Active clinical trials for "Turner Syndrome"

The protein polymorphism of the growth hormone receptor characterized by the genomic deletion of exon 3 has been linked to the magnitude of the first-year-growth response to growth hormone (GH) in girls with Turner syndrome. Objective: to study the long-term effect of GH therapy in Turner syndrome in correlation to this GHR polymorphism in a mainly retrospective design (chart-review).

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 women pregnant with a multiple gestation who were at increased risk for fetal aneuploidy.

The study is performed to collect long-term data on the treatment adherence and patient's acceptability when Zomacton®10 mg is administered with the Zomajet® Vision X device in patients with a growth hormone deficiency or Turner's 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. The hypothesis is that women with Turner Syndrome have an impaired insulin production (beta cell function).

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 gain, heart disease and liver disease, and how this impacts day to day life.

This is an international, multicenter study involving children treated with Saizen®, a growth hormone, who will be trained to use easypod, a new electronic injector and will complete a questionnaire after 12 week of use. Both children naïve to growth hormone and dissatisfied with their current injection device will be recruited.

The purpose of this strictly observational, prospective, longitudinal study is to evaluate with sufficient precision the rate of overall treatment compliance from one year to 3 years of follow-up of the patients. Somatotropin is indicated in the long-term treatment of children with growth retardation related to a deficiency in secretion of growth hormone and in the long-term treatment of growth retardation related to Turner's syndrome confirmed by chromosomal analysis. These are the two indications of Zomacton® 4 mg and 10 mg injection solution. The use of the Zomajet® needle-free device (Zomajet® 2 Vision, reserved for the administration of Zomacton® 4 mg or of the Zomajet® Vision X needle-free device, reserved for the administration of Zomacton® 10 mg), allows the product to be administered by percutaneous transjection (needle-free) and can be used by the child directly or by the family after an initial training. In April 2004, the CEPP (Commission for the Evaluation of Products and Services) requested a follow-up of the cohort of patients using the Zomajet® 2 Vision system measuring the compliance and duration of use of the device. The number of patients initiated on Zomacton treatment using the Zomajet® needle-free device is estimated to 30. Over a period of inclusion of 3 years, we therefore estimate that 90 patients will be treated. In the cohort studied the patients will be followed-up for 1 year at least and for 3 years at the maximum. The rate of treatment compliance will be evaluated according to the ratio of the actual duration of administration over the total duration recommended by the physician during the observation period.

The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). GenTAC established a registry of 3706 patients with genetic conditions that may be related to thoracic aortic aneurysms and collected medical data and biologic samples. The study ended in September 2016. Data and samples are available from NHLBI and requests should be made to BioLINCC. See the NHLBI website for more information: https://www.nhlbi.nih.gov/research/resources/gentac/.

Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.

This study is a multicenter, open-label, postmarketing surveillance study. The substudy will collect information on BMD in adolescents and young adults with GHD or Turner syndrome who are completing GH treatment for statural indications.