Clinical Trials on Sex Chromosome Abnormalities in Italy

Total 1735 results

Azienda USL Modena

Completed

Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome

Klinefelter Syndrome | Steroidogenesis | Human Chorionic Gonadotropin (hCG) Stimulation

Italy
University of Roma La Sapienza

Completed

Androgen for Leydig Cell Proliferation (ALCeP)

Klinefelter Syndrome | Hypergonadotropic Hypogonadism | Hypergonadotropic Azospermia | Hypergonadotropic Cryptozoospermia

Italy
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
University of Roma La Sapienza

Completed

Thyroid Function and Structure IN Klinefelter Syndrome (THINKS)

Hypothyroidism | Thyroiditis, Autoimmune | Klinefelter Syndrome

Italy
Merck KGaA, Darmstadt, Germany
Merck Serono S.A., Geneva

Completed

First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study

Turner Syndrome | Idiopathic Growth Hormone Deficiency

Spain, France, Canada, United Kingdom, Czech Republic, Argentina, Germany, Italy, Sweden
Merck KGaA, Darmstadt, Germany

Completed

Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®

Growth Hormone Deficiency | Turner Syndrome

Argentina, Australia, Austria, Canada, France, Germany, Italy, Norway, Russian Federation, Singapore, Spain, Sweden, United Kingdom
Ipsen

Completed

Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq (OPTIMA)

Renal Insufficiency, Chronic | Pituitary Diseases | Dwarfism | Turner Syndrome

France, Germany, Finland, Spain, Belgium, Czechia, Denmark, Greece, Italy, Romania, Russian Federation, Slovakia, Ukraine, United Kingdom
Igenomix

Completed

Clinical Value of Mosaicism Diagnosis on the Trophectoderm Biopsies (NS-MOSAICISM)

Aneuploidy | Chromosome Abnormality

Italy
Novartis

Completed

Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients

Fragile X Syndrome

France, Italy, Switzerland
IRCCS Fondazione Stella Maris

Recruiting

Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome

Fragile X Syndrome

Italy
Novo Nordisk A/S

Recruiting

A Research Study to Compare Somapacitan Once a Week With Norditropin® Once a Day in Children Who Need Help to Grow (REAL 8)

SGA, Turner Syndrome, Noonan Syndrome, ISS

Korea, Republic of, United States, Ireland, United Kingdom, Finland, France, Netherlands, Japan, Thailand, Belgium, China, Israel, Brazil, India, Portugal, Austria, Bulgaria, Canada, Croatia, Germany, Greece, Malaysia, Poland, Saudi Arabia and more
Cervesi Hospital, Cattolica, Italy

Unknown

Genomic DNA in Human Blastocoele Fluid

Chromosomal Aneuploidies | Single Gene Desease

Italy
Bambino Gesù Hospital and Research Institute
Autour Des Williams; Acea

Unknown

Cooperative Parent Mediated Therapy in Children With Fragile X Syndrome and Williams Syndrome

Fragile X Syndrome | Williams Syndrome

Italy
Igenomix

Recruiting

RCT Study to Validate niPGT-A Clinical Benefit. (niPGT-A_RCT)

Infertility | Aneuploidy | Chromosome Abnormality

France, Argentina, Spain, United States, Brazil, Italy
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
Igenomix

Completed

Multi-center Study to Validate niPGT-A (niPGT-A)

Infertility | Aneuploidy | Chromosome Abnormality

Mexico, Turkey, United States, Argentina, Spain, Brazil, Italy, Peru
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
PerkinElmer, Wallac Oy
Azienda Ospedaliera Città della Salute e della Scienza di Torino

Unknown

Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)

Trisomy 21 | Trisomy 18 | Trisomy 13

Italy
Novartis Pharmaceuticals

Terminated

Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome

Fragile X Syndrome

Germany, United States, Switzerland, Australia, Canada, Denmark, France, Italy, United Kingdom, Spain
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
Novartis Pharmaceuticals

Completed

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

Fragile X Syndrome

United States, Switzerland, Germany, Australia, Canada, Denmark, France, Italy, Spain, United Kingdom
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
University of Roma La Sapienza

Unknown

Sexual Hormones and Haemostasis: Observations for Women Health (SHOW)

Gender | Sex

Italy
Fondazione IRCCS Ca' Granda, Ospedale Maggiore...
Federico II University; Istituto Auxologico Italiano; Università degli Studi...

Recruiting

Maternal Genes and Epimutations: Beckwith-Wiedemann Syndrome & Reproductive Risks

Beckwith-Wiedemann Syndrome

Italy
Fondazione per la Ricerca Ospedale Maggiore

Completed

Italian Angelman Syndrome Registry Protocol (RISA)

Angelman Syndrome

Italy
Fondazione Policlinico Universitario Agostino Gemelli...

Suspended

Evaluation of Patients With Down Syndrome Compliance to Dental Therapy

Down Syndrome

Italy
Stefano Vicari
Italian Institute of Technology (IIT)

Recruiting

Efficacy of Bumetanide to Improve Cognitive Functions in Down Syndrome

Down Syndrome

Italy
IRCCS Eugenio Medea
University of Trieste

Recruiting

Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development (Body-PROBAND)

Body Image | Beckwith-Wiedemann Syndrome | Sotos Syndrome | Body Schema | Overgrowth Syndrome

Italy
Azienda Usl di Bologna

Unknown

Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER) (SAPERER)

Autosomal Aneuploidy

Italy
IRCCS Eugenio Medea

Recruiting

Study of the Prevalence of Autistic Traits in Angelman Syndrome

Angelman Syndrome

Italy
Roche Sequencing Solutions
Perinatal Quality Foundation: Nuchal Translucency Quality Review

Completed

Non-invasive Chromosomal Examination of Trisomy Study (NEXT)

Trisomy 21

United States, Belgium, Netherlands, Sweden, Italy, Canada
Women and Infants Hospital of Rhode Island
Sequenom, Inc.

Completed

A New Prenatal Blood Test for Down Syndrome (RNA)

Down Syndrome | Trisomy 21

United States, Canada, Israel, Hungary, Ireland, Argentina, Australia, Czech Republic, Italy, Spain
Women and Infants Hospital of Rhode Island
PerkinElmer, Inc.

Completed

VAlidation of a Lower Cost aneUploidy scrEen (VALUE)

Down Syndrome | Trisomy 18 | Trisomy 13

United States, Canada, Italy
IRCCS Eugenio Medea

Recruiting

Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy

Epilepsy | Angelman Syndrome | Dup15q Syndrome

Italy
Istituto Auxologico Italiano

Recruiting

Biological Age Assessment in Adults With Prader-Willi Syndrome (ETABIOLPWS) (ETABIOLPWS)

Prader-Willi Syndrome

Italy
Federico II University

Recruiting

A Pilot Study for Implementation of First Trimester Screening of Aneuploidies in Campania Region (PISTA)

Aneuploidy

Italy
Federico II University

Completed

First Trimester Risk Assessment Based on Ultrasound and Cell-free DNA vs Combined Screening

Aneuploidy

Italy
Istituto Auxologico Italiano

Recruiting

Evaluation of the Psychological Profile of Adult Patients With Prader-Willi Syndrome (PROPSICOPWS)

Prader-Willi Syndrome

Italy
Istituto Auxologico Italiano

Completed

Characterization of Serum Proteome in Subjects With Prader Willi Syndrome (PROTEOMARKER) (PROTEOMARKER)

Prader-Willi Syndrome

Italy
University of Pavia

Enrolling by invitation

Clinical Comparison of a Postbiotic-gel With Placebo Gel for Gingival Inflammation in Patients With Down Syndrome

Down Syndrome | Gingival Bleeding

Italy
Federico II University

Recruiting

Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment (CareOnTIME)

Congenital Adrenal Hyperplasia

Italy
European Hospital

Unknown

The Results of Preimplantation Genetic Diagnosis and Preimplantation Genetic Screening of Embryos Obtained From GnRH-agonist Long and GnRH-antagonist Ovarian Stimulation Protocol

Embryo's Genetic and Chromosomal Quality

Italy
Natera, Inc.
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Terminated

Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS)

Aneuploidy | Trisomy 21 | Trisomy 18 | Trisomy 13

United States, Ireland, Canada, Italy, Korea, Republic of, Spain
Novartis Pharmaceuticals

Completed

Nilotinib and LDE225 in the Treatment of Chronic or Accelerated Phase Myeloid Leukemia in Patients Who Developed Resistance to Prior Therapy

Philadelphia Chromosome Positive Chronic Myelogenous Leukemia

Germany, Canada, France, Spain, Italy
Ionis Pharmaceuticals, Inc.
Biogen

Active, not recruiting

HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome

Angelman Syndrome

United States, Israel, Italy, France, Australia, United Kingdom
Meyer Children's Hospital IRCCS

Recruiting

The Role of Renal Progenitors and Polyploid Tubular Cell Response in Glomerular and Tubular Diseases

Nephropathy

Italy
Hoffmann-La Roche

Active, not recruiting

A Study To Investigate The Safety, Tolerability, Pharmacokinetics And Pharmacodynamics Of RO7248824 In Participants With Angelman Syndrome

Angelman Syndrome

United States, Spain, Netherlands, Italy
Hoffmann-La Roche

Completed

A Non-Drug Study of The Suitability of Neurocognitive Tests And Functioning Scales For The Measurement of Cognitive And Functioning Changes in Individuals With Down Syndrome

Down Syndrome

United States, France, Italy, Canada, United Kingdom, Argentina, Spain
Novartis Pharmaceuticals

Completed

An Extension Study of the Safety and Anti-leukemic Effects of Imatinib Mesylate in Participants With Philadelphia Chromosome-positive Chronic Myeloid Leukemia in Blast Crisis

Philadelphia Chromosome Positive CML

United States, Germany, Italy, France
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

United States, Australia, Italy, France, Spain, Germany

Clinical Trials on Sex Chromosome Abnormalities in Italy

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