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Conditions: Williams Syndrome, Cardiovascular Disease, Multisystem Developmental Disorder, Elastin Gene Deletion, Hypertension
Interventions: Not listed
Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI); NIH
Eligibility: 1 Year to 70 Years
Enrollment: 43 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple, Conotruncal Cardiac Defects
Interventions: Not listed
Lead sponsor: National Center for Research Resources (NCRR); NIH
Eligibility: 0 Years and older
Enrollment: 11 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1995
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

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: 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: Smith-Magenis Syndrome (SMS)
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 115 Years
Enrollment: 593 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2001
U.S. locations: 1
States / cities: Bethesda, Maryland

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: Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12), Adult Acute Myeloid Leukemia With t(16;16)(p13;q22), Adult Acute Myeloid Leukemia With t(8;21)(q22;q22), de Novo Myelodysplastic Syndromes, Myelodysplastic Syndrome With Isolated Del(5q), Previously Treated Myelodysplastic Syndromes, Recurrent Adult Acute Myeloid Leukemia
Interventions: Sirolimus, Azacitidine; Drug
Lead sponsor: Sidney Kimmel Comprehensive Cancer Center at Thomas Jefferson University; Other
Eligibility: 18 Years and older
Enrollment: 57 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2024
U.S. locations: 5
States / cities: Sewell, New Jersey • Abington, Pennsylvania • Philadelphia, Pennsylvania

Conditions: Alagille Syndrome
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: Not listed
Enrollment: 225 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1997 – 2000
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: 22q11 Deletion Syndrome
Interventions: NB-001, Placebo; Drug · Other
Lead sponsor: Nobias Therapeutics, Inc.; Industry
Eligibility: 6 Years to 17 Years
Enrollment: 37 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2023
U.S. locations: 3
States / cities: Aurora, Colorado • Philadelphia, Pennsylvania • Seattle, Washington

Conditions: RAI1 Gene 17P11.2 Deletion+Duplication
Interventions: Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy, Blood draw; Diagnostic Test · Procedure
Lead sponsor: Baylor College of Medicine; Other
Eligibility: 1 Month to 80 Years
Enrollment: 90 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2024 – 2027
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Developmental Delay Disorders, Chromosome Deletion, Mental Retardation, Sleep Disorders, Circadian Rhythm, Self Injurious Behavior
Interventions: dTR Melatonin (NIH CC PDS), Phototherapy (Bright Light), Melatonin CR; Drug · Device
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 3 Years to 45 Years
Enrollment: 23 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2018
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Loss of Chromosome 17p, Recurrent Plasma Cell Myeloma
Interventions: Dexamethasone, Idasanutlin, Ixazomib Citrate, Laboratory Biomarker Analysis, Pharmacological Study; Drug · Other
Lead sponsor: Mayo Clinic; Other
Eligibility: 18 Years and older
Enrollment: 33 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2022
U.S. locations: 8
States / cities: Duarte, California • Jacksonville, Florida • Atlanta, Georgia + 5 more

Conditions: Chronic Lymphocytic Leukemia
Interventions: ISF35; Biological
Lead sponsor: Memgen, LLC; Industry
Eligibility: 18 Years and older
Enrollment: 13 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2013
U.S. locations: 1
States / cities: San Diego, California

Conditions: Hypoparathyroidism, DiGeorge Syndrome
Interventions: PTH 1-34; Drug
Lead sponsor: National Institute of Dental and Craniofacial Research (NIDCR); NIH
Eligibility: 18 Years to 70 Years
Enrollment: 46 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2017
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Accelerated Phase Chronic Myelogenous Leukemia, Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome, Acute Undifferentiated Leukemia, Adult Acute Lymphoblastic Leukemia in Remission, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12), Adult Acute Myeloid Leukemia With t(16;16)(p13;q22), Adult Acute Myeloid Leukemia With t(8;21)(q22;q22), Adult Grade III Lymphomatoid Granulomatosis, Adult Langerhans Cell Histiocytosis, Adult Nasal Type Extranodal NK/T-cell Lymphoma, Aggressive NK-cell Leukemia, AIDS-related Diffuse Large Cell Lymphoma, AIDS-related Diffuse Mixed Cell Lymphoma, AIDS-related Diffuse Small Cleaved Cell Lymphoma, AIDS-related Immunoblastic Large Cell Lymphoma, AIDS-related Lymphoblastic Lymphoma, AIDS-related Malignancies, AIDS-related Small Noncleaved Cell Lymphoma, Anaplastic Large Cell Lymphoma, Angioimmunoblastic T-cell Lymphoma, Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative, Chronic Eosinophilic Leukemia, Chronic Myelomonocytic Leukemia, Chronic Neutrophilic Leukemia, Chronic Phase Chronic Myelogenous Leukemia, Clear Cell Renal Cell Carcinoma, Cutaneous B-cell Non-Hodgkin Lymphoma, de Novo Myelodysplastic Syndromes, Essential Thrombocythemia, Extramedullary Plasmacytoma, Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue, Hepatosplenic T-cell Lymphoma, HIV Infection, HIV-associated Hodgkin Lymphoma, Intraocular Lymphoma, Isolated Plasmacytoma of Bone, Light Chain Deposition Disease, Mast Cell Leukemia, Myelodysplastic Syndrome With Isolated Del(5q), Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable, Myeloid/NK-cell Acute Leukemia, Nodal Marginal Zone B-cell Lymphoma, Noncutaneous Extranodal Lymphoma, Osteolytic Lesions of Multiple Myeloma, Peripheral T-cell Lymphoma, Plasma Cell Neoplasm, Polycythemia Vera, Post-transplant Lymphoproliferative Disorder, Previously Treated Myelodysplastic Syndromes, Primary Myelofibrosis, Primary Systemic Amyloidosis, Progressive Hairy Cell Leukemia, Initial Treatment, Prolymphocytic Leukemia, Recurrent Adult Acute Lymphoblastic Leukemia, Recurrent Adult Acute Myeloid Leukemia, Recurrent Adult Burkitt Lymphoma, Recurrent Adult Diffuse Large Cell Lymphoma, Recurrent Adult Diffuse Mixed Cell Lymphoma, Recurrent Adult Diffuse Small Cleaved Cell Lymphoma, Recurrent Adult Grade III Lymphomatoid Granulomatosis, Recurrent Adult Hodgkin Lymphoma, Recurrent Adult Immunoblastic Large Cell Lymphoma, Recurrent Adult Lymphoblastic Lymphoma, Recurrent Adult T-cell Leukemia/Lymphoma, Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma, Recurrent Grade 1 Follicular Lymphoma, Recurrent Grade 2 Follicular Lymphoma, Recurrent Grade 3 Follicular Lymphoma, Recurrent Mantle Cell Lymphoma, Recurrent Marginal Zone Lymphoma, Recurrent Mycosis Fungoides/Sezary Syndrome, Recurrent Renal Cell Cancer, Recurrent Small Lymphocytic Lymphoma, Refractory Chronic Lymphocytic Leukemia, Refractory Hairy Cell Leukemia, Refractory Multiple Myeloma, Relapsing Chronic Myelogenous Leukemia, Stage IV Renal Cell Cancer, T-cell Large Granular Lymphocyte Leukemia, Testicular Lymphoma, Unspecified Adult Solid Tumor, Protocol Specific, Waldenström Macroglobulinemia
Interventions: sunitinib malate, pharmacological study, laboratory biomarker analysis; Drug · Other
Lead sponsor: National Cancer Institute (NCI); NIH
Eligibility: 18 Years and older
Enrollment: 42 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2009
U.S. locations: 11
States / cities: Los Angeles, California • Washington D.C., District of Columbia • Chicago, Illinois + 8 more

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: 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PPP2R5D-Related Intellectual Disability, PTCHD1, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 5q35 Deletions, 5q35 Duplications, 7q11.23 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHD3, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, EBF3, EHMT1, EP300 Gene Mutation, GIGYF1, GRIN1, GRIN2D, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KDM3B, NEXMIF, KMT2A, MBOAT7, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NIPBL, NLGN2, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PHF21A, PHF3, PHIP, PSMD12, RELN, RERE, RFX3, RIMS1, RORB, SCN1A, SETD2 Gene Mutation, SHANK2, SIN3A, SLC9A6, SON, SOX5, SPAST, SRCAP, TAOK1, TANC2, TCF20, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 2Q37 Deletion Syndrome, 9q34 Duplications, 15q15 Deletions, 15Q24 Deletion, NR3C2, SYNCRIP, 2q37.3 Deletion, 6q16 Deletion, 15q11.2 BP1-BP2 Deletion, 16p13.3 Deletion, 17Q11.2 Microduplication Syndrome (Disorder), 17p13.3, Xq28 Duplication, CLCN4, CSNK2B, DYNC1H1, EIF3F, GNB1, MED13, MEF2C, RALGAPB, SCN1B, YY1, Xp11.22 Duplication, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2 Gene Mutation, HECW2, PPM1D, RNU4-2, SNAP25, FOXP2, ITSN1
Interventions: Not listed
Lead sponsor: Simons Searchlight; Other
Eligibility: Not listed
Enrollment: 100,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2050
U.S. locations: 2
States / cities: Boston, Massachusetts • Lewisburg, Pennsylvania

Conditions: 22Q11.2 Deletion Syndrome
Interventions: ZYN002; Drug
Lead sponsor: Harmony Biosciences Management, Inc.; Industry
Eligibility: 4 Years to 17 Years
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2022
U.S. locations: 1
States / cities: Greenville, South Carolina

Conditions: 22q11.2 Deletion Syndrome, Velo-Cardio-Facial Syndrome
Interventions: Cognitive remediation program, Small group social skills training; Behavioral
Lead sponsor: Duke University; Other
Eligibility: 11 Years to 17 Years
Enrollment: 38 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2015
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Chronic Lymphocytic Leukemia (CLL), Small Lymphocytic Lymphoma (SLL)
Interventions: Obinutuzumab, Bendamustine, Venetoclax; Drug
Lead sponsor: AbbVie; Industry
Eligibility: 18 Years to 99 Years
Enrollment: 120 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2023
U.S. locations: 15
States / cities: Tempe, Arizona • Denver, Colorado • Kansas City, Missouri + 12 more

Conditions: Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia in Remission, Hematopoietic Cell Transplantation Recipient, JAK2 Gene Mutation, Loss of Chromosome 17p, Mantle Cell Lymphoma, Minimal Residual Disease, Myelodysplastic Syndrome, Non-Hodgkin Lymphoma, Plasma Cell Myeloma, RAS Family Gene Mutation, Recurrent Diffuse Large B-Cell Lymphoma, Recurrent Hematologic Malignancy, Recurrent Mature T- and NK-Cell Non-Hodgkin Lymphoma, Refractory Diffuse Large B-Cell Lymphoma, Refractory Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma, Therapy-Related Acute Myeloid Leukemia, Therapy-Related Myelodysplastic Syndrome, TP53 Gene Mutation
Interventions: Allogeneic Hematopoietic Stem Cell Transplantation, Irradiated Allogeneic Cells; Procedure · Biological
Lead sponsor: Rutgers, The State University of New Jersey; Other
Eligibility: 18 Years and older
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2022
U.S. locations: 1
States / cities: New Brunswick, New Jersey

Conditions: DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Interventions: Not listed
Lead sponsor: Albert Einstein College of Medicine; Other
Eligibility: Not listed
Enrollment: 1,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2029
U.S. locations: 1
States / cities: New York, New York

Conditions: Male Infertility, Klinefelter's Syndrome, Y-chromosome Microdeletions
Interventions: 13-cis retinoic acid, Calcitriol; Drug
Lead sponsor: University of Washington; Other
Eligibility: 21 Years to 60 Years · Male only
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2018
U.S. locations: 1
States / cities: Seattle, Washington

Conditions: Chronic Lymphocytic Leukemia
Interventions: Venetoclax; Drug
Lead sponsor: AbbVie; Industry
Eligibility: 18 Years to 99 Years
Enrollment: 258 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2022
U.S. locations: 6
States / cities: Louisville, Kentucky • Baltimore, Maryland • Hackensack, New Jersey + 3 more

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WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)

Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Thymus Transplantation Dose in DiGeorge #932

Infection in DiGeorge Following CHD Surgery

Natural History Study of Smith-Magenis Syndrome

Palliative Care Needs of Children With Rare Diseases and Their Families

Sirolimus and Azacitidine in Treating Patients With High Risk Myelodysplastic Syndrome or Acute Myeloid Leukemia That is Recurrent or Not Eligible for Intensive Chemotherapy

Positional Cloning of the Gene(s) Responsible for Alagille Syndrome

NB-001 in Children and Adolescents With 22q11 Deletion Syndrome

Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders

Treatment Strategies for Children With Smith-Magenis Syndrome

Idasanutlin, Ixazomib Citrate, and Dexamethasone in Treating Patients With Relapsed Multiple Myeloma

A Phase Ib Study of ISF35 in Combination With Chemotherapy (FCR) in Subjects With Relapsed, Refractory, and/or 17p- CLL

Effects of PTH Replacement on Bone in Hypoparathyroidism

Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy

Prevalence and Clinical Spectrum of the 22q11 Deletion

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)

Cognitive Remediation in 22q11DS

A Study in Previously Untreated Chronic Lymphocytic Leukemia (CLL) Subjects, Excluding Those With the 17p Deletion, to Evaluate Debulking Regimens Prior to Initiating Venetoclax Combination Therapy

Irradiated Donor Cells Following Stem Cell Transplant in Controlling Cancer in Patients With Hematologic Malignancies

Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

RA-2 13-cis Retinoic Acid (Isotretinoin)

A Study to Evaluate the Efficacy of Venetoclax Monotherapy in Relapsed/Refractory Participants With Chronic Lymphocytic Leukemia (CLL)