Clinical trials: Monosomy X
Panhypopituitarism, Craniopharyngioma
The Effect of GLP-1 Agonist in Patients With Hypothalamic Obesity: Prospective, Pilot Study
GLP-1 analogs are used as agents in the existing treatment of obesity. However, there are lack of previous reports on the effectiveness and role of GLP-1 analogs in the development of obesity traits in patients with functionally…
- Conditions
- Panhypopituitarism, Craniopharyngioma, Hypothalamic Obesity
- Trial name
- NCT06217848
- Testing
- Saxenda
- Where
- South Korea
- Volunteers
- 50 people
- Sponsor
- Seoul National University Hospital
Turner Syndrome
Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome
This is an extension study that will gather long-term data on the effect of early growth hormone (GH) treatment on adult height and other aspects of health and development in girls with Turner syndrome.
- Trial name
- NCT00266656
- Testing
- Humatrope
- Where
- 9 sites in United States
- Volunteers
- 69 people
- Sponsor
- Eli Lilly and Company
Cystic Fibrosis, Immunologic Deficiency Syndrome
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.
- Conditions
- Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis
- Trial name
- NCT02417740
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Trisomy 13, Trisomy 18
High Risk Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample.
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Trial name
- NCT02278874
- Where
- 4 sites in United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Turner Syndrome, Primary Ovarian Insufficiency
Sexuality and Sexual Quality of Life in Adult Patients With Turner Syndrome (TS) Compared With Patients With Primary Ovarian Insufficiency Different From TS
Turner syndrome (TS) is a rare disease affecting 1/2500 female. It is defined by a complete or partial loss of an X chromosome associated with clinical signs.
- Trial name
- SEXATURN (NCT05223621)
- Where
- France
- Volunteers
- 300 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Failure to Thrive
Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome
This clinical trial will compare the mean first year height velocity of somatropin-treated prepubertal patients with SHOX deficiency with the height velocity of a control group of untreated prepubertal patients with SHOX…
- Trial name
- NCT00190658
- Testing
- Somatropin (rDNA origin) for injection
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- Eli Lilly and Company
Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY
Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome
This study plans to learn more about how the energy system works in girls with Turner syndrome. This is important to know so that the investigators understand how Turner syndrome relates to diseases such as diabetes, extra weight…
- Conditions
- Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY, Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X, Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq)
- Trial name
- NCT03181230
- Testing
- No intervention
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- University of Colorado, Denver
Sex Chromosome Disorders
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…
- Trial name
- NCT07304193
- Where
- Denmark
- Volunteers
- 120 people
- Sponsor
- University of Aarhus
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
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
Hypothalamic Obesity, Hypothalamic Tumor
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…
- Conditions
- Hypothalamic Obesity, Hypothalamic Tumor, Craniopharyngioma
- Trial name
- NCT06299891
- Testing
- Phentermine / Topiramate Extended Release Oral Capsule [Qsymia]
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Seattle Children's Hospital
Turner Syndrome, Post-menarcheal Adolescents
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.
- Conditions
- Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia
- Trial name
- NCT04948658
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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.
Primary Amenorrhoea, Hypothalamic Amenorrhoea
Pubertal Induction in Individuals With Hypogonadism
The investigators wish to explore the variability of uterine, breast and bone outcome markers as surrogates to assess the adequacy of exogenous oestrogen replacement in individuals with hypogonadism.
- Conditions
- Primary Amenorrhoea, Hypothalamic Amenorrhoea, Hypogonadotrophic Hypogonadism, Hypopituitarism
- Trial name
- NCT02871986
- Testing
- Routine transdermal oestrogen patch
- Where
- United Kingdom
- Volunteers
- 24 people
- Sponsor
- University College, London
Turner Syndrome
Turner Syndrome Prenatal Diagnosis Study
The goal of this study is to compare the features of Turner syndrome in girls who are diagnosed before birth because of fetal concerns versus those who are diagnosed when their mother has an amniocentesis for another reason.
- Trial name
- NCT01668251
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Seattle Children's Hospital
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)
Turner Syndrome, Primary Ovarian Insufficiency (Poi)
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…
- Trial name
- BOOST (NCT06834594)
- Testing
- Micronized progesterone 200 MG, Micronized Progesterone 100 MG
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Mercy Hospital Kansas City
Sex Chromosome Disorders
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…
- Trial name
- NCT07341412
- Where
- Denmark
- Volunteers
- 300 people
- Sponsor
- University of Aarhus
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, Angelman Syndrome
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…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International