Are YOU Interested in Research on Rare Diseases?

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Receive the most current information on:

  • :: open recruitment for clinical studies of your disease
  • :: opening of new clinical sites doing research on rare diseases
  • :: activities from affiliated awareness and advocacy groups

...and future opportunities to participate in research!

YOU can help in the fight against rare diseases

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Maintaining the Relationship Between Patients and Researchers is Vital!

Participation in Research Makes it Possible for Researchers to:

  • :: provide the best possible care to patients affected by rare diseases
  • :: improve methods in studying your disease
  • :: achieve deeper understanding of your disease and its causes
  • :: find new treatments
  • :: create new studies

The RDCRN has over 150 clinical sites available, and is adding more every day! View All Studies >

Network Resources


Rare Diseases Media Center

Angel Flight

RDCRN Research Login

The Rare Diseases Clinical Research Network (RDCRN) is made up of 17 distinctive consortia and a Data Management and Coordinating Center that are working in concert to improve availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community. The RDCRN also aims to provide up-to-date information for patients and to assist in connecting patients with advocacy groups, expert doctors, and clinical research opportunities.

Find the Research Consortium studying your disease or disorder:

Click on a Consortium Name below to view the diseases or disorders being studied by each consortium. Clicking on a disease or disorder name will take you directly to a description of that disease or disorder.

  • [+] Lysosomal Disease Network
    • Aspartylglucosaminuria
    • Batten disease
    • Batten disease: late infantile
    • Bone Disease in the MPS
    • Cystinosis
    • Danon disease
    • Fabry Disease
    • Farber disease
    • Fucosidosis
    • GM1-Gangliosidosis types I/II/III
    • GM2-Gangliosidosis
    • Galactosialidosis types I / II
    • Gaucher disease
    • Glycoproteinoses
    • Hunter syndrome
    • Hurler syndrome
    • I-cell disease
    • Krabbe disease
    • Late Infantile Neuronal Ceroid
    • Lipofuscinosis
    • Maroteaux-Lamy syndrome
    • Metachromatic leukodystrophy
    • Morquio syndrome
    • Mucolipidosis Type IV
    • Mucopolysaccharidoses (MPS)
    • Mucopolysaccharidosis type IX
    • Multiple sulfatase deficiency
    • Niemann-Pick disease
    • Northern Epilepsy
    • Pompe Disease
    • Pycnodysostosis
    • Sandhoff disease
    • Sanfilippo syndrome A
    • Sanfilippo syndrome B
    • Sanfilippo syndrome C
    • Sanfilippo syndrome D
    • Scheie syndrome
    • Schindler disease
    • Sialidosis types I / II
    • Sialuria, Salla disease
    • Sly syndrome
    • Tay-Sachs disease
    • Vogt-Spielmeyer disease
    • Wolman Disease
    • alpha-Mannosidosis types I / II
    • beta-Mannosidosis
    • pseudo-Hurler polydystrophy

Former Partners of the Rare Diseases Clinical Research Network

  • [+] Bone Marrow Failure Consortium (BMFC)
    • Aplastic Anemia
    • Myelodysplastic Syndromes
    • Paroxysmal Nocturnal Hemoglobinuria (PNH)
    • Large Granular Lymphocyte (LGL) Leukemia
    • Single Lineage Cytopenias:
      • Pure Red Cell Aplasia
      • Amegakaryocytic Thrombocytopenic Purpura
      • Autoimmune Neutropenia
  • [+] Clinical Research Consortium for Spinocerebellar Ataxias
    • Spinocerebellar ataxia:
      • Ataxia telangiectasia
      • Ataxia with oculomotor apraxia (AOA) type 1
      • Ataxia with oculomotor apraxia (AOA) type 2
      • Ataxia with vitamin E deficiency (AVED)
      • Ataxia, unknown cause
      • Autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS)
      • Dentatorubral-pallidoluysian atrophy (DRPLA)
      • Fragile X tremor-ataxia syndrome (FXTAS)
      • Friedreich's ataxia
      • GAD ataxia
      • Gluten ataxia
      • Mitochondrial ataxia
      • Mitochondrial recessive ataxia syndrome (MIRAS; POLG mutation)
      • Multiple system atrophy-cerebellar type (MSA-C)
      • Olivopontocerebellar atrophy (OPCA)
      • Paraneoplastic ataxia
      • Spinocerebellar ataxia 1(SCA1)
      • Spinocerebellar ataxia 2(SCA2)
      • Spinocerebellar ataxia 3(SCA3/Machado Joseph disease/MJD)
      • Spinocerebellar ataxia 4(SCA4)
      • Spinocerebellar ataxia 5(SCA5)
      • Spinocerebellar ataxia 6(SCA6)
      • Spinocerebellar ataxia 7(SCA7)
      • Spinocerebellar ataxia 8(SCA8)
      • Spinocerebellar ataxia 10(SCA10)
      • Spinocerebellar ataxia 11(SCA11)
      • Spinocerebellar ataxia 12(SCA12)
      • Spinocerebellar ataxia 13(SCA13)
      • Spinocerebellar ataxia 14(SCA14)
      • Spinocerebellar ataxia 15(SCA15)
      • Spinocerebellar ataxia 16(SCA16)
      • Spinocerebellar ataxia 17(SCA17)
      • Spinocerebellar ataxia 18(SCA18)
      • Spinocerebellar ataxia 19(SCA19)
      • Spinocerebellar ataxia 20(SCA20)
      • Spinocerebellar ataxia 21(SCA21)
      • Spinocerebellar ataxia 22(SCA22)
      • Spinocerebellar ataxia 23(SCA23)
      • Spinocerebellar ataxia 24(SCA24); SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4
      • Spinocerebellar ataxia 25(SCA25)
      • Spinocerebellar ataxia 26(SCA26)
      • Spinocerebellar ataxia 27(SCA27)
      • Spinocerebellar ataxia 28(SCA28)
      • Spinocerebellar ataxia 29(SCA29)
      • Spinocerebellar ataxia 31(SCA31)
      • Sporadic ataxia (onset before 20 years)
      • Sporadic ataxia (onset between 20-50 years)
      • Sporadic ataxia (onset after 50 years)

About the RDCRN

The Rare Diseases Clinical Research Network (RDCRN) was established by the Office of Rare Diseases Research of (NCATS), National Institutes of Health (NIH) to develop research studies for rare diseases, and to encourage cooperative partnerships among researchers at over 150 clinical centers around the world. This increased cooperation may lead to discoveries that will help treat and perhaps prevent these rare diseases, as well as produce medical advances that will benefit the population in general. The Rare Diseases Clinical Research Network is comprised of a Data Management and Coordinating Center and 17 consortia studying over 200 rare diseases. More About the RDCRN >

NIH does not endorse or recommend any commercial products, processes, or services. The views expressed in written materials or publications do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government. Read Disclaimer >