Clinical Trials on Chromosome Deletion in United Kingdom

Total 747 results

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
Alexander Kolevzon

Completed

Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

Phelan-McDermid 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
University of Arkansas
St. Christopher's Hospital for Children

Completed

Mitochondrial Dysfunction in Phelan-McDermid Syndrome

Phelan-McDermid Syndrome

United States
Swathi Sethuram

Completed

Growth Hormone Treatment in Children With 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
National Institutes of Health Clinical Center (CC)

Completed

Leucovorin for the Treatment of 5 q Minus Syndrome

Myelodysplastic Syndrome | 5q Minus 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
Reproductive Medicine Associates of New Jersey

Completed

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

Balanced Chromosomal Translocation

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
University of Surrey

Recruiting

Effects of a Supplement to Target Ageing Mechanisms on Vascular Function (STAMINA) (STAMINA)

Healthy Aging | Vascular Dilation

United Kingdom
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
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
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
Innovation Research & Training

Recruiting

Mindfulness Program for Adolescents With 22q11DS

22Q11 Deletion Syndrome

United States
University of Liverpool

Completed

Increased Proportion of Lower Energy Density Items vs. Nutritional Labelling at an Online Supermarket

Diet, Healthy | Food Selection

United Kingdom
University of Liverpool

Completed

Effect of kcal and PACE Labelling on Self-served Portion Size

Diet, Healthy | Food Selection

United Kingdom
London North West Healthcare NHS Trust
Imperial College Healthcare NHS Trust

Not yet recruiting

Consequences of Obstetric Anal Sphincter Injuries on Maternal Psychology and Relationship Experience (COMPaRE)

Mental Health Impairment | Obstetric Complication | Incontinence | Perineal Tear | Obstetric Trauma | Relation, Mother-Child | Relation, Family

United Kingdom
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
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
South West Yorkshire Partnership NHS Foundation...

Unknown

Service Users' Perspective of Reasons for Detention Under Section 136 of the Mental Health Act 1983

Reasons for Detention Under Mental Health Act 1983

United Kingdom
University of Glasgow

Terminated

Evaluation of the Normal Range of Urinary Sodium Levels in Healthy Newborn Babies (USALTI)

Growth Failure | Stoma Ileostomy | Stoma Colostomy | Electrolyte Depletion

United Kingdom
Center for Reproductive an Genetic Health

Unknown

The Effectiveness of Blastocentesis Versus Trophectoderm Biopsy

Abnormal Karyotype

United Kingdom
Children's Healthcare of Atlanta

Terminated

Prevalence and Clinical Spectrum of the 22q11 Deletion

Congenital Disorders

United States
Premaitha Health

Completed

A Safer Pre-Natal Diagnosis Using Free DNA in Maternal Blood (IONA)

Aneuploidy, NIPT

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
Unilever R&D
King's College London

Completed

Flow Mediated Dilation in Response to Black Tea (T)

Vascular Function

United Kingdom
Nobias Therapeutics, Inc.

Completed

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

22q11 Deletion Syndrome

United States, Canada
University of Liverpool

Completed

Increasing Availability of Lower Energy Meals on Food Choice and Intake

Obesity | Diet, Healthy | Food Selection | Eating Behavior

United Kingdom
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
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
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
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
State University of New York - Upstate Medical...
Albert Einstein College of Medicine

Completed

Genetic Modifiers for 22q11.2 Syndrome (VCFS)

22q11.2 Deletion Syndrome

United States
Novo Nordisk A/S

Completed

Use of Somatropin in Turner Syndrome

Turner Syndrome | Genetic Disorder

United Kingdom
University of Oxford

Completed

Recovery From Paranoia: a Qualitative Exploration

Persecutory Delusion | Paranoia

United Kingdom
University of Reading
University of Warsaw; AZTI Spain; Maspex Poland; Natural Machines Spain

Completed

New Food Solutions for Cancer Patients (Oncofood)

Cancer Patients | Taste Disorders | Food Selection

United Kingdom
Columbia University
Universitat Autonoma de Barcelona; Instituto de Salud Carlos III; University... and other collaborators

Active, not recruiting

Treatment of TK2 Deficiency With Thymidine and Deoxycytidine

Thymidine Kinase 2 Deficiency | Mitochondrial DNA Depletion Syndrome 2 Myopathic Type

United States
Duke University
National Institute of Mental Health (NIMH); University of Pittsburgh; Harvard...

Completed

Cognitive Remediation in 22q11DS

22q11.2 Deletion Syndrome | Velo-Cardio-Facial Syndrome

United States
University of Liverpool

Completed

Increasing Availability of Lower Energy Meals vs. Menu Energy Labelling on Food Choice

Obesity | Diet, Healthy | Food Selection | Nutrition Poor

United Kingdom
BioCeryx
University of British Columbia; University College London Hospitals; Brugmann... and other collaborators

Unknown

Automated Screen for Fetal Aneuploidy (FAST1)

Trisomy 21 and Other Fetal Aneuploidy

Australia, United Kingdom, Spain, Canada, Belgium, Portugal
Pharmacyclics LLC.
Janssen Research & Development, LLC

Completed

A Multicenter Phase 2 Study of Ibrutinib in Patients With Relapsed or Refractory Chronic Lymphocytic Leukemia (CLL) or Small Lymphocytic Lymphoma (SLL) With 17p Deletion

Chronic Lymphocytic Leukemia With 17p Deletion | Small Lymphocytic Lymphoma With 17p Deletion

United States, United Kingdom, Belgium, Germany, Turkey, Australia, Canada, New Zealand, Sweden
Clinical Research Associates, LLC

Recruiting

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

16P11.2 Deletion Syndrome

United States
King's College London

Completed

Azacytidine for the Treatment of Myelodysplastic Syndromes/Acute Myeloid Leukemia (MDS/AML) With High Risk (Chromosome 7 and or Complex) Cytogenetic Abnormalities

Myelodysplastic Syndromes | Leukemia, Myeloid, Acute

United Kingdom
Axis Shield Diagnostics Ltd
The Clinical Trial Company

Completed

Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA Centaur PAPPA and BhCG Assays

Trisomy 21 in Fetus | Trisomy 18 in Fetus | Trisomy 13 in Fetus

United Kingdom
Massachusetts General Hospital
Greater Boston Food Bank

Terminated

A Trial of Traffic Light Labeling With Behavioral Nudges and a Healthy Recipe Database to Increase Selection of Healthier Foods in Client-choice Food Pantries

Food Selection

United States
Stanford University
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Encouraging Healthy and Sustainable Dietary Substitutions

Food Selection

United States

Clinical Trials on Chromosome Deletion in United Kingdom

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