Clinical Trials on Chromosome 5q Deletion

Total 1588 results

Instituto Valenciano de Infertilidad, IVI Alicante
Igenomix; IVI Murcia

Terminated

Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions

Male Sterility Due to Y-chromosome Deletions

Spain
National Institutes of Health Clinical Center (CC)

Completed

Leucovorin for the Treatment of 5 q Minus Syndrome

Myelodysplastic Syndrome | 5q Minus Syndrome

United States
Washington University School of Medicine
Dickson, Patricia I., M.D.; Milbrandt, Jeffrey, MD, PhD; Mitra, Rob, PhD; Turner...

Recruiting

Chromosome 9 P Minus Syndrome

Chromosome 9P Deletion Syndrome | 9p Minus Syndrome | Alfi Syndrome | 9P Monosomy | 9P Partial Monosomy Syndrome

United States
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
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
Alexander Kolevzon

Completed

Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

Phelan-McDermid Syndrome

United States
Affiliated Hospital of Jiangnan University

Completed

Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS

Growth Hormone Treatment | Phelan-McDermid Syndrome

China
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
Swathi Sethuram

Completed

Growth Hormone Treatment in Children With Phelan McDermid Syndrome

Phelan McDermid Syndrome

United States
UMC Utrecht
Children's Hospital of Philadelphia; Netherlands Brain Foundation

Unknown

Genetics and Psychopathology in the 22q11 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome

United States, Netherlands
University Hospital, Montpellier

Unknown

Breakpoint Analysis of de Novo Apparently Balanced Chromosomal Translocations

Balanced Chromosomal Translocation

France
Reproductive Medicine Associates of New Jersey

Completed

Predicting Normal vs. Carrier Status in Euploid Embryos of Translocation Carriers

Balanced Chromosomal Translocation

United States
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
Simons Searchlight
Boston Children's Hospital; Geisinger Clinic; Simons Foundation

Recruiting

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

SMARCA4 Gene Mutation | DDX3X | 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 | DNMT3A | DSCAM | DYRK1A | FOXP1 | GRIN2A | GRIN2B | HIVEP2-Related Intellectual... and other conditions

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
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
Boston Children's Hospital
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Recruiting

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Intellectual Disability | Autism Spectrum Disorder | Phelan-McDermid Syndrome

United States
Icahn School of Medicine at Mount Sinai
National Institute of Neurological Disorders and Stroke (NINDS)

Enrolling by invitation

A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism

Autism Spectrum Disorder (ASD) | Phelan-McDermid Syndrome

United States
Instituto Valenciano de Infertilidad, IVI VALENCIA

Completed

Preimplantation Genetic Screening in Women of Advanced Maternal Age

Chromosomal Abnormalities

Spain
University Hospital, Brest

Recruiting

Biocollection in MyeloDysplastic Syndrome (P-MDS) (P-MDS)

Myelodysplastic Syndromes | Chromosome Abnormality | Acute Myeloid Leukemia With Multilineage Dysplasia | Myelodysplastic Syndrome With Ring Sideroblasts | Myelodysplastic Anemia | Myelodysplastic Syndrome With Isolated Del(5Q)

France
YiYang Zhu

Unknown

Comparison of Karyotyping, CMA and NIPT for Prenatal Diagnosing Chromosomal Anomalies

Prenatal Diagnosis

China
Innovation Research & Training

Recruiting

Mindfulness Program for Adolescents With 22q11DS

22Q11 Deletion Syndrome

United States
KU Leuven

Unknown

Chromosomal Analysis of Single Cells in Human Embryos

Chromosomal Abnormalities

Belgium
Cervesi Hospital, Cattolica, Italy

Unknown

Genomic DNA in Human Blastocoele Fluid

Chromosomal Aneuploidies | Single Gene Desease

Italy
University Hospital Tuebingen

Recruiting

First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome (ReFaPo02)

Pregnancy

Germany
First Affiliated Hospital Xi'an Jiaotong University

Active, not recruiting

The Value of Prenatal Ultrasound in Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies

Complicated Twin Pregnancy

China
Stephan Eliez

Recruiting

Using Transcranial Alternating Current Stimulation to Improve Executive Function in 22q11.2 Deletion Syndrome

tACS | 22Q11 Deletion Syndrome

Switzerland
Zynerba Pharmaceuticals, Inc.

Completed

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

22Q Deletion Syndrome

United States, Australia
Centre Hospitalier Universitaire de Nīmes

Completed

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

22q11 Deletion Syndrome Di George Syndrome

France
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
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
Changhai Hospital

Unknown

Application of UCAD for Diagnosing Urothelial Carcinoma.

Diagnoses Disease | Urothelial Carcinoma | Chromosomal Abnormality | Urine Marking

China
Per Bendix Jeppesen
Aarhus University Hospital; University of Aarhus

Unknown

Steviol Glycoside for Use in Restoring Muscle Glycogen by Increasing the Rate of Glycogen Re-synthesis in Muscles (steviagly)

Glycogen Depletion

Denmark
Stealth BioTherapeutics Inc.

Active, not recruiting

Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD) (NuPower)

Mitochondrial Diseases | Mitochondrial Myopathies | Mitochondrial Complex I Deficiency | Mitochondrial Pathology | Mitochondrial DNA Depletion | Mitochondrial DNA Mutation | Mitochondrial DNA Deletion | Mitochondrial Metabolism Defect

Spain, United States, Italy, Netherlands, Australia, Germany, Hungary, New Zealand, Norway, United Kingdom
Hôpital le Vinatier

Recruiting

Arithmetic Abilities in Children With 22q11.2DS (ARITH22)

22q11.2 Deletion Syndrome

France
Nobias Therapeutics, Inc.

Completed

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

22q11 Deletion Syndrome

United States, Canada
University of Geneva, Switzerland

Completed

Effects of Methylphenidate on Brain and Cognition in 22q11 Deletion Syndrome

22q11.2 Deletion Syndrome

Switzerland
Hôpital le Vinatier

Terminated

Social Cognition Training and Cognitive Remediation (RCKID)

22q11.2 Deletion Syndrome

France
Children's Healthcare of Atlanta

Terminated

Prevalence and Clinical Spectrum of the 22q11 Deletion

Congenital Disorders

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
Albert Einstein College of Medicine
National Heart, Lung, and Blood Institute (NHLBI)

Recruiting

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

DiGeorge Syndrome | 22q11.2 Deletion Syndrome

United States
University of Geneva, Switzerland

Terminated

Neuroprotective Effects of Risperdal on Brain and Cognition in 22q11 Deletion Syndrome

22q11.2 Deletion Syndrome

Switzerland
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
Maastricht University Medical Center

Withdrawn

Diagnostics for the Treatment of Progressive Mucosal Lesions of the Oral Cavity: a Prospective Study

Chromosomal Instability | Low Grade Dysplasia Oral Cavity | Loss of Heterozygostiy | Fluorescence In Situ Hybridization

Netherlands
United States Army Research Institute of Environmental...

Completed

Carbohydrate Availability and microRNA Expression

Glycogen Depletion

United States
National Center for Research Resources (NCRR)
Children's Hospital of Philadelphia

Unknown

Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Abnormalities, Multiple | DiGeorge Syndrome | Chromosome Abnormalities | Conotruncal Cardiac Defects | Shprintzen Syndrome

United States
Taizhou Hospital of Zhejiang Province affiliated...
Sir Run Run Shaw Hospital; First Affiliated Hospital of Wenzhou Medical University and other collaborators

Recruiting

Application of Chromosomal Instability in Early Diagnosis of Biliary Tract Carcinoma

Biliary Tract Carcinoma

China
Rambam Health Care Campus

Unknown

Electronic Nose and Fetal Chromosomal Disorders

Detecting Abnormal Fetal Karyotype by the Electronic Nose
Aevi Genomic Medicine, LLC, a Cerecor company

Completed

Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions

22q11.2 Deletion Syndrome

United States

Clinical Trials on Chromosome 5q Deletion

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CROs in Malawi

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