View clinical trials related to Dwarfism.
Filter by:The objective was to study whether normal growth velocity can be maintained with adapted GH dosage in GH treated prepubertal children who have responded to GH treatment with fulfilled catch up growth (=difference to target height reached, less than - 0.6 SDS).
The effect of total intravenous anesthesia (TIVA) versus inhalational anesthesia on the quality of recovery from surgery has been reported in several different types of operations. The Quality of Recovery 40 (QoR-40) questionnaire is designed multi-dimensionally to assess the degree of recovery after anesthesia and surgery, and has been validated in previous studies. The present study aims to compare the quality of recovery with the QoR-40 questionnaire, in patients undergoing correctional tibial osteotomy under general anesthesia with either TIVA with propofol or inhalational anesthesia with desflurane.
With this study we want to investigate the pharmacokinetic (PK) effect of a single injection of rhIGF-1 in patients with PAPP-A2 mutations compared to heterozygous carriers and healthy controls. This will be followed by treatment of PAPP-A2 deficient patients with IGF-1 for a period of one-year to assess growth velocity. Additionally, we want to further describe the phenotypic characteristics of patients with PAPP-A2 deficiency.
This study evaluates the transfusion of fresh frozen plasma containing the enzyme PAPP-A2 into the a female adult. This female adult has a mutated version of PAPP-A2 that prevents the unbinding of IGF-1 from IGF binding proteins. The investigator's hypothesize that transfusion of plasma with donor PAPP-A2 will lead to the unbinding of IGF-1 from its binding proteins and that they will be able to measure free IGF-1 in the blood of this female adult.
Study design: Double blind, randomized, placebo controlled study. Participants will be randomly assigned either to the intervention group or the placebo control group. Randomization for the two study groups will be made in a ratio of 1:1. The primary objective of the study is to assess the effect of 6-12 months treatment with nutritional supplementation standardized formula, in short and lean boys adolescents on weight Standard Deviation Score (SDS) and height SDS The Secondary Objectives of the study are to assess the effect of 6-12 months treatment with nutritional supplementation standardized formula, in short and lean boys adolescents on BMI SDS, growth velocity, time to puberty, quality of life and self-esteem The study will continue for 6 months of intervention versus active placebo, with additional optional 6 months (an extension period), in which participants at both groups, the intervention and the placebo, will be offered to continue their participation in the study with the study supplement. All analyses of the effect's on primary and secondary outcome measurements will take into account the consumption rate of the study formula/placebo
Background: - Some growth disorders are caused by a change in genes. Genes are the instructions the body uses to function. Changes in genes often cause them not to work correctly. Researchers want to use a new technology called exome sequencing, to look at many genes at once. This is done by looking at DNA from blood or saliva in a lab. This method may help find the cause of disorders that researchers haven t been able to find using past methods. Objectives: - To better understand genetic causes of growth disorders. Eligibility: - Children and adults with growth disorders and their family members. Design: - Participants will give a small sample of blood and/or saliva. - Researchers will purify DNA from the sample. They will perform exome sequencing and other tests to look for changes in genes. Some participants may receive limited or no genetic tests. Researchers will let them know if exome sequencing is performed. - Participants may have a medical history, physical exam, and lab tests. They may have x-rays or ultrasound tests to study the disorder in their family. - Some participants may be recommended for a specific genetic test from a commercial lab. They may have to pay for that test. - Participants will be told about test results that relate to the growth disorder. This may happen up to years after the testing. They may have to give another blood and/or saliva sample. - Some participants may get results about other health conditions. This will only happen if the information would help the person or their family protect their health. They may have to give another blood and/or saliva sample.
The purpose of the study is to determine if there are differences in the final height or hormone profile of short pubertal boys placed on different forms of aromatase inhibitor now routinely used to increase stature: Anastrozole and Letrozole. It also should determine if there are differences in the side effect profiles of the two drugs to be used.
The purpose of the study is to evaluate the predictive value of IGF-1 generation test for growth velocity during GH treatment for 12 months.
Proper growth in children is a complex process regulated by a combination of genetic, nutritional, environmental, hormonal, and others. Growth hormone (GH) is the main hormone regulating the growth from childhood to adulthood. Despite great progress in the field, with the development of recombinant GH for the treatment of growth hormone deficiency (GHD), there is still no reliable method for testing GHD. Physical exertion is one of the significant physiologic stimuli for GH secretion, and it is reliable test for identification of GHD. It is not in use in the clinics because of its complexity. Recently GH secretion following short anaerobic exercise in young adults was tested and also demonstrated significant growth hormone secretion In contrast to adult children's exercise is characterized by an anaerobic nature. There is no data about secretion of growth hormone in response to anaerobic exercise in children. Purpose of the experiment: The purpose of this study is to evaluate the secretion of growth hormone in response to anaerobic exercise in children.
This trial is conducted in Asia. The aim of the trial is to investigate the long-term efficacy and safety of two doses of NN-220 (somatropin) in short stature due to Noonan syndrome.