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Conditions: Leiomyomatosis
Interventions: Not listed
Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI); NIH
Eligibility: Not listed
Enrollment: 400 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1998 – 2003
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: DiGeorge Syndrome, Hypoparathyroidism, Complete DiGeorge Syndrome
Interventions: Thymus/Parathyroid Transplantation; Biological
Lead sponsor: Sumitomo Pharma Switzerland GmbH; Industry
Eligibility: Up to 24 Months
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2019
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Kaposiform Hemangioendothelioma (KHE), Kasabach-Merritt Syndrome, Tufted Angioma
Interventions: Vincristine, Sirolimus; Drug
Lead sponsor: Boston Children's Hospital; Other
Eligibility: Up to 31 Years
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2020
U.S. locations: 7
States / cities: Palo Alto, California • Atlanta, Georgia • Baltimore, Maryland + 4 more

Conditions: Autoimmune Hemolytic Anemia
Interventions: Parsaclisib; Drug
Lead sponsor: Incyte Corporation; Industry
Eligibility: 18 Years and older
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2024
U.S. locations: 6
States / cities: Washington D.C., District of Columbia • Minneapolis, Minnesota • St Louis, Missouri + 3 more

Conditions: Lymphatic Malformations, Lymphatic Diseases
Interventions: Sildenafil 20 mg tablets, Placebo tablets (resembling Revatio); Drug · Other
Lead sponsor: Stanford University; Other
Eligibility: 6 Months to 10 Years
Enrollment: 22 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2021
U.S. locations: 3
States / cities: Stanford, California • Aurora, Colorado • Chicago, Illinois

Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 100 Years
Enrollment: 999 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2099
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Mevalonic Aciduria, Mevalonate Kinase Deficiency, Immune System Diseases, Periodic Fever Syndromes, Hereditary, Lipid Metabolism, Inborn Errors
Interventions: Not listed
Lead sponsor: Oregon Health and Science University; Other
Eligibility: Not listed
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2016
U.S. locations: 1
States / cities: Portland, Oregon

Conditions: Microcystic Lymphatic Malformation
Interventions: PTX-022; Drug
Lead sponsor: Palvella Therapeutics, Inc.; Industry
Eligibility: 6 Years and older
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022
U.S. locations: 7
States / cities: Little Rock, Arkansas • Palo Alto, California • Fridley, Minnesota + 4 more

Conditions: Arteriovenous Malformations, Cavernous Angiomas, Brain Aneurysms
Interventions: Doxycycline or Placebo; Drug
Lead sponsor: University of California, San Francisco; Other
Eligibility: 13 Years and older
Enrollment: 33 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2010
U.S. locations: 1
States / cities: San Francisco, California

Conditions: Tuberous Sclerosis, Lymphangioleiomyomatosis
Interventions: RAD001; Drug
Lead sponsor: Children's Hospital Medical Center, Cincinnati; Other
Eligibility: 18 Years to 65 Years
Enrollment: 36 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2013
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: CCM, Cavernoma, Cerebral Cavernous Malformation, Cerebral Cavernous Malformations 1, Cerebral Cavernous Malformations 2, Cerebral Cavernous Malformations 3, Cavernous Angioma
Interventions: Not listed
Lead sponsor: University of Chicago; Other
Eligibility: 18 Years and older
Enrollment: 123 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2022
U.S. locations: 1
States / cities: Chicago, Illinois

Conditions: Neural Tube Defects, Folic Acid Deficiency, Spina Bifida, Anencephaly-Spina Bifida, B12 Deficiency Vitamin, Anemia, Iron Deficiency Anaemia Due to Dietary Causes
Interventions: Micronutrient fortified iodized salt; Dietary Supplement
Lead sponsor: Hydrocephalus and Neuroscience Institute; Other
Eligibility: 18 Years to 45 Years · Female only
Enrollment: 200 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022
U.S. locations: 1
States / cities: Orlando, Florida

Conditions: Hereditary Hemorrhagic Telangiectasia (HHT)
Interventions: Pomalidomide; Drug
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: Not listed
Enrollment: 62 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 11
States / cities: San Diego, California • San Francisco, California • Gainesville, Florida + 8 more

Conditions: PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations, Vascular Malformations, PIK3CA Mutation, CLOVES Syndrome, Klippel Trenaunay Syndrome, Megalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP), Vascular Anomalies
Interventions: RLY-2608, Placebo; Drug
Lead sponsor: Relay Therapeutics, Inc.; Industry
Eligibility: 2 Years and older
Enrollment: 277 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2031
U.S. locations: 20
States / cities: Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 17 more

Conditions: DiGeorge Anomaly, DiGeorge Syndrome, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions: Cultured Thymus Tissue Implantation (CTTI), Cultured Thymus Tissue Implantation with Parathyroid Transplantation; Biological · Other
Lead sponsor: Sumitomo Pharma Switzerland GmbH; Industry
Eligibility: Not listed
Enrollment: 7 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2004 – 2019
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Lymphatic Malformations
Interventions: OK432; Drug
Lead sponsor: Richard JH Smith; Other
Eligibility: 6 Months to 17 Years
Enrollment: 275 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2005 – 2018
U.S. locations: 14
States / cities: San Diego, California • Denver, Colorado • Washington D.C., District of Columbia + 11 more

Conditions: DiGeorge Syndrome, Congenital Heart Defects
Interventions: Not listed
Lead sponsor: Children's Healthcare of Atlanta; Other
Eligibility: Up to 15 Years
Enrollment: 400 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1998 – 2008
U.S. locations: 1
States / cities: Atlanta, Georgia

Conditions: MPN (Myeloproliferative Neoplasms)
Interventions: Parsaclisib, Ruxolitinib; Drug
Lead sponsor: Incyte Corporation; Industry
Eligibility: 18 Years and older
Enrollment: 74 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2022
U.S. locations: 39
States / cities: Birmingham, Alabama • Scottsdale, Arizona • Berkeley, California + 33 more

Conditions: Hereditary Hemorrhagic Telangiectasia (HHT)
Interventions: Submucosal Bevacizumab; Drug
Lead sponsor: University of California, San Diego; Other
Eligibility: 18 Years and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2013
U.S. locations: 1
States / cities: San Diego, California

Conditions: Lymphangiomatosis, Lymphedema, Lymphangiectasia, Pulmonary Lymphangiectasia
Interventions: Not listed
Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI); NIH
Eligibility: 2 Years to 90 Years
Enrollment: 14 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2024
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Congenital Disorders
Interventions: Not listed
Lead sponsor: Children's Healthcare of Atlanta; Other
Eligibility: Up to 6 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1967 – 2006
U.S. locations: 1
States / cities: Atlanta, Georgia

Conditions: 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X, Sex Chromosome Abnormalities, Cri-du-Chat Syndrome, Angelman Syndrome, Prader-Willi Syndrome, 1p36 Deletion Syndrome
Interventions: Not listed
Lead sponsor: Natera, Inc.; Industry
Eligibility: 18 Years to 48 Years · Female only
Enrollment: 20,960 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2020
U.S. locations: 16
States / cities: San Francisco, California • Camden, New Jersey • Mount Laurel, New Jersey + 10 more

Conditions: Lung Disease, Pneumothorax, Tuberous Sclerosis, Lymphangioleiomyomatosis
Interventions: Toshibia Aquilion One CT; Device
Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI); NIH
Eligibility: 16 Years to 100 Years
Enrollment: 2,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1995
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Arteriovenous Malformation, Hereditary Hemorrhagic Telangiectasia, Hematochezia, Melena
Interventions: Thalidomide; Drug
Lead sponsor: Northport Veterans Affairs Medical Center; Federal
Eligibility: 18 Years and older
Enrollment: 14 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2011
U.S. locations: 3
States / cities: Augusta, Georgia • Worcester, Massachusetts • Northport, New York

Search by objective public record fields.

Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM)

Parathyroid and Thymus Transplantation in DiGeorge #931

A Study to Compare Vincristine to Sirolimus for Treatment of High Risk Vascular Tumors

A Study of INCB050465 in Participants With Autoimmune Hemolytic Anemia

Sildenafil for the Treatment of Lymphatic Malformations

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency

Study Evaluating the Safety and Efficacy of PTX-022 (QTORIN Sirolimus) in the Treatment of Microcystic Lymphatic Malformations

Influence of MMP on Brain AVM Hemorrhage

RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM

CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness

Using Iodized Salt to Improve Serum Folate, B12 and Iron Levels

Pomalidomide for the Treatment of Bleeding in Hereditary Hemorrhagic Telangiectasia Longitudinal Assessment Study

A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)

Thymus Transplantation Dose in DiGeorge #932

OK432 (Picibanil) in the Treatment of Lymphatic Malformations

Infection in DiGeorge Following CHD Surgery

A Study of INCB050465 in Combination With Ruxolitinib in Subjects With Myelofibrosis

Submucosal Bevacizumab for the Management of Recurrent Epistaxis in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)

Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders

Prevalence and Clinical Spectrum of the 22q11 Deletion

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

Study of the Disease Process of Lymphangioleiomyomatosis

Thalidomide Reduces Arteriovenous Malformation Related Gastrointestinal Bleeding