Search clinical trials for: 1p36 deletion syndrome

Total 37188 results

Natera, Inc.

Completed

Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood (MAPS)

Trisomy 21 | Trisomy 18 | Trisomy 13 | Sex Chromosome Abnormalities | Microdeletion Syndromes

United States, Spain, Taiwan
Natera, Inc.

Completed

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA (Microdel Triad)

Trisomy 21 | Trisomy 18 | Trisomy 13 | Sex Chromosome Abnormalities | Microdeletion Syndromes

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
Sanford Health
National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators

Recruiting

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

Mitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditions

United States, Australia
National Cancer Institute (NCI)

Not yet recruiting

Pacritinib, a Kinase Inhibitor of CSF1R, IRAK1, JAK2, and FLT3, in Adults and Pediatric Participants 12 Years of Age or Older With Myelodysplastic Syndromes or Myelodysplastic/Myeloproliferative Neoplasms

Myelodysplastic Syndromes

United States
Baylor College of Medicine
Doris Duke Charitable Foundation

Recruiting

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

RAI1 Gene 17P11.2 Deletion+Duplication

United States
University of British Columbia

Not yet recruiting

Vitamin B12 and Folinic Acid Supplementation in Mitochondrial DNA Deletion Syndromes

Mitochondrial DNA Deletion | Macrocytosis
Anagnostou, Evdokia, M.D.
The Hospital for Sick Children; Canadian Institutes of Health Research (CIHR); Alberta Health services and other collaborators

Not yet recruiting

Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders (CALM)

Anxiety Disorders | Generalized Anxiety Disorder | Anxiety | Tuberous Sclerosis | ADHD | Neurodevelopmental Disorders | Autism Spectrum Disorder | Fragile X Syndrome | Social Anxiety | Social Anxiety Disorder | Agoraphobia | Tourette Syndrome | Tic Disorders | Autism | ADHD Predominantly Inattentive Type | ADHD - Combined... and other conditions

Canada
UMC Utrecht
Eindhoven University of Technology

Recruiting

Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development (EARLYBIRD)

22q11.2 Deletion Syndrome | Adolescent Idiopathic Scoliosis

Netherlands
Innovation Research & Training

Recruiting

Mindfulness Program for Adolescents With 22q11DS

22Q11 Deletion Syndrome

United States
Laboratoires Vivacy

Recruiting

Study of a Novel Hyaluronic Acid Based Gel for Volume Deficiency in the Mid-face (FaceHyal) (FaceHyal)

Aging | Aesthetics | Volume Deficiency in the Mid-Face

France
University Hospital Schleswig-Holstein
Michael J. Fox Foundation for Parkinson's Research

Recruiting

Sensorimotor Integration in Monogenic Parkinson-dystonia Syndromes (SensoMo-PD)

Dystonia | Parkinson | Dystonia, Familial | DYT3 | DYT5 | PINK1 Gene Deletion

Germany
German Cancer Research Center
University Hospital Heidelberg; University Hospital Dresden

Not yet recruiting

Genetic Ablation of CD33 in HSC to Broaden the Therapeutic Index of CD33-directed Immunotherapy in Patients With AML (GALAXY33)

Relapsed/Refractory Acute Myeloid Leukemia (AML)

Germany
Stephan Eliez

Recruiting

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

tACS | 22Q11 Deletion Syndrome

Switzerland
Hoffmann-La Roche

Recruiting

Study to Investigate the Pharmacokinetics and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype. (Aldebaran)

Angelman Syndrome

Australia, United States, Spain, Italy, France, Germany
Sumitomo Pharma Switzerland GmbH

Recruiting

Congenital Athymia Patient Registry

Complete DiGeorge Anomaly | Complete DiGeorge Syndrome | Congenital Athymia

United States
The Champ Foundation
Children's Hospital of Philadelphia; The Cleveland Clinic

Recruiting

SLSMDS Natural History Study

Pearson Syndrome | Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)

United States
Mayo Clinic
Astellas Pharma Inc; Casimir, LLC

Recruiting

Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine

Mitochondrial Diseases | Mitochondrial Myopathies | Kearns-Sayre Syndrome | Mitochondrial DNA Mutation | Chronic Progressive External Ophthalmoplegia With Myopathy

United States
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
Hôpital le Vinatier

Recruiting

Understanding of Psychotic Disorders in Children With 22q11.2DS (PremiCeS22)

22q11.2 Deletion Syndrome

France
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
dr. Laura C. G. de Graaff-Herder

Recruiting

GROWing Up With Rare GENEtic Syndromes (GROW UR GENES)

Disorders of Sex Development | Congenital Adrenal Hyperplasia | Tuberous Sclerosis | Kallmann Syndrome | Prader-Willi Syndrome | Neurofibromatosis | Rett Syndrome | 22q11 Deletion Syndrome | Turner Syndrome | Noonan Syndrome | Allan-Herndon-Dudley Syndrome | Saethre-Chotzen Syndrome | Congenital Hypopituitarism | Cornelia... and other conditions

Netherlands
Hôpital le Vinatier

Recruiting

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

22q11.2 Deletion Syndrome

France
Clinical Research Associates, LLC

Recruiting

Safety, Tolerability, and Efficacy of Arbaclofen in 16p11.2 Deletion

16P11.2 Deletion Syndrome

United States
Academic and Community Cancer Research United
National Cancer Institute (NCI)

Recruiting

Olaparib in Treating Patients With Metastatic Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations

Bile Duct Adenocarcinoma | Fanconi Anemia Complementation Group Gene Mutation | Metastatic Bile Duct Carcinoma | PTEN Gene Deletion

United States
University Hospital Tuebingen

Recruiting

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

Pregnancy

Germany
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
Emory University

Recruiting

Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome

Microdeletion 3q29 Syndrome | Microduplication 3q29 Syndrome

United States
Washington University School of Medicine

Recruiting

Immune Disorder HSCT Protocol

Severe Combined Immunodeficiency | Chronic Granulomatous Disease | DiGeorge Syndrome | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | X-linked Lymphoproliferative Syndrome | X-linked Agammaglobulinemia | Chediak-Higashi Syndrome | IPEX | Autoimmune Lymphoproliferative Syndrome | Common Variable... and other conditions

United States
Columbia University
National Institute of Neurological Disorders and Stroke (NINDS)

Recruiting

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) (NAMDC)

Mitochondrial Diseases | Mitochondrial Disorders | Mitochondrial Genetic Disorders | Disorder of Mitochondrial Respiratory Chain Complexes | Deletion and Duplication of Mitochondrial DNA

United States, Canada
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
The Chaim Sheba Medical Center

Recruiting

The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS)

Fragile X Syndrome | Williams Syndrome | Velocardiofacial Syndrome

Israel
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
National Heart, Lung, and Blood Institute (NHLBI)

Completed

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

Hypertension | Cardiovascular Disease | Williams Syndrome | Multisystem Developmental Disorder | Elastin Gene Deletion

United States
National Human Genome Research Institute (NHGRI)

Active, not recruiting

Natural History Study of Smith-Magenis Syndrome

Smith-Magenis Syndrome (SMS)

United States
Gesellschaft fur Medizinische Innovation - Hamatologie...
ClinAssess GmbH

Completed

Safety of Lenalidomide and Markers for Disease Progression in Patients With International Prognostic Scoring System (IPSS) Low- or Intermediate-1 Risk Myelodysplastic Syndromes (MDS) With Isolated del5q (MDS-LE-MON-5)

Myelodysplastic Syndromes

Germany
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
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
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
Nobias Therapeutics, Inc.

Completed

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

22q11 Deletion Syndrome

United States, Canada
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
NYU Langone Health

Enrolling by invitation

Self-Face Recognition After Face Transplantation

Disfigurement of Face

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
RTI International
University of North Carolina, Chapel Hill

Enrolling by invitation

Parent-Infant Inter(X)Action Intervention (PIXI)

Tuberous Sclerosis | Down Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Rett Syndrome | Turner Syndrome | Williams Syndrome | Angelman Syndrome | Chromosome 22q11.2 Deletion Syndrome | Klinefelter Syndrome | Phelan-McDermid Syndrome | Dup15Q Syndrome | Smith Magenis Syndrome

United States
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

Search clinical trials for: 1p36 deletion syndrome

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