View clinical trials related to Genetic Disorder.
Filter by:This trial is conducted in Europe. The aim of this trial is to assess whether increasing doses of somatropin (Norditropin®) can maintain the initial increase in height velocity and improve final height. This trial has two trial periods, a main period of 4 years and an extension period until final height is reached.
This trial is conducted in Europe. The aim of this trial is to study the dose-response relationship and effect of somatropin (Norditropin®) on final height in girls with Turner Syndrome.
Background: - Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems. People with MC4R mutations may have problems with attention. These problems may be related to Brain-Derived Neurotrophic Factor (BDNF), a protein that is important for brain development. Researchers want to study people with PWS and MC4R mutations to see how BDNF is involved in these conditions. Specifically, body weight and brain function will be studied, and compared with healthy volunteers. Objectives: - To study how BDNF affects body weight and brain function in people with PWS and MC4R mutations. Eligibility: - Individuals of any age who have Prader-Willi syndrome or MC4R genetic mutations. - Healthy volunteers of any age to act as control participants. Design: - Participants will be screened with a medical history and physical exam. Height, weight, and waist/hip circumferences will be measured. Blood samples will be taken for genetic and other tests. - Participants will fill out questionnaires about eating habits, pain perception, and sleep behavior. - Participants will keep a 3-day food diary to record all food and drinks eaten. - Tests and questionnaires will be given to study thinking, speech, movement, behavior, and mood. Some tests will be done on a computer; other tests will be on paper. Tests may also involve performing tasks with blocks and other objects. - Participants may have other tests as directed. These will include hot and cold sensitivity tests, imaging studies like x-rays, and measurements of body fat and water content. - Treatment will not be provided as part of this study.
This study is conducted in Japan. The aim of this study is to assess the incidence rate of adverse drug reactions (ADRs) when using somatropin (Norditropin®) for treatment of for achondroplasia without epiphyseal line closure under normal clinical practice conditions.
Background: - During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty. Others start puberty abnormally early. Other people may have a normal puberty but develop reproductive disorders later in life. Researchers want to study people with reproductive disorders to learn more about how these disorders may be inherited. Objectives: - To learn how reproductive system disorders may be inherited. Eligibility: - People with one of the following problems: - Abnormally early puberty - Abnormally late or no puberty - Normal puberty with hormonal problems that develop later in life - People who have not yet had puberty but have symptoms that indicate low hormone levels. Design: - Participants will provide a blood sample for testing. They will complete a questionnaire about their symptoms. They will also have a scratch-and-sniff test to study any problems with their ability to smell. - Participant medical records will be reviewed. Participants will also provide a family medical history. - Family members of those in the study may be invited to participate. - Treatment will not be provided as part of this study.
This study is conducted in Japan. The aim of the study is to evaluate the efficacy of somatropin (Norditropin®) on adult height (cm) in patients with achondroplasia / hypochondroplasia enrolled in the GH-1941 study (NCT01516229).
This trial is conducted in United States of America (USA). The aim of this trial is to examine the bioequivalence of Norditropin® versus Genotropin® in healthy adult volunteers.
This study is conducted in Europe. The purpose of this study is to assess the impact on daily life for children new to using a growth hormone injection device.
This study is conducted in Europe. The aim of this study is to compare the easiness of use of Norditropin NordiFlex® device to the device previously used by patients or parents.
This study will describe the pharmacokinetic disposition of biologically active rabbit anti-thymocyte globulin (rATG) after a consistent dose of 7.5 mg/kg/course given as part of the conditioning regimen in children undergoing hematopoeitic stem cell transplantation (HSCT).