Clinical trials: Sex Chromosome Disorders
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Turner Syndrome, Hypogonadism; Ovarian
Determining Dose Equivalence Between Oral and Transdermal Estrogen Treatment in Women With Turner Syndrome
This 5-week, phase IV randomized crossover trial aims to compare the effects of oral versus transdermal estrogen replacement therapy (ERT) in women with Turner syndrome (TS).
- Conditions
- Turner Syndrome, Hypogonadism; Ovarian, Hormone Replacement Therapy, Estrogen Replacement Therapy
- Trial name
- NCT06544473
- Testing
- 17-beta estradiol
- Where
- Denmark
- Volunteers
- 50 people
- Sponsor
- Aarhus University Hospital
Klinefelter Syndrome (47, XXY), Sex Chromosome Aneuploidy
Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy
Mosaic sex chromosome aneuploidy 47,XXY/46,XX is an exceptionally rare variant within the spectrum of Klinefelter syndrome. Available data remain limited, especially regarding adult phenotype and long-term characteristics, and no…
- Conditions
- Klinefelter Syndrome (47, XXY), Sex Chromosome Aneuploidy, Disorders of Sex Development (DSD), Sex Chromosome Disorders
- Trial name
- MOSAI-XX (NCT07885163)
- Where
- France
- Volunteers
- 257 people
- Sponsor
- Université Paris-Saclay
Klinefelter Syndrome, Thrombosis
Thrombosis and Neurocognition in Klinefelter Syndrome
The haemostatic balance and neurocognitive capability of men with Klinefelter syndrome is compared to healthy controls by using specific biochemical assays for coagulation and fibrinolysis and a selection of neuropsychological…
- Trial name
- NCT02526628
- Where
- Denmark
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Fragile X Syndrome
AFQ056 for Language Learning in Children With FXS
The purpose of this clinical trial is to investigate the impact of AFQ056 on language learning in 3-6 year old children with Fragile X Syndrome (FXS).
- Trial name
- FX-LEARN (NCT02920892)
- Testing
- AFQ056, Language Intervention
- Where
- 14 sites in United States
- Volunteers
- 110 people
- Sponsor
- Elizabeth Berry-Kravis
Fragile X Syndrome, Metformin
Metformin in Children With Fragile X Syndrome
This study is a controlled trial of metformin in children with fragile X syndrome(FXS). The age of FXS children range from 2 to 16 years old.
- Trial name
- NCT05120505
- Testing
- Metformin
- Where
- China
- Volunteers
- 37 people
- Sponsor
- Children's Hospital of Fudan University
Turner's Syndrome
Initiating Transdermal Estradiol Therapy in Turner's Syndrome
This is a multicenter, randomized, controlled, semi-blinded study to compare two low doses of estradiol administered by recently available transdermal patches for the initiation of puberty in Turner syndrome girls 11.5-13.0 years…
- Trial name
- NCT00870220
- Testing
- Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch
- Where
- 3 sites in United States
- Volunteers
- 1 people
- Sponsor
- University of Chicago
Fragile X Syndrome
Trial of Minocycline to Treat Children With Fragile X Syndrome
This is a single center study at the UC Davis MIND Institute in patients age 3.5-16 years of age with fragile X syndrome (FXS), funded by a National Fragile X Foundation Grant.
- Trial name
- NCT01053156
- Testing
- minocycline hydrochloride
- Where
- United States
- Volunteers
- 66 people
- Sponsor
- University of California, Davis
Pregnancy, Down Syndrome
Comparison of Aneuploidy Risk Evaluations
This is a prospective, multi-center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in…
- Conditions
- Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome
- Trial name
- CARE (NCT01663350)
- Where
- 26 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Verinata Health, Inc.
Down Syndrome, Edwards Syndrome
Whole Blood Specimen Collection From Pregnant Subjects
To obtain whole blood specimens from pregnant subjects to be used for research and development and clinical validation studies of prenatal assays.
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02430584
- Testing
- Observational - no intervention
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Progenity, Inc.
Fragile-X Syndrome
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to evaluate characteristics, management and patient and caregiver-related outcomes the quality of life of Families and patients with FXS and…
- Trial name
- EXPLAIN (NCT01711606)
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- Novartis Pharmaceuticals
Marfan Syndrome, Loeys-Dietz Syndrome
Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
The primary objective of this study is to determine whether specific patterns of circulating micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in patients with hereditary aortopathy syndromes.
- Conditions
- Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes, Ehlers-Danlos Type IV Syndrome
- Trial name
- NCT02213484
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Turner's Syndrome
Turner Syndrome: Genotype and Phenotype
This study examines the clinical and genetic factors related to Turner syndrome, a disorder of the sex chromosomes. Humans usually have 23 pairs of chromosomes-thin strands of DNA-in the nucleus of every cell, which contain genes…
- Trial name
- NCT00006334
- Where
- United States
- Volunteers
- 1,017 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Turner Syndrome
Growth Hormone Treatment of Women With Turner Syndrome
Growth hormone treatment is used in girls with Turner syndrome to increase final height. The aim of this study is to evaluate the effect of growth hormone treatment on body composition and heart function in adult women with…
- Trial name
- NCT00420654
- Testing
- Growth Hormone, Healthy controls
- Where
- Denmark
- Volunteers
- 24 people
- Sponsor
- Britta E. Hjerrild
Fragile X Syndrome, Disruptive Behavior
Treatment of Disruptive Behaviors in Fragile X Syndrome
Disruptive behaviors such as self-injury, aggression, and property destruction pose significant health-related issues to children diagnosed with fragile X syndrome (FXS), impacting the child's quality of life and causing…
- Trial name
- NCT03510156
- Testing
- Behavior analytic treatment
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Stanford University
Anomaly Heart, Turner Syndrome
Role of Cardiac AngioMR in Diagnosis of Cardiac and Vascular Anomalies in Adult Patients with Turner Syndrome
Considering the high prevalence of cardiovascular disease in Turner syndrome patients, noninvasive cardiac imaging is crucial for diagnosis and follow-up.
- Trial name
- NCT06178887
- Testing
- imaging
- Where
- Italy
- Volunteers
- 33 people
- Sponsor
- Azienda Ospedaliero-Universitaria di Modena
Turner Syndrome, Hypogonadism
Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
The study attempts to evaluate if the way of administering estrogen, the principal female hormone, via patches or orally, affects the way estrogen works in girls with Turner Syndrome.
- Conditions
- Turner Syndrome, Hypogonadism, Premature Ovarian Failure
- Trial name
- NCT00140998
- Testing
- 17 beta estradiol
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Nemours Children's Clinic
Fragile X Syndrome
Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X Syndrome
This is an open label exploratory study to investigate the safety and effects of a single dose of NPL-2009(50 mg - 150 mg) on Prepulse Inhibition (PPI) Tests and Continuous Performance Tasks (CPT) in adults with Fragile X Syndrome
- Trial name
- NCT00637221
- Testing
- NPL-2009
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Neuropharm
X Fragile Syndrome
Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome
The purpose of this study is to determine vitamin C and vitamin E in combination are effective in the treatment of cognitive and behavior disorder in children with fragile X syndrome.
- Trial name
- SXF2-8 (NCT02942498)
- Testing
- Vitamin C 10mg/Kg Vitamin E 10 mg/Kg
- Where
- Spain
- Volunteers
- 34 people
- Sponsor
- Fundación Pública Andaluza para la Investigación de Málaga en Biomedicina y Salud