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ClinicalTrials.gov public records Last synced May 21, 2026, 10:57 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Chromosome Deletion Clear all
Active, not recruiting No phase listed Observational
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated May 6, 2026 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Mar 24, 2022 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 3 Interventional Results available
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 5, 2024 · Synced May 21, 2026, 10:57 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Microdeletion 3q29 Syndrome, Microduplication 3q29 Syndrome
Interventions
Not listed
Lead sponsor
Rutgers, The State University of New Jersey
Other
Eligibility
Not listed
Enrollment
800 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2028
U.S. locations
1
States / cities
Piscataway, New Jersey
Source: ClinicalTrials.gov public record
Updated May 19, 2026 · Synced May 21, 2026, 10:57 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated May 24, 2025 · Synced May 21, 2026, 10:57 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers
View directory record Official record
Conditions
Chromosome 22q11.2 Deletion Syndrome
Interventions
Not listed
Lead sponsor
UMC Utrecht
Other
Eligibility
8 Years to 20 Years
Enrollment
175 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2002 – 2012
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 12, 2006 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Aggressive Non-Hodgkin Lymphoma, Blasts Under 5 Percent of Bone Marrow Nucleated Cells, Chronic Lymphocytic Leukemia, Loss of Chromosome 17p, Myelodysplastic/Myeloproliferative Neoplasm, Non-Hodgkin Lymphoma, Prolymphocytic Leukemia, Recurrent Adult Acute Lymphoblastic Leukemia, Recurrent Adult Acute Myeloid Leukemia, Recurrent Aggressive Adult Non-Hodgkin Lymphoma, Recurrent Childhood Acute Lymphoblastic Leukemia, Recurrent Childhood Acute Myeloid Leukemia, Recurrent Chronic Lymphocytic Leukemia, Recurrent Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Recurrent Diffuse Large B-Cell Lymphoma, Recurrent Hodgkin Lymphoma, Recurrent Mantle Cell Lymphoma, Recurrent Non-Hodgkin Lymphoma, Recurrent Plasma Cell Myeloma, Recurrent Small Lymphocytic Lymphoma, Waldenstrom Macroglobulinemia
Interventions
Atorvastatin Calcium, Cyclosporine, Fludarabine Phosphate, Laboratory Biomarker Analysis, Mycophenolate Mofetil, Nonmyeloablative Allogeneic Hematopoietic Stem Cell Transplantation, Peripheral Blood Stem Cell Transplantation, Total-Body Irradiation
Drug · Other · Procedure + 1 more
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
Not listed
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
2
States / cities
Denver, Colorado • Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Jan 1, 2020 · Synced May 21, 2026, 10:57 PM EDT
Recruiting Not applicable Interventional
View directory record Official record
Conditions
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome, Angelman Syndrome, Rett Syndrome, Chromosome 15Q, Partial Deletion, Creatine Deficiency, X-linked
Interventions
Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
Behavioral · Other
Lead sponsor
Rush University Medical Center
Other
Eligibility
2 Years to 12 Years
Enrollment
92 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jan 22, 2026 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Chronic Myelomonocytic Leukemia, Myelodysplastic Syndrome With Isolated Del(5q), Myelodysplastic/Myeloproliferative Neoplasm, Previously Treated Myelodysplastic Syndrome, Recurrent Adult Acute Myeloid Leukemia, Untreated Adult Acute Myeloid Leukemia
Interventions
Cytarabine, Laboratory Biomarker Analysis, Pharmacological Study, Quality-of-Life Assessment, Questionnaire Administration, WEE1 Inhibitor AZD1775
Drug · Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2018
U.S. locations
1
States / cities
Scottsdale, Arizona
Source: ClinicalTrials.gov public record
Updated Sep 5, 2019 · Synced May 21, 2026, 10:57 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome, Smith-Magenis Syndrome, DiGeorge Syndrome, Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
0 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 1 Interventional
View directory record Official record
Conditions
Autologous Hematopoietic Stem Cell Transplant Recipient, Loss of Chromosome 17p, Plasma Cell Leukemia, Recurrent Plasma Cell Myeloma, Refractory Plasma Cell Myeloma
Interventions
bortezomib, fludarabine phosphate, melphalan, total marrow irradiation, tacrolimus, sirolimus, peripheral blood stem cell transplantation, laboratory biomarker analysis
Drug · Other · Radiation + 1 more
Lead sponsor
City of Hope Medical Center
Other
Eligibility
18 Years to 70 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2024
U.S. locations
1
States / cities
Duarte, California
Source: ClinicalTrials.gov public record
Updated Mar 25, 2025 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
B-Cell Chronic Lymphocytic Leukemia, B-Lymphocytic Leukemia, Chronic, Chronic Lymphocytic Leukemia, Leukemia, Chronic Lymphatic, Leukemia, Chronic Lymphocytic, B-Cell, Leukemia, Lymphocytic, Chronic, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphocytic Leukemia, Chronic, B Cell, Lymphocytic Leukemia, Chronic, B-Cell
Interventions
Ibrutinib, Fludarabine, Pembrolizumab
Drug
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
18 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 29, 2026 · Synced May 21, 2026, 10:57 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
Interventions
Blood sampling for Laboratory Developed Test (LDT) analysis
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years to 54 Years · Female only
Enrollment
760 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
8
States / cities
Scottsdale, Arizona • Eunice, Louisiana • Brooklyn, New York + 5 more
Source: ClinicalTrials.gov public record
Updated Aug 20, 2019 · Synced May 21, 2026, 10:57 PM EDT
Completed Not applicable Interventional
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 9, 2015 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Mar 8, 2026 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 2 Interventional
View directory record Official record
Conditions
Angelman Syndrome
Interventions
Alogabat
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
5 Years to 17 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
6
States / cities
Chicago, Illinois • Boston, Massachusetts • New York, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Dec 3, 2025 · Synced May 21, 2026, 10:57 PM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers
View directory record Official record
Conditions
Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Rett Syndrome, Smith Magenis Syndrome, Williams Syndrome, Turner Syndrome, Klinefelter Syndrome, Chromosome 22q11.2 Deletion Syndrome, Tuberous Sclerosis, Down Syndrome
Interventions
Parent-Infant Inter(X)action Intervention (PIXI)
Behavioral
Lead sponsor
RTI International
Other
Eligibility
Up to 99 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 30, 2025 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
Conditions
Loss of Chromosome 17p, Recurrent Chronic Lymphocytic Leukemia, Recurrent Small Lymphocytic Lymphoma, Refractory Chronic Lymphocytic Leukemia, Refractory Small Lymphocytic Lymphoma, Richter Syndrome
Interventions
Ibrutinib, Laboratory Biomarker Analysis, Nivolumab
Drug · Other · Biological
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Mar 19, 2024 · Synced May 21, 2026, 10:57 PM EDT
Completed No phase listed Observational Accepts healthy volunteers
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jan 28, 2021 · Synced May 21, 2026, 10:57 PM EDT
Terminated Phase 2 Interventional Results available
View directory record Official record
Conditions
Velo-cardio-facial Syndrome, Psychosis
Interventions
Metyrosine, Placebo
Drug
Lead sponsor
Bausch Health Americas, Inc.
Industry
Eligibility
16 Years to 65 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Syracuse, New York
Source: ClinicalTrials.gov public record
Updated Nov 21, 2019 · Synced May 21, 2026, 10:57 PM EDT
Recruiting No phase listed Observational
View directory record Official record
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, POMGNT1, 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, 2q34 Duplication, 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
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
Source: ClinicalTrials.gov public record
Updated Jun 5, 2025 · Synced May 21, 2026, 10:57 PM EDT
Recruiting Phase 2 Interventional
View directory record Official record
Conditions
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome, STAT 1 Gain of Function, STAT 3 Gain of Function, Hypomorphic RAG1 Deficiency, CD40 Ligand Deficiency, Mendelian Susceptibility to Mycobacterial Disease, GATA2 Associated Immunodeficiency, CD40 Deficiency, Hypomorphic RAG2 Deficiency, Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome, Omenn Syndrome, Chronic Granulomatous Disease
Interventions
Hematopoietic stem cell transplant (HSCT)
Biological
Lead sponsor
Paul Szabolcs
Other
Eligibility
5 Years to 40 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 14, 2026 · Synced May 21, 2026, 10:57 PM EDT
Not listed No phase listed Observational
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced May 21, 2026, 10:57 PM EDT
Completed Phase 1 Interventional
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Apr 3, 2022 · Synced May 21, 2026, 10:57 PM EDT