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Conditions: Wilson Disease
Interventions: tetrathiomolybdate, trientine; Drug
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 0 Years and older
Enrollment: 90 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1994
U.S. locations: 1
States / cities: Ann Arbor, Michigan

Conditions: Kartagener Syndrome, Cystic Fibrosis, Pseudohypoaldosteronism, Primary Ciliary Dyskinesia
Interventions: Not listed
Lead sponsor: University of North Carolina, Chapel Hill; Other
Eligibility: Not listed
Enrollment: 367 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2012
U.S. locations: 7
States / cities: Palo Alto, California • Denver, Colorado • Bethesda, Maryland + 3 more

Conditions: Alpha 1-Antitrypsin Deficiency
Interventions: Not listed
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 0 Years and older
Enrollment: 160 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1999
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Adrenocortical Carcinoma, Gastrointestinal Carcinoid Tumor, Kidney Cancer, Neuroblastoma, Retinoblastoma, Sarcoma
Interventions: Seneca Valley virus-001, cyclophosphamide, laboratory biomarker analysis, pharmacological study; Biological · Drug · Other
Lead sponsor: Children's Oncology Group; Network
Eligibility: 3 Years to 21 Years
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2009
U.S. locations: 18
States / cities: Birmingham, Alabama • Orange, California • San Francisco, California + 15 more

Conditions: Cholangitis, Sclerosing, Liver Cirrhosis, Biliary
Interventions: budesonide; Drug
Lead sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); NIH
Eligibility: 18 Years to 70 Years
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1997 – 1999
U.S. locations: 1
States / cities: Rochester, Minnesota

Conditions: Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions: Family Centered pediatric palliative care for family caregivers of children with rare diseases.; Behavioral
Lead sponsor: Children's National Research Institute; Other
Eligibility: 12 Months to 99 Years
Enrollment: 480 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2025 – 2029
U.S. locations: 1
States / cities: Washington D.C., District of Columbia

Conditions: Cystic Fibrosis
Interventions: growth hormone; Drug
Lead sponsor: University of Utah; Other
Eligibility: 5 Years to 12 Years
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2001
U.S. locations: 9
States / cities: Phoenix, Arizona • Orange, California • Indianapolis, Indiana + 6 more

Conditions: Alpha 1-Antitrypsin Deficiency, Emphysema, COPD
Interventions: Placebo Oral Tablet, Alvelestat oral tablet - dose 1, Alvelestat oral tablet - dose 2; Drug
Lead sponsor: Mereo BioPharma; Industry
Eligibility: 18 Years to 75 Years
Enrollment: 99 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2022
U.S. locations: 4
States / cities: Birmingham, Alabama • Los Angeles, California • Sacramento, California + 1 more

Conditions: Congenital Portosystemic Shunt, CPSS (Congenital Portosystemic Shunt)
Interventions: Shunt Closure; Procedure
Lead sponsor: Prof. Valérie Mc Lin; Other
Eligibility: 1 Day and older
Enrollment: 500 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2028
U.S. locations: 2
States / cities: New Haven, Connecticut • Chicago, Illinois

Conditions: Pancreatitis, Chronic, Sarcoidosis, VCP Disease, Long COVID, PCD, Symptoms and Signs, Wearables
Interventions: Observational - no intervention; Other
Lead sponsor: 4YouandMe; Other
Eligibility: 14 Years and older
Enrollment: 239 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025
U.S. locations: 1
States / cities: New York, New York

Conditions: Cystic Fibrosis, Gastrointestinal Diseases, Cholestasis
Interventions: ursodiol; Drug
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 4 Months and older
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1995
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: Cystic Fibrosis
Interventions: glucose, insulin, leucine; Drug
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 0 Years and older · Female only
Enrollment: 36 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 2001
U.S. locations: 1
States / cities: Salt Lake City, Utah

Conditions: Cholestasis
Interventions: tauroursodeoxycholic acid; Drug
Lead sponsor: Children's Hospital Medical Center, Cincinnati; Other
Eligibility: Up to 20 Days
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1998 – 2002
U.S. locations: 3
States / cities: Minneapolis, Minnesota • Jackson, Mississippi • Cincinnati, Ohio

Conditions: Advanced Solid Tumor
Interventions: BNT326, Pumitamig, Itraconazole, Paroxetine; Drug
Lead sponsor: BioNTech SE; Industry
Eligibility: 18 Years and older
Enrollment: 1,438 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2030
U.S. locations: 19
States / cities: Phoenix, Arizona • San Francisco, California • Hartford, Connecticut + 15 more

Conditions: Erythropoietic Protoporphyria (EPP)
Interventions: Not listed
Lead sponsor: University of Alabama at Birmingham; Other
Eligibility: 7 Years and older
Enrollment: 150 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2020
U.S. locations: 1
States / cities: Birmingham, Alabama

Conditions: Cystic Fibrosis
Interventions: Not listed
Lead sponsor: George Solomon; Other
Eligibility: 17 Years and older
Enrollment: 500 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2028
U.S. locations: 1
States / cities: Birmingham, Alabama

Conditions: Appendix Cancer, Pseudomyxoma Peritonei
Interventions: Not listed
Lead sponsor: Appendix Cancer Pseudomyxoma Peritonei Research Foundation; Other
Eligibility: Not listed
Enrollment: 10,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2030
U.S. locations: 1
States / cities: Springfield, Pennsylvania

Conditions: Alagille Syndrome, Cholestasis, Biliary Atresia
Interventions: magnesium gluconate, magnesium sulfate; Drug
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 3 Years to 18 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2000
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: Cystic Fibrosis
Interventions: Not listed
Lead sponsor: University of Utah; Other
Eligibility: 18 Years to 30 Years
Enrollment: 39 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 2001
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
Interventions: Confirmatory Testing; Diagnostic Test
Lead sponsor: RTI International; Other
Eligibility: 1 Day to 31 Days
Enrollment: 30,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2018 – 2026
U.S. locations: 1
States / cities: Research Triangle Park, North Carolina

Conditions: Porphyria Cutanea Tarda
Interventions: Not listed
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 0 Years and older
Enrollment: 120 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2000
U.S. locations: 1
States / cities: Galveston, Texas

Conditions: Childhood Germ Cell Tumor, Extragonadal Germ Cell Tumor, Head and Neck Cancer, Kidney Cancer, Liver Cancer, Lymphoma, Neuroblastoma, Ovarian Cancer, Retinoblastoma, Sarcoma, Testicular Germ Cell Tumor
Interventions: filgrastim, carboplatin, thiotepa, topotecan hydrochloride, autologous bone marrow transplantation, bone marrow ablation with stem cell support, in vitro-treated bone marrow transplantation; Biological · Drug · Procedure
Lead sponsor: Memorial Sloan Kettering Cancer Center; Other
Eligibility: Up to 21 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1992 – 2005
U.S. locations: 1
States / cities: New York, New York

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Study of Tetrathiomolybdate in Patients With Wilson Disease

Rare Genetic Disorders of the Breathing Airways

Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency

Seneca Valley Virus-001 and Cyclophosphamide in Treating Young Patients With Relapsed or Refractory Neuroblastoma, Rhabdomyosarcoma, or Rare Tumors With Neuroendocrine Features

Pilot Study of Budesonide for Patients With Primary Sclerosing Cholangitis

Palliative Care Needs of Children With Rare Diseases and Their Families

Phase II Study of Growth Hormone in Children With Cystic Fibrosis

A 12-week Study Treating Participants Who Have alpha1-antitrypsin-related COPD With Alvelestat (MPH966) or Placebo.

International Registry of Congenital Portosystemic Shunt (IRCPSS)

CZI Rare As One: Co-designing an App and Wearable Based Compass for Rare Diseases

Phase II Pilot Study to Compare the Bioavailability of Buffered, Enteric-Coated Ursodiol With Unmodified Ursodiol for Chronic Cholestatic Liver Disease and Cystic Fibrosis-Associated Liver Disease

Study of Metabolic Effects of Pregnancy in Women With Cystic Fibrosis

Randomized Study of Tauroursodeoxycholic Acid in Prophylactic Therapy of Total Parenteral Nutrition Associated Cholestasis in Infants

A Clinical Study to Test if an Investigational Treatment Called BNT326 is Safe and Potentially Beneficial When Used Alone or in Combination With Other Investigational Treatments Such as BNT327, for People With Advanced Malignant Tumors

Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))

Rare CFTR Mutation Cell Collection Protocol (RARE)

The Appendix Cancer PMP Research Foundation Natural History Study/Patient Registry

Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease

Study of Hepatic Glucose Production and De Novo Lipogenesis in Patients With Cystic Fibrosis

Early Check: Expanded Screening in Newborns

Study of the Pathogenesis of Porphyria Cutanea Tarda

Combination Chemotherapy Followed by Bone Marrow Transplantation in Treating Patients With Rare Cancer