Clinical trials: Turner's Syndrome
Endocrinology, Disorders of Sexual Development
Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon
Variations in genital development (VDG) account for 0.5% to 1% of births. Advances in ultrasound techniques, as well as in prenatal diagnosis techniques, particularly in genetics, have led to improvements in the prenatal…
- Conditions
- Endocrinology, Disorders of Sexual Development, Prenatal Diagnosis, Psychology
- Trial name
- PECAN-VDG (NCT06687252)
- Where
- France
- Volunteers
- 170 people
- Sponsor
- Hospices Civils de Lyon
Craniopharyngioma, Hypothalamic Obesity
Intranasal Oxytocin in Hypothalamic Obesity
This research study will test if oxytocin, delivered by nasal spray, will promote weight loss in children, adolescents, and adults with Hypothalamic Obesity as compared to a placebo. The study is divided into two parts.
- Trial name
- NCT02849743
- Testing
- Syntocinon
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Shana McCormack, MD
Turner Syndrome
Effect of Growth Hormone on Early Brain Development in Girls With Turner Syndrome
The purpose of this research study is to learn about brain development in very young girls with Turner syndrome (TS) and the effect that growth hormone (GH) therapy has on early brain development.
- Trial name
- NCT01367834
- Testing
- somatotropin
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Rebecca Knickmeyer Santelli, PhD
Turner Syndrome
Inspiring New Science In Guiding Healthcare in Turner Syndrome Registry
INSIGHTS is a registry research study that collects key information on medical history for girls and women with Turner syndrome and the clinical care they receive.
- Trial name
- INSIGHTS (NCT05052606)
- Testing
- No intervention
- Where
- 10 sites in United States
- Volunteers
- 5,000 people
- Sponsor
- University of Colorado, Denver
Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form
A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with…
- Conditions
- Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form, Septo-Optic Dysplasia, Optic Nerve Hypoplasia
- Trial name
- NCT06760546
- Testing
- Setmelanotide
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 39 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Turner Syndrome
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality.
- Trial name
- Turner-Ylc (NCT06202846)
- Testing
- cfDNA analysis
- Where
- 2 sites in France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Strasbourg, France
Turner Syndrome
Sex Differences in Early Brain Development; Brain Development in Turner Syndrome
Relative risk for many psychiatric disorders differs dramatically in males and females. Early-onset disorders, such as autism, occur more often in males; other conditions, such as schizophrenia, occur at similar rates in males…
- Trial name
- NCT00877942
- Where
- United States
- Volunteers
- 295 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Turner Syndrome
Cardiopulmonary Exercise Testing in Girls (8-18y) with Turner Sydrome.
The goal of this clinical trial is to have a beter insight in the exercise tolerance in girls with Turner Syndrome aged 8-18 years .
- Trial name
- NCT06780514
- Testing
- Cardiopulmonary exercise test
- Where
- Belgium
- Volunteers
- 20 people
- Sponsor
- University Hospital, Ghent
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Growing up With the Young Endocrine Support System (YESS!)
Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out…
- Conditions
- Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Growth Hormone Deficiency, Combined Pituitary Hormone Deficiency
- Trial name
- YESS (NCT04252001)
- Testing
- YESS! game, Snake '97, Transition-toolkit
- Where
- 7 sites in Belgium, Netherlands and 2 more
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Sex Chromosome Abnormality, Klinefelter Syndrome
Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype
Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns.
- Conditions
- Sex Chromosome Abnormality, Klinefelter Syndrome, Turner Syndrome, Metabolic Disease
- Trial name
- EMKISCA (NCT05425953)
- Testing
- No intervention other than obtaining biopsies
- Where
- Denmark
- Volunteers
- 320 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Gonadal Dysgenesis, Turner's Syndrome
The Effects of Estrogen on Cognition in Girls With Turner Syndrome
The development of the brain in females is a result of a combination of factors. During puberty estrogen plays a role in influencing brain development.
- Trial name
- NCT00001253
- Testing
- cognitive tests and scales
- Where
- United States
- Volunteers
- 950 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Turner Syndrome
Aortic Dimensions in Turner Syndrome
An observational study of 102 women with Turner syndrome followed for 6 years with a two-yearly examination including ECHO, MRI of the heart and 24 ambulatory blood pressure.
- Trial name
- NCT00624949
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Turner Syndrome
Is There a Link Between Inflammation and Endocrinopathies in Turner Syndrome?
Liver abnormalities are common in Turner syndrome. The physiopathology of these abnormalities is unknown for the moment but their potentially serious evolution requires additional explorations.
- Trial name
- NCT05473091
- Testing
- no intervention
- Where
- France
- Volunteers
- 179 people
- Sponsor
- Central Hospital, Nancy, France
Down Syndrome, Edwards Syndrome
Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies
This study will evaluate the clinical performance of massively parallel sequencing (MPS) using the MaterniT21 PLUS LDT in the detection of fetal aneuploidy in circulating cfDNA extracted from a maternal blood sample obtained from…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
- Trial name
- NCT02226315
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Sequenom, Inc.
Myositis, Myasthaenia Gravis
Neuromuscular Complications of MEK Inhibitors: a French Case Series and a Systematic Review of the Literature
MEK inhibitors (trametinib, cobimetinib, selumetinib or binimetinib) have been used since 2016 to treat metastatic melanoma, by targeting the MAPK pathway Neuromuscular complications (neuropathy, myasthenia or myositis) have been…
- Conditions
- Myositis, Myasthaenia Gravis, Neuropathy, Guillain Barré Syndrome
- Trial name
- NCT06740656
- Testing
- No Interventions
- Where
- France
- Volunteers
- 5 people
- Sponsor
- Central Hospital, Nancy, France
Congenital Webbing of Neck
Mehri Turki Surgical Technique of the Webbed Neck
The webbed neck is one of the conspicuous deformities of Turner syndrome that presents a surgical challenge. Despite the availability of surgical techniques, surgical outcomes are not always acceptable and recurrence occurs.
- Trial name
- NCT06446791
- Testing
- Mehri Turki Surgical Technique of the Webbed Neck
- Volunteers
- 5 people
- Sponsor
- Mohamed Tahar Maamouri University Hospital
Short Stature, Idiopathic, Infant, Small for Gestational Age
Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.
The purpose of this study is to assess the ease of use, preference, and safety after 8 weeks subcutaneous administration of EutropinPen Inj. in patients pretreated with recombinant human growth hormone by reusable device.
- Conditions
- Short Stature, Idiopathic, Infant, Small for Gestational Age, Growth Hormone Deficiency, Chronic Renal Failure
- Trial name
- NCT03015909
- Testing
- Somatropin
- Where
- South Korea
- Volunteers
- 116 people
- Sponsor
- LG Life Sciences
Craniopharyngioma, Child
SEMAFORCRANIO : Multicenter, Double-blind, Parallel, Randomized Controlled Trial of the Efficacy of Semaglutide in Hypothalamic Obesity Secondary to Craniopharyngioma in Children Aged 12 to 17 Years
Craniopharyngioma (CP) is a rare embryonic brain tumor of the sellar and parasellar region. Despite its benign histologic characteristics, it is locally aggressive and may cause severe morbidity from invasion into adjacent…
- Trial name
- SEMAFORCRANIO (NCT07845994)
- Testing
- Semaglutide (Wegovy) weekly injection
- Where
- 17 sites in France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Angers
Turner Syndrome
Beta Cell Function in Women With Turner Syndrome
Diabetes is more frequent in women with Turner syndrome. The purpose of this study is to see, in what ways the glucose metabolism is different in this study population.
- Trial name
- NCT00419107
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University of Aarhus