Search clinical trials for: Chromosome Deletion

Total 2812 results

UniQure Biopharma B.V.

Recruiting

Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease

Fabry Disease

United States
Sarepta Therapeutics, Inc.

Recruiting

An Observational Study Comparing Delandistrogene Moxeparvovec With Standard of Care in Participants With Duchenne Muscular Dystrophy (ENDURE)

Duchenne Muscular Dystrophy

United States
Université de Sherbrooke
Canadian Institutes of Health Research (CIHR); Centre de recherche du Centre... and other collaborators

Not yet recruiting

Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X Syndrome (CANAX)

Fragile X Syndrome
Université de Sherbrooke
Canadian Institutes of Health Research (CIHR); Centre de recherche du Centre... and other collaborators

Not yet recruiting

Effect of CBD on the Brain

Fragile X Syndrome
Brunel University
Royal Free Hospital NHS Foundation Trust

Recruiting

A Co-designed Physical Activity Intervention in Fabry Disease

Fabry Disease

United Kingdom
iECURE, Inc.

Recruiting

An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency (OTC-HOPE)

Urea Cycle Disorders, Inborn | Ornithine Transcarbamylase Deficiency | Ornithine Transcarbamylase Deficiency Disease | Ornithine Carbamoyltransferase Deficiency (Disorder)

United Kingdom
Hospices Civils de Lyon

Not yet recruiting

Effect of Burosumab on the Inflammatory Profile of Patients With X-linked Hypophosphatemic Rickets FLAM-XLH (FLAM-XLH)

X-Linked Hypophosphatemic Rickets
Centre Hospitalier Universitaire de Liege
Centre Hospitalier Régional de la Citadelle; SYSNAV

Recruiting

Natural History Study for Patients With Angelman Syndrome (NatHisAngelman)

Angelman Syndrome

Belgium
Children's Hospital Medical Center, Cincinnati
Eunice Kennedy Shriver National Institute of Child Health and Human Development...

Recruiting

Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders (ENTRAIN)

Autism Spectrum Disorder | Autistic Disorder | Fragile X Syndrome | Asperger Syndrome

United States
University of Cambridge
Sanofi

Recruiting

Molecular Imaging in Fabry Disease of the Heart

Fabry Disease, Cardiac Variant

United Kingdom
Sardocor Corp.

Not yet recruiting

Modulation of SERCA2a of Intra-Myocytic Calcium Trafficking in Cardiomyopathy Secondary to Duchenne Muscular Dystrophy (MUSIC-DMD)

DMD-Associated Dilated Cardiomyopathy
bluebird bio
Center for International Blood and Marrow Transplant Research

Recruiting

A Study of Participants With Cerebral Adrenoleukodystrophy (CALD) Treated With Elivaldogene Autotemcel (Stargazer)

Cerebral Adrenoleukodystrophy (CALD)

United States
Nanfang Hospital, Southern Medical University

Recruiting

A Single-arm, Open-label Study of Olverembatinib, CD3/CD19 Bispecific T-cell Engager, and Chidamide in Patients With Newly Diagnosed Ph+ALL (ABC)

Acute Lymphoblastic Leukemia | Philadelphia Chromosome | Adult ALL | Philadelphia-Positive ALL | IKZF1 Gene Mutation

China
Boston University Charles River Campus
Boston Children's Hospital

Not yet recruiting

Harness-based Mobility Intervention for Infants With Down Syndrome

Down Syndrome

United States
Rocket Pharmaceuticals Inc.

Recruiting

Danon Disease Natural History Study

Danon Disease

United States, Germany
Richard Frye
Autism Discovery and Treatment Foundation

Recruiting

Patterns of Neurodevelopmental Disorders

Epilepsy | Neurodevelopmental Disorders | Autism Spectrum Disorder | Down Syndrome | Mitochondrial Encephalomyopathies | Pediatric Acute-Onset Neuropsychiatric Syndrome | Cerebral Folate Deficiency | Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection

United States
Children's Hospital of Fudan University

Not yet recruiting

Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease

Fabry Disease

China
Perha Pharmaceuticals
Fondation Jérôme Lejeune; European Innovation Council; France 2030 program

Recruiting

Leucettinib-21 First-in-Human Phase 1 in Healthy Volunteers and Subjects With Down Syndrome and Alzheimer's Disease (LEUCETTA)

Healthy Volunteers | Down Syndrome | Alzheimer's Disease

France
University Hospital, Strasbourg, France

Recruiting

Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome (Turner-Ylc)

Turner Syndrome

France
University College Cork

Not yet recruiting

Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography (DiFuSE)

Gestational Diabetes | Neonatal Encephalopathy | Diastolic Dysfunction | Trisomy 21 | Transient Tachypnea of the Newborn | Small for Gestational Age at Delivery

Ireland
Children's Hospital of Fudan University

Recruiting

Esketamine for the Treatment of Rett Syndrome

Rett Syndrome

China
University of Seville

Recruiting

The Coping With and Caring for Infants With Special Needs Intervention in Down Syndrome Infants

Down Syndrome | Physical Disability | Family

Spain
Servier Bio-Innovation LLC
Institut de Recherches Internationales Servier

Recruiting

S095035 in Adult Participants With Advanced or Metastatic Solid Tumors With Deletion of the Methylthioadenosine Phosphorylase (MTAP) Gene

MTAP-deleted Solid Tumors

Australia, United States
University of British Columbia

Not yet recruiting

Vitamin B12 and Folinic Acid Supplementation in Mitochondrial DNA Deletion Syndromes

Mitochondrial DNA Deletion | Macrocytosis
Azienda Ospedaliero-Universitaria di Modena

Recruiting

Role of Cardiac AngioMR in Diagnosis of Cardiac and Vascular Anomalies in Adult Patients With Turner Syndrome

Turner Syndrome | Anomaly Heart

Italy
Minoryx Therapeutics, S.L.

Recruiting

Disease Progression in Women With X-linked Adrenoleukodystrophy

X-linked Adrenoleukodystrophy

France
ACADIA Pharmaceuticals Inc.

Recruiting

Study of Carbetocin Nasal Spray for the Treatment of Hyperphagia in Prader-Willi Syndrome

Hyperphagia in Prader-Willi Syndrome

United States, Canada, United Kingdom
Qilu Hospital of Shandong University

Recruiting

Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy (SEARCH)

Fabry Disease | Hypertrophic Cardiomyopathy | Left Ventricular Hypertrophy

China
Gianni Soraru
Mario Negri Institute for Pharmacological Research

Recruiting

A Placebo-controlled Study of Clenbuterol in Spinal and Bulbar Muscular Atrophy (BetaSBMA)

Spinal and Bulbar Muscular Atrophy

Italy
National Institute for Mother and Child Health...
Marie Curie Emergency Children's Hospital, Bucharest; Victor Gomoiu Children...

Recruiting

Neutrophil Oxidative Burst in Early and Late Onset Pediatric Inflammatory Bowel Disease

Chronic Granulomatous Disease

Romania
Hospices Civils de Lyon

Recruiting

Study of Surgical Practices in Patients With Haemophilia A or B Treated With an Extended Half-life Recombinant Factor VIII-Fc or IX-Fc (ELOCTA®, ALPROLIX®) (CHALE)

Hemophilia A | Hemophilia B

France
Changhai Hospital

Not yet recruiting

Analyzing the Urine During BCG Instillation in Bladder Cancer Patients for Disease Followup

Bladder Cancer

China
Taysha Gene Therapies, Inc.

Recruiting

Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)

Rett Syndrome

United States, United Kingdom
Ionis Pharmaceuticals, Inc.

Recruiting

Orbit Study: A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356 in Participants With Pelizaeus Merzbacher Disease (PMD)

Pelizaeus-Merzbacher Disease

France, Netherlands, United States, Germany
safia Darweesh halwsh

Not yet recruiting

A Comparison of Cognitive-Motor Dual-Task Exercise and Exergaming on Balance, Functional Mobility, and Executive Function in Down Syndrome Children

Down Syndrome

Saudi Arabia
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders (DANNIgene)

Hemophilia A | Hemophilia B | Cystic Fibrosis | Sickle Cell Disease | Muscular Dystrophy, Duchenne | Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy | Autosomal Recessive Polycystic Kidney Disease | Neurofibromatosis-Noonan Syndrome | Muscular Dystrophy, Becker | Invasive PreNatal Diagnosis in a... and other conditions

France
Mitsubishi Tanabe Pharma America Inc.

Recruiting

INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP (INSPIRE)

Erythropoietic Protoporphyria (EPP) | X-Linked Protoporphyria (XLP)

Spain, United States, France, Japan, United Kingdom, Italy, Australia, Poland, Bulgaria, Czechia, Netherlands
Foundation for Prader-Willi Research
RTI International

Recruiting

A Clinical Evaluation of Non-Invasive Vagus Nerve Stimulation for Temper Outbursts in People With PWS (VNS4PWS)

Prader-Willi Syndrome

United States
Tianjin Central Hospital of Gynecology Obstetrics

Recruiting

The Relationship Between Fetal Membrane Thickness and Fetal Chromosomal Aneuploidies (PLACE2102)

Chromosome Aberrations

China
Solid Biosciences Inc.

Recruiting

A Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (INSPIRE DUCHENNE)

Duchenne Muscular Dystrophy

United States
Hoffmann-La Roche
Sarepta Therapeutics, Inc.

Recruiting

A Gene Delivery Study to Evaluate the Safety and Expression of Delandistrogene Moxeparvovec in Participants Under the Age of Four With Duchenne Muscular Dystrophy (DMD) (ENVOL)

Duchenne Muscular Dystrophy

Spain, Germany, Italy
National Cancer Institute (NCI)

Not yet recruiting

A Study Comparing the Combination of Dasatinib and Chemotherapy Treatment With or Without Blinatumomab for Children, Adolescents, and Young Adults With Philadelphia Chromosome Positive (Ph+) or Philadelphia Chromosome-Like (Ph-Like) ABL-Class B-Cell Acute Lymphoblastic Leukemia (B-ALL)

B Acute Lymphoblastic Leukemia
Affiliated Hospital of Guangdong Medical University

Not yet recruiting

Safety and Efficacy Clinical Study of Severe Hemophilia B Treatment With KL001

Hemophilia B Without Inhibitor
Vanderbilt University Medical Center

Recruiting

Wearable Technology to Evaluate Hyperglycemia and HRV in DMD

Duchenne Muscular Dystrophy

United States
Biocad

Recruiting

Study of the Safety, Pharmacodynamics and Efficacy of ANB-002 in Patients With Hemophilia B (SAFRAN)

Hemophilia B

Russian Federation
Zhejiang University

Not yet recruiting

Safety and Efficacy Clinical Study of Severe Hemophilia B Treatment With KL001

Hemophilia B Without Inhibitor
Université de Reims Champagne-Ardenne

Not yet recruiting

Gynaecological Follow-up of Women With Down Syndrom Aged 18 to 30 in France (Gyn-T21)

Down Syndrome

France
West China Hospital

Recruiting

A Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of Single Intravenous Infusion of JWK007 in Patients With Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy

China
AceLink Therapeutics, Inc.
Tigermed Consulting Co., Ltd

Recruiting

Study of the Safety and Biologic Activity of AL01211 in Treatment Naive Males With Classic Fabry Disease

Fabry Disease

China
Academisch Medisch Centrum - Universiteit van Amsterdam...

Recruiting

The AXIS Study: the Efficacy of Acetazolamide for the Treatment of Cystoid Fluid Collections in Retinoschisis (AXIS)

Retinoschisis

Netherlands

Search clinical trials for: Chromosome Deletion

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