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Showing 1–24 of 188 matching trials from the live ClinicalTrials.gov search.
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Conditions
Achondroplasia
Interventions
BMN 111, Placebo
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
5 Years to 18 Years
Enrollment
121 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
11
States / cities
Oakland, California • Torrance, California • Wilmington, Delaware + 8 more
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
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
Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia, Chronic Myeloid Leukemia, Myelodysplastic Syndrome, Lymphomas, Bone Marrow Failure, Hemoglobinopathy, Immune Deficiency, Osteopetrosis, Cytopenias, Leukocyte Disorders, Anemia Due to Intrinsic Red Cell Abnormality
Interventions
CD34+ enriched, T Cell Depleted donor stem cell product
Biological
Lead sponsor
Christopher Dvorak
Other
Eligibility
2 Months to 30 Years
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
San Francisco, California
Conditions
Exostoses, Multiple Hereditary
Interventions
Palovarotene 2.5 mg, Palovarotene 5.0 mg, Placebo
Drug · Other
Lead sponsor
Clementia Pharmaceuticals Inc.
Industry
Eligibility
2 Years to 14 Years
Enrollment
193 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
13
States / cities
Los Angeles, California • Sacramento, California • San Francisco, California + 9 more
Conditions
Gastrointestinal, Colic
Interventions
Lactobacillus reuteri, Placebo
Biological
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
3 Weeks to 3 Months
Enrollment
21 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2016
U.S. locations
1
States / cities
Houston, Texas
Conditions
Osteogenesis Imperfecta
Interventions
SAR439459, Placebo
Drug
Lead sponsor
Sanofi
Industry
Eligibility
18 Years to 65 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
7
States / cities
Los Angeles, California • New Haven, Connecticut • Indianapolis, Indiana + 4 more
Conditions
McCune Albright Syndrome, Polyostotic Fibrous Dysplasia, Precocious Puberty
Interventions
Letrozole
Drug
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
1 Year to 8 Years · Female only
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Glycoprotein Metabolic Disorders, Sphingolipidoses, Recessive Leukodystrophies, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Niemann-Pick B, Niemann-Pick C Subtype 2, Sphingomyelin Deficiency, Peroxisomal Disorders, Adrenoleukodystrophy With Cerebral Involvement, Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Acyl-CoA Oxidase Deficiency, D-Bifunctional Enzyme Deficiency, Multifunctional Enzyme Deficiency, Alpha-methylacyl-CoA Racmase Deficiency, Mitochondrial Neurogastrointestingal Encephalopathy, Severe Osteopetrosis, Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation), Inherited Metabolic Disorders
Interventions
Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen, Osteopetrosis Haploidentical Only Preparative Regimen, cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B), cALD HR-D (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D)
Biological · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
149 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2029
U.S. locations
1
States / cities
Minneapolis, Minnesota
Completed No phase listed Observational Accepts healthy volunteers

Evaluation and Treatment of Patients With Connective Tissue Disease

NCT00076830
Conditions
Connective Tissue Disorders, Osteogenesis Imperfecta, Bone Diseases, Metabolic, Melorheostosis
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Up to 70 Years
Enrollment
180 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 2004
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Breast Neoplasms, Prostate Neoplasms, Neoplasms, Squamous Cell, Melanoma, Mesothelioma, Pancreatic Neoplasms, Colorectal Neoplasms, Carcinoma, Renal Cell, Liver Neoplasms
Interventions
PF-06952229, Enzalutamide
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years and older
Enrollment
49 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
15
States / cities
Scottsdale, Arizona • Santa Monica, California • Boston, Massachusetts + 6 more
Conditions
Polyostotic Fibrous Dysplasia
Interventions
Not listed
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
1996 – 2008
U.S. locations
1
States / cities
Bethesda, Maryland
Completed Phase 2 Interventional Results available

Use of ACTIMMUNE in Patients With ADO2

NCT02584608
Conditions
Autosomal Dominant Osteopetrosis Type 2
Interventions
ACTIMMUNE
Drug
Lead sponsor
Indiana University
Other
Eligibility
3 Years to 65 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
Indianapolis, Indiana
Conditions
Achondroplasia
Interventions
BMN 333, Vosoritide Injection [Voxzogo]
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
2 Years to 17 Years
Enrollment
160 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2029
U.S. locations
9
States / cities
Oakland, California • Wilmington, Delaware • Chicago, Illinois + 6 more
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Pregabalin and Colonic Function

NCT01094808
Conditions
Healthy
Interventions
Pregabalin, Placebo, Bowel preparation
Drug · Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years to 75 Years
Enrollment
62 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2011
U.S. locations
1
States / cities
Rochester, Minnesota
Conditions
Osteogenesis Imperfecta
Interventions
Zoledronic Acid
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
1 Year to 17 Years
Enrollment
127 participants
Timeline
2004 – 2007
U.S. locations
10
States / cities
Los Angeles, California • Wilmington, Delaware • Boise, Idaho + 7 more
Conditions
Advanced Solid Tumor, Refractory Hodgkin Lymphoma
Interventions
HCB301
Drug
Lead sponsor
FBD Biologics Limited
Industry
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
1
States / cities
Greenville, South Carolina
Conditions
Achondroplasia
Interventions
Active BMN 111: Subcutaneous injection of recommended dose of BMN 111 based on weight-band dosing once daily.
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
15 Months and older
Enrollment
73 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2038
U.S. locations
9
States / cities
Oakland, California • Torrance, California • Wilmington, Delaware + 6 more
Terminated Phase 2 Interventional Results available

Reduced Intensity AlloTransplant For Osteopetrosis

NCT00638820
Conditions
Osteopetrosis
Interventions
Stem Cell or Umbilical Cord Blood Transplantation, Campath, Busulfan, Clofarabine, Total Lymphoid Irradiation
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 45 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
1
States / cities
Minneapolis, Minnesota
Conditions
Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease
Interventions
There is no intervention
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
Up to 64 Years
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2050
U.S. locations
1
States / cities
San Francisco, California
Conditions
Locally Advanced or Metastatic Cancers, Metastatic Human Papillomavirus-Related Malignant Neoplasm
Interventions
TST005
Drug
Lead sponsor
Suzhou Transcenta Therapeutics Co., Ltd.
Industry
Eligibility
18 Years and older
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
3
States / cities
Canton, Ohio • Dallas, Texas • San Antonio, Texas
Conditions
MPS I, MPS II, MPS IVA, MPS VI, Mps VII, Gaucher Disease, Type 2, Gaucher Disease, Type 3, Pompe Disease Infantile-Onset, Wolman Disease
Interventions
Aldurazyme (laronidase)
Drug
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2032
U.S. locations
1
States / cities
San Francisco, California
Active, not recruiting No phase listed Observational

Dental Malocclusion and Craniofacial Development in OI

NCT02934451
Conditions
Osteogenesis Imperfecta
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
10 Years to 100 Years
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2027
U.S. locations
2
States / cities
Los Angeles, California • Houston, Texas
Conditions
Achondroplasia
Interventions
Recifercept
Biological
Lead sponsor
Pfizer
Industry
Eligibility
3 Months to 10 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
6
States / cities
Aliso Viejo, California • Irvine, California • Long Beach, California + 3 more
Conditions
Osteogenesis Imperfecta (OI)
Interventions
AGA2115, Placebo
Drug · Other
Lead sponsor
Angitia Incorporated Limited
Industry
Eligibility
18 Years to 75 Years
Enrollment
80 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
9
States / cities
Phoenix, Arizona • New Haven, Connecticut • Wilmington, Delaware + 6 more