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ClinicalTrials.gov public records Last synced Jun 11, 2026, 1:35 AM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Chromosome Disorders Clear all
Recruiting Phase 2 Interventional

Dose-Adjusted EPOCH With or Without Rituximab Plus Ponatinib for the Treatment of Newly-Diagnosed Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia/Lymphoma

NCT07224100
View directory record Official record
Conditions
B Acute Lymphoblastic Leukemia With t(9;22)(q34.1;q11.2); BCR-ABL1, B Lymphoblastic Leukemia/Lymphoma With t(9;22)(q34.1;q11.2); BCR-ABL1, Lymphoblastic Lymphoma
Interventions
Cyclophosphamide, Doxorubicin, Etoposide, Filgrastim, Pegfilgrastim, Ponatinib, Prednisone, Rituximab, Vincristine, Biospecimen Collection, Bone Marrow Aspiration, Bone Marrow Biopsy, Computed Tomography, Positron Emission Tomography
Drug · Biological · Procedure
Lead sponsor
University of Washington
Other
Eligibility
18 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Apr 15, 2026 · Synced Jun 11, 2026, 1:35 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Multiple Gestation Study

NCT02278536
View directory record Official record
Conditions
Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
354 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2019
U.S. locations
6
States / cities
San Carlos, California • San Diego, California • New York, New York + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 25, 2019 · Synced Jun 11, 2026, 1:35 AM EDT
Completed Phase 2 Interventional Results available

Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome

NCT01357239
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
12 Years to 17 Years
Enrollment
139 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
8
States / cities
Sacramento, California • Decatur, Georgia • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated May 11, 2015 · Synced Jun 11, 2026, 1:35 AM EDT
Completed Phase 2 Interventional

Bone Marrow Transplantation in Treating Patients With Multiple Myeloma, Chronic Phase Chronic Myelogenous Leukemia, or Agnogenic Myeloid Metaplasia

NCT00004181
View directory record Official record
Conditions
Chronic Myeloproliferative Disorders, Leukemia, Multiple Myeloma and Plasma Cell Neoplasm
Interventions
busulfan, cyclophosphamide, allogeneic bone marrow transplantation, radiation therapy
Drug · Procedure · Radiation
Lead sponsor
Northwestern University
Other
Eligibility
15 Years to 55 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2004
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Jun 11, 2012 · Synced Jun 11, 2026, 1:35 AM EDT
Completed No phase listed Observational

Determining the Association of Chromosomal Variants With Non-PV Triggers and Ablation-outcome in AF (DECAF)

NCT01751607
View directory record Official record
Conditions
Atrial Fibrillation
Interventions
Not listed
Lead sponsor
Texas Cardiac Arrhythmia Research Foundation
Other
Eligibility
18 Years to 85 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
2
States / cities
Austin, Texas
Source: ClinicalTrials.gov public record
Updated Sep 4, 2014 · Synced Jun 11, 2026, 1:35 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Gonadal Tissue Cryopreservation for Fertility Preservation in Children with a Disorder of Sex Development

NCT06692049
View directory record Official record
Conditions
DSD, 46,XY, DSD, Ovotesticular, DSD, Sex Chromosome, Disorders of Sex Development, Disorder of Sex Development, 46,XY, Disorder of Sex Development, 46,Xy, Cbx2-Related
Interventions
Gonadectomy
Procedure
Lead sponsor
Erin Rowell
Other
Eligibility
Up to 30 Years
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2035
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Nov 17, 2024 · Synced Jun 11, 2026, 1:35 AM EDT
Not listed No phase listed Observational

Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)

NCT02180451
View directory record Official record
Conditions
Smith Magenis Syndrome
Interventions
Not listed
Lead sponsor
Vanda Pharmaceuticals
Industry
Eligibility
6 Years to 50 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 24, 2016 · Synced Jun 11, 2026, 1:35 AM EDT
Completed No phase listed Observational

Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank

NCT02706639
View directory record Official record
Conditions
Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
1 Day to 85 Years
Enrollment
305 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
3
States / cities
Bethesda, Maryland • St Louis, Missouri • Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 1, 2026 · Synced Jun 11, 2026, 1:35 AM EDT
Completed Phase 4 Interventional Results available

Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome

NCT01112683
View directory record Official record
Conditions
Down Syndrome
Interventions
Memantine, Placebo
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years to 32 Years
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2011
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 31, 2013 · Synced Jun 11, 2026, 1:35 AM EDT
Terminated No phase listed Observational

Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)

NCT03113877
View directory record Official record
Conditions
Cornelia de Lange Syndrome
Interventions
Autonomic Dysfunction Testing
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
8 Years to 18 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 5, 2018 · Synced Jun 11, 2026, 1:35 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)

NCT06373861
View directory record Official record
Conditions
Sex Chromosome Aneuploidy
Interventions
no intervention
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
0 Days to 100 Years
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2037
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Apr 17, 2024 · Synced Jun 11, 2026, 1:35 AM EDT
Recruiting No phase listed Observational

Natural History of Noncirrhotic Portal Hypertension

NCT02417740
View directory record Official record
Conditions
Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis, Idiopathic Non-Cirrhotic Portal Hypertension
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
12 Years to 100 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 31, 2026 · Synced Jun 11, 2026, 1:35 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Bendamustine and Idarubicin in Treating Older Patients With Previously Untreated AML or MDS

NCT01141725
View directory record Official record
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), Untreated Adult Acute Myeloid Leukemia
Interventions
bendamustine hydrochloride, idarubicin
Drug
Lead sponsor
Fred Hutchinson Cancer Center
Other
Eligibility
50 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2012
U.S. locations
1
States / cities
Seattle, Washington
Source: ClinicalTrials.gov public record
Updated Aug 17, 2017 · Synced Jun 11, 2026, 1:35 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Speech-in-noise Perception in Autism and Fragile X

NCT06088589
View directory record Official record
Conditions
Autism Spectrum Disorder, Fragile X Syndrome
Interventions
Mismatch negativity
Behavioral
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
15 Years to 35 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Mar 18, 2026 · Synced Jun 11, 2026, 1:35 AM EDT
Completed Phase 1 Interventional

A Study of RG1662 in Individuals With Down Syndrome

NCT01436955
View directory record Official record
Conditions
Down Syndrome
Interventions
Placebo, RG1662
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
18 Years to 30 Years
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
8
States / cities
Phoenix, Arizona • Little Rock, Arkansas • La Jolla, California + 5 more
Source: ClinicalTrials.gov public record
Updated Mar 2, 2015 · Synced Jun 11, 2026, 1:35 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome

NCT02421276
View directory record Official record
Conditions
Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
Interventions
Phlebotomy
Other
Lead sponsor
University of Colorado, Denver
Other
Eligibility
Up to 22 Years
Enrollment
45 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2018
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Apr 18, 2022 · Synced Jun 11, 2026, 1:35 AM EDT
Withdrawn Phase 1 Interventional

Intravenous Erwinia Chrysanthemi Asparaginase in Patients With Newly Diagnosed Philadelphia Chromosome Negative Acute Lymphoblastic Leukemia Aged 60 Years or Older

NCT02647190
View directory record Official record
Conditions
Acute Lymphoblastic Leukemia (ALL), Newly Diagnosed Philadelphia Chromosome Negative, Aged 60 Years or Older
Interventions
Erwinia Chrysanthemi asparaginase
Drug
Lead sponsor
Memorial Sloan Kettering Cancer Center
Other
Eligibility
60 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jun 1, 2017 · Synced Jun 11, 2026, 1:35 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions

NCT00870974
View directory record Official record
Conditions
Parkinson Disease, Huntington Disease, Autistic Spectrum Disorders, Fragile X Syndrome, Alzheimer Disease, Mild Cognitive Impairment
Interventions
[18F]FPEB
Drug
Lead sponsor
Institute for Neurodegenerative Disorders
Other
Eligibility
18 Years to 85 Years
Enrollment
48 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2016
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Jan 5, 2017 · Synced Jun 11, 2026, 1:35 AM EDT
Completed Not applicable Interventional

Nutritional Formulation for Angelman Syndrome

NCT03644693
View directory record Official record
Conditions
Angelman Syndrome
Interventions
Nutritional Formulation Containing Exogenous Ketones, Placebo Formulation
Dietary Supplement
Lead sponsor
University of Colorado, Denver
Other
Eligibility
4 Years to 11 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Aug 19, 2020 · Synced Jun 11, 2026, 1:35 AM EDT
Terminated Phase 2Phase 3 Interventional Results available

Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome

NCT03790865
View directory record Official record
Conditions
Prader-Willi Syndrome, Hyperphagia
Interventions
Livoletide, Placebo
Drug
Lead sponsor
Millendo Therapeutics SAS
Industry
Eligibility
4 Years to 65 Years
Enrollment
158 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
15
States / cities
Birmingham, Alabama • Orange, California • San Diego, California + 12 more
Source: ClinicalTrials.gov public record
Updated Feb 16, 2021 · Synced Jun 11, 2026, 1:35 AM EDT
Terminated Phase 2 Interventional Results available

Imatinib Mesylate Plus Cytarabine in Treating Patients With Chronic Myelogenous Leukemia

NCT00022490
View directory record Official record
Conditions
Leukemia
Interventions
cytarabine, imatinib mesylate
Drug
Lead sponsor
OHSU Knight Cancer Institute
Other
Eligibility
18 Years to 120 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2011
U.S. locations
2
States / cities
Boston, Massachusetts • Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jan 6, 2016 · Synced Jun 11, 2026, 1:35 AM EDT
Completed Phase 2 Interventional

Leucovorin for the Treatment of 5 q Minus Syndrome

NCT00004997
View directory record Official record
Conditions
5q Minus Syndrome, Myelodysplastic Syndrome
Interventions
Leucovorin
Drug
Lead sponsor
National Institutes of Health Clinical Center (CC)
NIH
Eligibility
Not listed
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Jun 11, 2026, 1:35 AM EDT
Active, not recruiting Phase 2 Interventional

A Trial to Investigate Different Doses of Lonapegsomatropin Compared to Somatropin in Individuals With Turner Syndrome

NCT05690386
View directory record Official record
Conditions
Turner Syndrome
Interventions
Lonapegsomatropin, Somatropin
Biological · Drug
Lead sponsor
Ascendis Pharma Endocrinology Division A/S
Industry
Eligibility
1 Year to 10 Years · Female only
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
19
States / cities
Palo Alto, California • San Diego, California • Aurora, Colorado + 16 more
Source: ClinicalTrials.gov public record
Updated May 12, 2026 · Synced Jun 11, 2026, 1:35 AM EDT
Active, not recruiting Phase 2 Interventional

Combination Chemotherapy and Ponatinib Hydrochloride in Treating Patients With Acute Lymphoblastic Leukemia

NCT01424982
View directory record Official record
Conditions
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Lymphoblastic Leukemia, Adult Acute Lymphoblastic Leukemia in Complete Remission, B Acute Lymphoblastic Leukemia With t(9;22)(q34.1;q11.2); BCR-ABL1, Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Philadelphia Chromosome Positive, Untreated Adult Acute Lymphoblastic Leukemia
Interventions
Cyclophosphamide, Cytarabine, Dexamethasone, Doxorubicin, Doxorubicin Hydrochloride, Laboratory Biomarker Analysis, Methotrexate, Ponatinib, Ponatinib Hydrochloride, Prednisone, Rituximab, Vincristine, Vincristine Sulfate
Drug · Other · Biological
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older
Enrollment
88 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2027
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Apr 14, 2026 · Synced Jun 11, 2026, 1:35 AM EDT