Clinical Trials on Sex Chromosome Abnormality

Total 1766 results

Radboud University Medical Center

Recruiting

Turner Syndrome Minipuberty Study (Minipuberty)

Ovarian Diseases | Sex Chromosome Disorders | Infertility, Female | Turner Syndrome | Gonadal Dysgenesis | Premature Ovarian Failure | Premature Menopause

Netherlands, Germany, Poland, Sweden, Denmark
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
University of Nebraska Lincoln
Centers for Disease Control and Prevention; The Set Me Free Project; Des Moines...

Recruiting

Preventing Commercial Sexual Exploitation of Children (Project LIVE)

Sexual Violence | Sex Trafficking | Child Abuse, Sexual | Sex Crimes | Commercial Sex | Sex Offense

United States
Centre Hospitalier Universitaire Dijon

Unknown

Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene (OFD1)

Orofaciodigital Syndromes

France
Centre Hospitalier Universitaire, Amiens
Centre Henri Becquerel; Hôpital Jeanne de Flandre LIlle

Recruiting

Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities (MYELOCARTOCH)

Myeloproliferative Neoplasm | Optical Genome Mapping | Cytogenetics | Clonality | Prognostic Stratification

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

Not yet recruiting

Growing up With the Young Endocrine Support System (YESS!) (YESS)

Congenital Adrenal Hyperplasia | Hypogonadotropic Hypogonadism | Growth Hormone Deficiency | Turner Syndrome | Addison's Disease | Klinefelter Syndrome | Combined Pituitary Hormone Deficiency | Androgen Insensitivity Syndrome | Thyroid Dysgenesis

Spain, United Kingdom, Belgium, Netherlands
University of Colorado, Denver

Completed

Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes

Marfan Syndrome | Turner Syndrome | Loeys-Dietz Syndrome | Thoracic Aortic Aneurysm and Dissection Syndromes | Ehlers-Danlos Type IV Syndrome

United States
University of California, San Francisco
Patient-Centered Outcomes Research Institute

Completed

Health-E You: Reducing Unintended Pregnancies Among Hispanic Adolescents

Unsafe Sex | Unprotected Sex

United States
National Institute of Diabetes and Digestive and...

Recruiting

Natural History of Noncirrhotic Portal Hypertension

Cystic Fibrosis | Turner Syndrome | Congenital Hepatic Fibrosis | Immunologic Deficiency Syndrome | Idiopathic Non-Cirrhotic Portal Hypertension

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

Completed

Neurophysiological and Acute Pharmacological Studies in FXS Patients

Fragile X Syndrome

United States
Seaside Therapeutics, Inc.

Completed

Biomarker and DNA Collection in Subjects Participating in Protocol 22003

Fragile X Syndrome

United States
Seaside Therapeutics, Inc.
National Institutes of Health (NIH)

Completed

A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107

Fragile X Syndrome

United States
Children's Hospital Medical Center, Cincinnati

Recruiting

Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG

Fragile X Syndrome

United States
Esoterix Genetic Laboratories, LLC

Unknown

Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay

Fragile X Syndrome

United States
The University of Hong Kong

Completed

Study Proposal for Web Based Intervention to Promote the Safe Usage of Dating Applications in Young Adults

Adolescent Behavior | Behavior, Sex | Sex, Unsafe

Hong Kong
Massachusetts General Hospital
National Institutes of Health (NIH)

Unknown

Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women

Healthy | Fragile X 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
Craig Erickson
Healx Limited

Recruiting

Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)

Fragile X Syndrome

United States
Elizabeth Berry-Kravis

Completed

Single Blind Study of Ergoloid Mesylates, 5-HTP and the Combination in Adult Males With Fragile X Syndrome

Fragile X Syndrome

United States
Novartis Pharmaceuticals

Completed

Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)

Fragile X Syndrome

United States, Spain
Rowan University
University of Pennsylvania; FRAXA Research Foundation

Unknown

Metformin in Patients With Fragile X

Fragile X Syndrome

United States
Hoffmann-La Roche

Completed

A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome

Fragile X Syndrome

United States
Hoffmann-La Roche

Completed

A Study of RO4917523 in Patients With Fragile X Syndrome

Fragile X Syndrome

France, Spain, United States, Peru, Canada, United Kingdom, Chile, Argentina, Mexico, Sweden
Yolanda de Diego Otero

Completed

Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome (SXF-TRA152)

Fragile X Syndrome

Spain
Seaside Therapeutics, Inc.

Completed

Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome

Fragile X Syndrome

United States
Seaside Therapeutics, Inc.

Terminated

An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome

Fragile X 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
Novo Nordisk A/S

Completed

Observational Prospective Study on Patients Treated With Norditropin®

Chronic Kidney Disease | Turner Syndrome | Noonan Syndrome | Chronic Renal Insufficiency | Growth Hormone Disorder | Growth Hormone Deficiency in Children | Adult Growth Hormone Deficiency | Genetic Disorder | Foetal Growth Problem | Small for Gestational Age

Israel, Saudi Arabia, Spain, Argentina, Russian Federation, Germany, Netherlands, Italy, Belgium, United Kingdom, Slovenia, Ireland, Sweden, Denmark, Hungary, Finland, Norway, France, Czechia, Lithuania, Luxembourg, Serbia, Switzerland
University of North Carolina, Chapel Hill
National Human Genome Research Institute (NHGRI); East Carolina University; Mission...

Active, not recruiting

North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 (NCGENES2)

Neuromuscular Diseases | Movement Disorders | Intellectual Disability | Autism Spectrum Disorder | Microcephaly | Hearing Loss | Genetic Disease | Inborn Errors of Metabolism | Epilepsy; Seizure | Brain Malformation | Hypotonia | Development Delay | Chromosome Abnormality | Dysmorphic Features | Skeletal Dysplasia | Congenital... and other conditions

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
Tetra Discovery Partners

Recruiting

A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) With Fragile X Syndrome

Fragile X Syndrome

United States
Children's Hospital of Fudan University

Recruiting

Metformin in Children With Fragile X Syndrome

Fragile X Syndrome | Metformin

China
Tetra Discovery Partners

Enrolling by invitation

An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome

Fragile X Syndrome

United States
Healx Limited

Withdrawn

Investigation of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in Male Fragile X Syndrome Patients Aged 13-40 (IMPACT-FXS)

Fragile X Syndrome

United States, Australia
Children's Hospital Medical Center, Cincinnati

Completed

An Initial Study of AZD7325 in Adults With Fragile X Syndrome

Fragile X Syndrome

United States
Université de Sherbrooke
FRAXA Research Foundation

Completed

Metformin in Children and Adults With Fragile X Syndrome

Fragile X Syndrome

Canada
Novartis

Completed

Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients

Fragile X Syndrome

France, Italy, Switzerland
Neuren Pharmaceuticals Limited

Completed

A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome

Fragile X Syndrome

United States
Randi J. Hagerman, MD

Completed

Trial of Sertraline to Treat Children With Fragile X Syndrome

Fragile X Syndrome

United States
Indiana University
Indiana Clinical and Translational Sciences Institute

Completed

Riluzole in Fragile X Syndrome

Fragile X Syndrome

United States
Indiana University School of Medicine

Completed

A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome

Fragile X Syndrome

United States
Hoffmann-La Roche

Completed

A Study With RO4917523 in Patients With Fragile X Syndrome

Fragile X Syndrome

United States
Novartis Pharmaceuticals

Terminated

Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)

Fragile X Syndrome

United States, Belgium, Australia, Israel, Switzerland, Germany, Denmark, Italy, Netherlands, Spain, Sweden, United Kingdom, France
Stanford University
National Institute of Mental Health (NIMH); Autism Speaks

Completed

Randomized Controlled Study of Donepezil in Fragile X Syndrome

Fragile X Syndrome

United States
Novartis Pharmaceuticals

Terminated

EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes (EXPLAIN)

Fragile-X Syndrome

Germany
FRAXA Research Foundation
Fragile X Research Foundation of Canada

Completed

Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome

Fragile X Syndrome

Canada
Novartis Pharmaceuticals

Completed

Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome

Fragile X Syndrome

United States, Belgium, Australia, Israel, Switzerland, Germany, France, Canada, Denmark, Indonesia, Italy, Netherlands, Spain, Sweden, Turkey, United Kingdom
Seaside Therapeutics, Inc.

Completed

Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001

Fragile X Syndrome

United States
Seaside Therapeutics, Inc.

Completed

Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome (Harbor-A)

Fragile X Syndrome

United States
Seaside Therapeutics, Inc.

Terminated

An Open Label Extension Study in Subjects With Fragile X Syndrome (209FX303)

Fragile X Syndrome

United States

Clinical Trials on Sex Chromosome Abnormality

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