Search clinical trials for: 22q11.2 deletion syndrome

Total 37614 results

AbbVie

Completed

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

Chronic Lymphocytic Leukemia (CLL) | Small Lymphocytic Lymphoma (SLL)

United States
Celgene

Completed

A Non-interventional Study of REVLIMID® (Lenalidomide) Treatment of IPSS Low- or Intermediate-1-risk Myelodysplastic Syndromes Associated With a Deletion 5q or Refractory/Relapsed Mantle Cell Lymphoma in Korea (RevlimidPMS)

Lymphoma, Follicular | Myelodysplastic Syndromes | Lymphoma, Mantle-Cell

Korea, Republic of
TESS Research Foundation
Stanford University

Enrolling by invitation

SLC13A5 Deficiency Natural History Study - Remote Only

Epilepsy | Movement Disorders | Rare Diseases | Genetic Disorder | Citrate Transporter Deficiency | SLC13A5 Deficiency | EIEE25 | Kohlschutter-Tonz Syndrome (Non-ROGDI) | 17p13.1 Deletions Confined to SLC13A5 Gene | Citrate Transporter Disorder

United States
Rush University Medical Center
Emory University

Enrolling by invitation

Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities

Tuberous Sclerosis | Fragile X Syndrome | Rett Syndrome | Hamartoma Syndrome, Multiple | Angelman Syndrome | Creatine Deficiency, X-linked | Telomeric 22Q13 Monosomy Syndrome | Chromosome 15Q, Partial Deletion

United States
Neuren Pharmaceuticals Limited

Active, not recruiting

An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001) (PMS-001)

Phelan-McDermid Syndrome

United States
Fondazione EMN Italy Onlus

Active, not recruiting

A Trial for Relapsed and Relapsed/Refractory Multiple Myeloma Patients (DPd)

Multiple Myeloma | Deletion 17P Syndrome

Italy
National Cheng-Kung University Hospital

Completed

Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

Mental Disorder | Fetus Disorder

Taiwan
Fundación General de la Universidad de Salamanca
Celgene Corporation

Completed

Study of REVLIMID (Lenalidomide) Versus Placebo in Patients With Low Risk Myelodysplastic Syndrome (SINTRA-REV)

Myelodysplastic Syndrome

Germany, Spain, France
Affiliated Hospital of Jiangnan University

Completed

Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS

Growth Hormone Treatment | Phelan-McDermid Syndrome

China
Icahn School of Medicine at Mount Sinai
National Institute of Mental Health (NIMH)

Completed

Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)

Phelan-McDermid Syndrome | 22q13 Deletion Syndrome

United States
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Approved for marketing

Thymus Transplantation Safety-Efficacy

DiGeorge Syndrome | DiGeorge Anomaly | Complete DiGeorge Anomaly | Complete DiGeorge Syndrome

United States
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Completed

Parathyroid and Thymus Transplantation in DiGeorge #931

DiGeorge Syndrome | Hypoparathyroidism | Complete DiGeorge Syndrome

United States
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Completed

Thymus Transplantation With Immunosuppression (884)

DiGeorge Syndrome | DiGeorge Anomaly | Complete DiGeorge Anomaly | Complete DiGeorge Syndrome

United States
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Terminated

Serum-Free Thymus Transplantation in DiGeorge Anomaly (SerumFree)

DiGeorge Anomaly
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Completed

Thymus Transplantation Dose in DiGeorge #932

DiGeorge Syndrome | DiGeorge Anomaly | Complete DiGeorge Anomaly | Complete DiGeorge Syndrome

United States
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Completed

Phase I/II Thymus Transplantation With Immunosuppression #950 (#950)

DiGeorge Anomaly | Complete DiGeorge Anomaly | Complete DiGeorge Syndrome | Complete Atypical DiGeorge Anomaly | Complete Atypical DiGeorge Syndrome

United States
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Completed

Thymus Transplantation in DiGeorge Syndrome #668

DiGeorge Syndrome | Complete Typical DiGeorge Anomaly

United States
Alexander Kolevzon

Completed

Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

Phelan-McDermid Syndrome

United States
University of Arkansas
St. Christopher's Hospital for Children

Completed

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

Phelan-McDermid Syndrome

United States
Alexander Kolevzon

Completed

AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy

Epilepsy | Phelan-McDermid Syndrome

United States
Boston Children's Hospital
Phelan-McDermid Syndrome Foundation

Completed

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

Intellectual Disability | Autism Spectrum Disorder | Phelan-McDermid Syndrome

United States
Natera, Inc.
Children's Hospital of Philadelphia; Montefiore Medical Center; University of... and other collaborators

Completed

SNP-based Microdeletion and Aneuploidy RegisTry (SMART) (SMART)

Prader-Willi Syndrome | DiGeorge Syndrome | 22q11 Deletion Syndrome | Angelman Syndrome | Trisomy 21 | Trisomy 18 | Trisomy 13 | Monosomy X | Sex Chromosome Abnormalities | 1p36 Deletion Syndrome | Cri-du-Chat Syndrome

United States, Australia, Ireland, Spain, Sweden, United Kingdom
Centre Hospitalier Universitaire de Nīmes

Completed

Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study

22q11 Deletion Syndrome Di George Syndrome

France
Progenity, Inc.

Unknown

Whole Blood Specimen Collection From Pregnant Subjects

Down Syndrome | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Edwards Syndrome | Patau Syndrome | Perinatal Infections

United States
Antonio Persico
University of Bari; Associazione Italiana Sindrome di Phelan-McDermid (AISPHEM)

Enrolling by invitation

Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome. (Q10ASD)

Autism Spectrum Disorder | Phelan-McDermid Syndrome

Italy
Eunice Kennedy Shriver National Institute of Child...

Completed

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

Urogenital Abnormalities | Mental Retardation | Wilm's Tumor | WAGR Syndrome | Aniridia

United States
National Human Genome Research Institute (NHGRI)

Completed

Treatment Strategies for Children With Smith-Magenis Syndrome

Mental Retardation | Sleep Disorders, Circadian Rhythm | Developmental Delay Disorders | Chromosome Deletion | Self Injurious Behavior

United States
Bausch Health Americas, Inc.

Terminated

Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome

Psychosis | Velo-cardio-facial Syndrome

United States
Celgene

Completed

Lenalidomide Safety/Efficacy in Myelodysplastic Syndromes (MDS) Associated With a Deletion (Del)(5q) Cytogenetic Abnormality

Myelodysplastic Syndromes

United States, Germany
Celgene

Completed

MORE - Monitoring Revlimid - Collecting of Patient Information From Myelodysplastic Syndrome (MDS) Italian National Registry (MORE)

Myelodysplastic Syndrome

Italy
National Institute of Dental and Craniofacial Research...

Terminated

Effects of PTH Replacement on Bone in Hypoparathyroidism

DiGeorge Syndrome | Hypoparathyroidism

United States
Progenity, Inc.

Completed

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

Down Syndrome | Aneuploidy | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Chromosome Deletion | Edwards Syndrome | Patau Syndrome

United States
Sidney Kimmel Comprehensive Cancer Center at Johns...

Terminated

Trial of High Dose Lenalidomide in Patients With MDS and AML With Trilineage Dysplasia

Myelodysplastic Syndrome

United States
Hôpital le Vinatier

Completed

Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome (FaSchi22)

Schizophrenia
Sidney Kimmel Cancer Center at Thomas Jefferson...
Celgene Corporation

Terminated

A Dose Range Finding Study of Lenalidomide in Non-5q Chromosome Deletion in Low and Intermediate Risk Myelodysplastic Syndrome (MDS) Patients

Myelodysplastic Syndrome | MDS | Low to Intermediate-1 MDS | Non-deletion 5q

United States
State University of New York - Upstate Medical...
National Institute of Mental Health (NIMH)

Completed

Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome

Velocardiofacial Syndrome

United States
Asociación Andaluza de Hematología y Hemoterapia

Completed

Study of Vidaza (Azacitidine) Versus Support Treatment in Patients With Low Risk Myelodysplastic Syndrome (Low and Intermediate-1 IPSS) Without the 5q Deletion and Transfusion Dependent Anaemia (ABRAZA)

Myelodysplastic Syndrome (MDS)

Spain
Xiao-dong Zhuang
Sun Yat-sen University

Unknown

Rosuvastatin Effect on Telomere-telomerase System in ACS

Telomere Length, Mean Leukocyte | Telomere Shortening | 22q Telomere Deletion Syndrome
Groupe Francophone des Myelodysplasies
Celgene Corporation

Unknown

A Study of the Efficacy and Safety of Lenalidomide Combined to Escalating Doses of Chemotherapy in Intermediate-2-or High Risk Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML) With Del 5q (GFM-Chimio-Rev)

Acute Myeloid Leukemia | Chronic Myelomonocytic Leukemia | Myelodysplastic Syndrome

France
University Health Network, Toronto

Completed

Put a Face to a Name (Part A): The Effects of Photographic Aids on Patient Satisfaction, Clinician Communication, and Quality of Care (Face2Name)

Effects of Photographic Aids (Photos of Faces) on Patient Recall of Their Clinical Care Team | Effects of Photographic Aids (Photos of Faces) on Clinician-patient Communication | Effects of Photographic Aids (Photos of Faces) on Overall Patient Satisfaction

Canada
Bambino Gesù Hospital and Research Institute
National Alliance for Research on Schizophrenia and Depression; Orygen

Unknown

Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome.

22q11 Deletion Syndrome

Holy See (Vatican City State)
Telik

Terminated

Study of (Telintra®) in Non-Del(5q) Myelodysplastic Syndrome

Myelodysplastic Syndrome (MDS)

United States
Telik

Terminated

Phase 2 Study of Telintra® in Deletion 5q Myelodysplastic Syndrome

Myelodysplastic Syndrome (MDS)

United States
Telik

Completed

Dose-Ranging Study of Telintra® Tablets + Revlimid® in Patients With Non-Deletion (5q) Low to Intermediate-1 Risk Myelodysplastic Syndrome (MDS)

Myelodysplastic Syndrome

United States
Assistance Publique - Hôpitaux de Paris
Aventis Pharmaceuticals

Completed

Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type

EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT | CHROMOSOME 2q31.2 DELETION SYNDROME
Children's Healthcare of Atlanta

Terminated

Infection in DiGeorge Following CHD Surgery

DiGeorge Syndrome | Congenital Heart Defects

United States
Celgene Corporation
ICON Clinical Research

Completed

Lenalidomide Versus Placebo in Myelodysplastic Syndromes With a Deletion 5q[31] Abnormality

Myelodysplastic Syndromes

Germany, Israel, United Kingdom, Spain, Belgium, Italy, France, Netherlands, Sweden
Pontificia Universidade Catolica de Sao Paulo

Completed

Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome

Ear Malformations in the Velocardiofacial Syndrome
National Human Genome Research Institute (NHGRI)

Completed

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

Alagille Syndrome

United States
National Institutes of Health Clinical Center (CC)

Completed

Leucovorin for the Treatment of 5 q Minus Syndrome

Myelodysplastic Syndrome | 5q Minus Syndrome

United States

Search clinical trials for: 22q11.2 deletion syndrome

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