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Rare Diseases

Explore clinical trials studying Rare Diseases. Study availability and eligibility vary by location and protocol.

467 public trials 83 recruiting studies

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Rare Diseases trial results

Recruiting

A Research Registry on Aggressive PitNETs

NCT05974696

Conditions: Disease Attributes, Endocrine Gland Neoplasms, Endocrine System Diseases, +6 more
Locations: Hospices Civils de Lyon - Groupement Hospitalier Est Lyon, France

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Recruiting

Evaluation of HEArt invoLvement in Patients With FABRY Disease

NCT03362164

Conditions: Aortic Stenosis, Subvalvular, Aortic Valve Disease, Aortic Valve Stenosis, +43 more
Locations: Wuerzburg University Hospital Würzburg, Bavaria, Germany

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Recruiting

Pyrimethamine, Sulfadiazine, and Leucovorin in Treating Patients With Congenital Toxoplasmosis

NCT00004317

Conditions: Coccidiosis, Communicable Diseases, Disease Attributes, +8 more
Locations: University of Chicago Chicago, Illinois, United States

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Enrolling by Invitation

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

NCT05368038

Conditions: Acid Sphingomyelinase Deficiency, Brain Diseases, Brain Diseases, Metabolic, +65 more
Locations: Maimonides Medical Center Brooklyn, New York, United States

NYU Langone Hospital - Brooklyn Brooklyn, New York, United States

North Shore University Hospital Manhasset, New York, United States

NYU Langone Health - Tisch Hospital New York, United States

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Enrolling by Invitation

Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases

NCT06786754

Conditions: Abnormalities, Multiple, Aneurysm, Aortic Aneurysm, +21 more
Locations: Cardiovascular Genetic Centre IRCCS Policlinico San Donato San Donato Milanese, Milan, Italy

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Enrolling by Invitation

Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542

Conditions: Abnormalities, Multiple, Anxiety Disorders, Arthrogryposis Congenita Multiplex With Intestinal Atresia, +84 more
Locations: Children's National Hospital Washington D.C., District of Columbia, United States

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Enrolling by Invitation

Rare and Undiagnosed Disease Research Biorepository

NCT04703179

Conditions: Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, +3 more
Locations: Mayo Clinic in Arizona Scottsdale, Arizona, United States

Mayo Clinic in Florida Jacksonville, Florida, United States

Mayo Clinic in Rochester Rochester, Minnesota, United States

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Enrolling by Invitation

Structural Chromosome Rearrangements and Brain Disorders

NCT06072079

Conditions: Chromosome Aberrations, Chromosome Abnormality, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +6 more
Locations: Anna Lindstrand Stockholm, Sweden

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Enrolling by Invitation

SLC13A5 Deficiency Natural History Study - United States Only

NCT06144957

Conditions: Brain Diseases, Central Nervous System Diseases, Citrate Transporter Deficiency, +16 more
Locations: Lucille Packard Children's Hospital, Stanford University Palo Alto, California, United States

Brown University Providence, Rhode Island, United States

University of Texas Southwestern Dallas Dallas, Texas, United States

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Enrolling by Invitation

International Registry of Congenital Portosystemic Shunt (IRCPSS)

NCT06041906

Conditions: 46, XX Disorders of Sex Development, Adrenogenital Syndrome, Brain Diseases, +45 more
Locations: Yale University School of Medicine New Haven, Connecticut, United States

Lurie Children's Hospital Chicago, Illinois, United States

Royal Children's Hospital Melbourne Parkville, Victoria, Australia

Universitary Clinics Saint-Luc, UCL Brussels, Belgium

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