Clinical Trials for Turner Syndrome

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Turner Syndrome from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 50
• Recruiting: 23
• Active, not recruiting: 7
• Completed: 10
• Other: 10

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT02417740 — Natural History of Noncirrhotic Portal Hypertension

Background:

- Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs. Many people may not even know that they have a liver disease. There are no specific treatments for NCPH.

Objectives:

- To learn more about how NCPH develops over time.

Eligibility:

- People a…

NCT06178887 — 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. From the review of the literature, it was evident that the imaging techniques used involved the evaluation of only the thoracic findings, in particular the heart and the thoracic aorta, while no data are currently available on the distal abdo…

NCT03812913 — Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

Turner syndrome (TS) is a rare chromosomal disorder characterized by partial or complete loss of one of the X chromosomes that affects about one in every 2000 female babies born. These young patients described difficulties making friends, understanding others’ emotions and intentions, and controlling their own emotions. Difficulties in these domains could led to social withdrawal, to reduced so…

NCT05052606 — 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. This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. In addition to learning a lot about the current state of health for individuals with TS, INSIGHTS serves …

NCT06518746 — Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation

The “Gonadal Dysgenesis Tissue Cryopreservation for Fertility Preservation” study is open to a subset of patients with disorders of sex development (DSD) which is associated with the risk of malignancy and a high risk of infertility or sterility. For these patients, experimental gonadal tissue cryopreservation is the only fertility preservation option available. The overall objective of this st…

NCT04948658 — Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy

Background:

Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child. Researchers want to learn more about why this happens and if freezing Gonadal tissue allows for fertility preservation.

Objective:

To find out why people with certain conditions have can have prema…

NCT06570460 — Long Term Effects of Oral Versus Transdermal Estrogen Replacement Therapy in Turner Syndrome

This 14-month, phase IV, randomized controlled crossover trial aims to compare the effects of oral versus transdermal estrogen replacement therapy (ERT) in women with Turner syndrome (TS). The study’s objectives are to clarify endocrine, metabolic, cardiovascular, and thromboembolic risk factors in TS after a wash-out period without estrogen (E2) treatment; compare the effects of oral versus tr…

NCT06544473 — 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). The objective is to establish the equipotency between the two estradiol regimens by evaluating various estradiol-dependent surrogate markers. The study involves 50 women with TS, aged 18-50 years, who are randomized to rec…

NCT05740579 — The Danish TURNER Cryopreservation Study

The goal of this clinical trial is to investigate if cryopreservation of ovarian tissue in girls with Turner syndrome can improve their fertility and lead to increased number of liveborn babies of Turner syndrome mothers. Women with Turner syndrome suffer from premature ovarian insufficiency which leads to infertility and lack of estrogen.

The main questions it aims to answer are:

• Does the …

NCT06325618 — Lymphedema, Low-grade Inflammation and the Vasculature in Turner Syndrome

100 women with karyotype verified TS, previously examined at 4 study visits during a 19-year period will be asked to participate in a 5th study visit. Healthy age-matched females will be included as controls in a ratio 2:1.

The aim is to examine and quantify the cardiovascular and lymphatic system in women with TS. The investigators will study a possible causal mechanism between the known path…

NCT06780514 — 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 . The main question it aims to answer is:

Is there a difference in VO2 max comparing Turner syndrome girls with standard values? How do cardiovascular parameters change during exercise (heart rate, bloodpressure, …)

Participants will perform a cyclo-ergometry in…

NCT06202846 — 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. The clinical course can be marked by various complications, including degeneration of gonadal streaks into cancer (gonadoblastoma). The risk of gonadoblastoma is increased by the presence of Y chromosome, with a risk of 19 to…

NCT06239116 — A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment

The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment

NCT05849389 — Vosoritide for Short Stature in Turner Syndrome

Turner syndrome (TS) is characterized by a missing whole or part of the second sex chromosome in a phenotypic female, resulting in short stature due to haploinsufficiency of the short-stature homeobox-containing (SHOX) gene. Growth hormone (GH) is an approved therapy for this condition, although not associated with GH deficiency, and benefits are modest. Vosoritide, a C-type natriuretic peptide…

NCT06794190 — Characterization of Hepatopathy in Turner Syndrome: Analysis of Determinants

The present study is therefore aimed at investigating the prevalence of hepatic alterations (laboratory and imaging) in adult patients with TS and generating hypothesissto the possible etiopathogenetic factors most involved, as well as evaluating the correlation between biochemical and structural abnormalities.

Thus, the study could provide relevant etiopathogenetic and prognostic results on t…

NCT06507007 — Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome

The goal of this case-control study is to pave the way for new revolutionary treatment measures within hearing loss that could either replace or delay the need for hearing aids. The study focuses on people with Turner syndrome (TS).

The aim is to find out if there are specific DNA methylation patterns and/or RNA expression profiles linked to sensorineural hearing loss (SNHL) in people with TS….

NCT06299891 — Efficacy and Safety of Phentermine/Topiramate in Youth With Hypothalamic Obesity

Hypothalamic obesity (HO) refers to the substantial weight gain that often complicates hypothalamic brain tumors. Children with this treatment-recalcitrant form of obesity have excess rates of metabolic sequelae compared to otherwise healthy children with similar obesity, and later experience excess mortality related to cardiometabolic disease. In this pilot trial, our objective is to gather ke…

NCT06901245 — Tirzepatide in PWS, HO and GNSO

This research study is comparing the effectiveness of a weight loss medication called Tirzepatide in young adults with Prader-Willi Syndrome and/or hypothalamic obesity, as compared to young adults with obesity that is unrelated to a genetic syndrome or underlying medical cause. These groups will be given medication for 1 year to see how weight and other health factors are effected by the medic…

NCT06834594 — Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome

This is a single-site open label non-randomized study comparing effects of sequential versus continuous use of progesterone supplementation amongst Turner Syndrome (TS) patients with primary ovarian insufficiency (POI) prescribed hormone replacement therapy (HRT).

NCT06760546 — 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 congenital Hypothalamic Obesity (cHO). To determine how well setmelanotide works and how safe it is, patients with cHO will take a daily injection of either setmelanotide or …

NCT07344012 — Parental Project Amongst 93 Patients With Turner Syndrome

The aim is to describe the parental project, spontaneous pregnancies and pregnancies resulting from egg donation or adoption in women diagnosed with Turner syndrome treated at Strasbourg University Hospitals.

NCT07221851 — Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders

This basket trial will enroll prepubertal children and adolescents with clinically diagnosed and genetically confirmed (if applicable) TS, SHOX-D, SGA, or ISS between ages of ≥2 and <18 years with open growth plates. The purpose of the study is to see how well treatment with once-weekly lonapegsomatropin works compared to treatment with daily somatropin. Approximately 186 participants will be …

NCT07502586 — Turner Syndrome: Genetic Considerations

Background:

Turner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome. People with TS can have heart defects, short stature, autoimmune conditions, and malformations. Many women with TS never have periods and cannot conceive; however, some women have normal ovaries (egg cells). Researchers want to learn more about why some wom…

Active, Not Recruiting

NCT01410045 — Cryopreservation of Ovarian Cortex in Girls With Turner Syndrome

Ovarian insufficiency is common in Turner syndrome related to premature and rapid follicular apoptosis and spontaneous pregnancies are rare in this population. Ovarian cryopreservation has been used in an effort to preserve fertility in patients undergoing treatments which lead to premature and severe ovarian insufficiency. This study aims to assess the relevance of ovarian tissue cryopreservat…

NCT03440697 — Pathogenetic Basis of Aortopathy and Aortic Valve Disease

The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.

NCT03381300 — Preservation of Ovarian Cortex Tissue in Girls With Turner Syndrome

Rationale: Infertility due is a major concern for girls with Turner syndrome (TS) and their parents. Physicians are often asked about possible options to preserve their fertility. However, despite some experimental case reports, clear evidence for fertility preservation in these girls is lacking and many questions remain. Without evidence on the effectiveness of fertility preservation it cannot…

NCT05330325 — A Research Study to Compare Somapacitan Once a Week With Norditropin® Once a Day in Children Who Need Help to Grow

The study compares two medicines for treatment of children born small and who stay small, or with Turner Syndrome, Noonan Syndrome, or idiopathic short stature. The purpose of the study is to see how well treatment with somapacitan works compared to treatment with Norditropin®. Somapacitan is a new medicine, and Norditropin® is a medicine doctors can already prescribe in some countries. The stu…

NCT05723835 — A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9

The purpose of this study is to find out if somapacitan is safe and how well somapacitan works in children either born small for gestational age or with Turner syndrome, Noonan syndrome or idiopathic short stature. Somapacitan is a new growth hormone medicine for treatment of low level of growth hormone. The study will last for about 3 years. During the study, the participants will be treated w…

NCT05690386 — A Trial to Investigate Different Doses of Lonapegsomatropin Compared to Somatropin in Individuals With Turner Syndrome

A 104 week dose finding open label trial followed by an optional 78 week open label extension of lonapegsomatropin, a long-acting growth hormone product, administered once-a-week versus daily somatropin product in prepubertal individuals with Turner syndrome. Approximately 48 individuals (12 individuals per arm) will be randomized to receive one of three doses of lonapegsomatropin or a daily in…

NCT05774756 — A Trial of Setmelanotide in Acquired Hypothalamic Obesity

The goal of this trial 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 acquired Hypothalamic Obesity (HO). To determine how well setmelanotide works and how safe it is, patients with HO will take a daily injection of either setmelanotide or placebo and complete trial assessments for 52 weeks on a therape…

Not Yet Recruiting

NCT06740656 — 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 reported in patients treated with MEK inhibitors.

With the growing use of these new oncology therapies, neurologists, oncologists and other clinicians are likely to b…

NCT07041814 — A Study Comparing Different Treatment Approaches for the Initiation of Puberty in Girls With Turner Syndrome Using a TRIFECTA-DARED Approach for Rare Diseases

Turner syndrome is a condition in which a girl’s body does not make enough estrogen on its own, so doctors give estrogen to help start breast and uterine (womb) development. Hence, the goal of this clinical trial is to learn whether two different ways of giving estrogen help girls and young women with Turner syndrome go through puberty normally, and to compare how well each method works and how…

NCT07614152 — The Efficacy and Safety of Inpegsomatropin Injection in Children With Turner Syndrome (TS) and Short Stature

This is a multicenter, randomized, open-label, positive-controlled phase III confirmatory clinical study. A total of 84 children with short stature due to Turner Syndrome (TS) are planned to be enrolled. Stratified by age and karyotype, subjects will be randomized at a 1:1 ratio to either the test group or the positive control group with continuous treatment for 52 weeks. The study aims to comp…

Enrolling by Invitation

NCT03836300 — Parent and Infant Inter(X)Action Intervention (PIXI)

The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes f…

NCT07304193 — Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders

To conduct a comprehensive clinical investigation of electively aborted fetuses with sex chromosome disorders and their placentas, in parallel with analyses of epigenetic alterations and changes in gene expression in these fetuses and their placentas, with the aims to:

1. delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression i…

NCT07341412 — Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders

The aim of the project is to:

1. Investigate organ development and growth in fetuses with sex chromosome disorders;
2. Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life;
3. Delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple…

NCT06596135 — Open-Label Extension Study of Setmelanotide

This is an open-label extension study designed to evaluate the long-term safety and tolerability of continued setmelanotide treatment in male and female patients ≥2 years of age who have completed or transitioned from a previous study with setmelanotide for rare genetic, syndromic, or acquired diseases of obesity upstream of the MC4R pathway.

NCT07156578 — A Long-Term Study of Bivamelagon in Participants With Hypothalamic Obesity (HO)

This is a long-term, open-label extension study of bivamelagon in participants with Hypothalamic Obesity (HO) who have transitioned from the index study, LG-MCCL005. The study will last up to 2 years.

Completed Trials

NCT06446791 — 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. Mehri Turki performed a surgical technique based on a latéral cervical approach allowing direct visual control to manage the fibrotic band. It provides a high level of visu…

NCT01661010 — The Clinical Study of Sex Chromosome Variants

Purpose/Lay Summary: Background:

- Chromosomes are the structures inside of each cell that carry our genetic material (genes). Certain differences in the sex chromosomes are known to cause various diseases, such as infertility, Turner syndrome, or Klinefelter syndrome. However, it is not fully understood why these differences are seen and what clinical findings may be caused with different se…

NCT02860923 — Efficacy and Safety of Exenatide in the Treatment of Hypothalamic Obesity After Craniopharyngioma Therapy

This hypothalamic obesity is associated with serious metabolic and psychosocial consequences.

The purpose of the study is to compare the change of body weight after 6 months treatment with a lifestyle intervention + exenatide compare to the one after the same lifestyle intervention+ placebo in adults patients suffering from a hypothalamic obesity due to treatment of craniopharyngioma.

NCT04725240 — Open-Label Study of Setmelanotide in Hypothalamic Obesity

Open-label, single-arm study designed to evaluate the body weight response to setmelanotide administered subcutaneously (SC) daily in participants with hypothalamic obesity (HO).

NCT05319301 — Identification and Clinical Relevance of an Oxytocin Deficient State (Melatonin Study)

Oxytocin (OT) is a hypothalamic peptide that enters the peripheral circulation via the posterior pituitary gland. OT plays a key role in regulating appetite, psychopathology, prosocial behavior and sexual function. Hypopituitarism is associated with increased obesity, increased psychopathology, sexual and prosocial dysfunction despite appropriate hormone replacement. A few studies suggest the e…

NCT06722079 — A Real-world Study of Long-acting Growth Hormone Injection for Turner Syndrome

This study is divided into two parts:

Part A: A multicenter, retrospective, observational study to evaluate the effectiveness of PEG-rhGH in the treatment of Turner syndrome with domestic real-world data on rhGH as external controls. The collection and arrangement of real world data is the content of the real world study (RWS); Part B: Meta analysis (MA) was conducted based on the previous lit…

NCT06489392 — Mehri Turki Webbed Neck Classification

This study aims to identify all types of congenital neck deformities called " webbed neck “. Through a literature survey, the researcher selected 27 articles describing the surgical treatment of the webbed neck, but without considering the varieties of this deformity. For this reason, the researcher studied all the reported cases from which she developed a classification containing 4 types of w…

NCT06682078 — Disorders of Sexual Development and Gonadal Tumor Risk

Disorders of Sexual Development are rare and represent a spectrum of heterogeneous pathologies. The risk of developing a malignant gonadal germ cell tumor (MGCT) exists and varies according to the etiology.

The indication for prophylactic gonadectomy must be modulated and discussed for all patients. It is essential to assess each patient’s individual risk.

The aim of our study is to assess go…

NCT06687252 — 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 diagnosis of these pathologies. However, to date, there is no consensus on etiological research and standardized management of these patients and their families, once VDG has b…

NCT06046443 — A Study to Assess Efficacy and Safety of LB54640 in Patients With Hypothalamic Obesity

The goal of this study is to determine how well LB54640 works and how safe it is in patients with Hypothalamic Obesity (HO). The study will evaluate the effect of LB54640 on safety, weight reduction, hunger, and quality of life in patients 12 years of age and older with HO. Patients will take an oral daily dose of either LB54640 (low, middle, or high dose) or placebo through Week 14. Eligible p…

Other (Unknown)

NCT06455956 — Use of miRNAs in Growth Hormone Deficiency (GHD)

This study aims at improving knowledge about the diagnosis of growth hormone deficiency (GHD) and treatment with growth hormone (GH), with the goal of providing information on the presence of new biomarkers, such as miRNAs, for diagnostic and therapeutic purposes, with the goal of establishing a personalized GH treatment scheme, optimizing resources, reducing costs, and improving outcomes.

Other (Withdrawn)

NCT05548881 — Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study

Background:

Mosaicism is a condition in which cells within the same person have a different genetic makeup. Sometimes, a type of mosaicism called 45,X may not be discovered in a woman until she undergoes routine tests during pregnancy. Little is known about how 45,X mosaicism may affect a person s long-term health.

Objective:

This natural history study will look for health risks in people wi…