 duplication disorder, and RTT-related disorders that are caused by CDKL5 and FOXG1 mutations and have similar phenotypes to RTT.

Substantial understanding of the molecular basis of these disorders through this Consortium will better discriminate the clinical expression of these mutations and identify treatments that may improve the function of affected individuals. This Consortium is co-funded by NICHD and NINDS. Visit https://www.rarediseasesnetwork.org/Rett/index.htm External Web Site Policy for more information.

Sterol & Isoprenoid Research (STAIR) Consortium  

Sterol & Isoprenoid Research (STAIR) Consortium logoThe STAIR Consortium studies disorders related to cholesterol and other sterol and isoprenoid metabolism. These diseases share common biochemistry, impact on health, and rarity.

Diseases studied by the Consortium include Smith-Lemli-Opitz syndrome (SLOS) External Web Site Policy, Niemann-Pick disease type C (NPC) External Web Site Policy, Sjögren-Larsson syndrome (SLS) External Web Site Policy, mevalonate kinase deficiency (MKD) External Web Site Policy, sitosterolemia, and cerebrotendinous xanthomatosis External Web Site Policy.

Urea Cycle Disorders Consortium

Urea Cycle Disorders Consortium logoThe Urea Cycle Disorders Consortium examines disorders that affect the body’s urea cycle, which regulates the metabolic process of converting wastes from the breakdown of food into urea that is excreted in urine. In urea cycle disorders, these wastes build up in the blood and cause neurological and other developmental problems. 

Natural history studies of the 8 urea cycle disorders, use of neuroimaging and neuropsychology tests to understand brain function, and a clinical trial are planned for the next cycle.

Past NICHD-Supported Consortia

Angelman, Rett, and Prader-Willi Syndromes Consortium (2004-2014)

The Angelman, Rett, and Prader-Willi Syndromes Consortium studied various aspects of the neurodevelopmental diseases: Angelman syndrome, Rett syndrome, and Prader-Willi syndrome. In addition to cognitive and developmental problems common to all three conditions and some shared mechanisms, each syndrome has unique symptoms and natural history.

Visit https://www.rarediseasesnetwork.org/about/rdcrnpast.htm External Web Site Policy for more information about this Consortium.

More Information

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