Active clinical trials for "Dwarfism"

The purpose of the protocol is to describe the distribution of IGF-1 deficiency in the studied population of Idiopathic Short Children without Growth Hormone Deficiency or any other identified cause of short stature and not treated with recombinant Growth Hormone or IGF-1

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).

The evaluation of a standardized diagnostic test to predict the growth response in a 1 year trial with Growth Hormone (GH) treatment (carried out in the context of regular patient care) in non GH deficient short children with low serum insulin-like growth factor-1 (IGF-1).

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.

Many patients consult in pediatric endocrinology because of their small size. In the majority of cases, this growth delays can be explained by a hormonal, gastroenterological cause, or a chronic disease. Sometimes the reason for stunted growth can be constitutional bone disease, a genetic cause of short stature that is still underdiagnosed. The investigators wish to describe and take stock of the various additional analyzes carried out and the various diagnoses made in patients who consulted in endocrino-pediatrics at the Montpellier University Hospital due to their short stature, in 2017 and 2018, in order to better screen patients with constitutional bone disease

Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients

To examine the clinical genetic and biochemical characteristics of children with growth hormone deficiency.

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.

This project is designed to answer the question: Is there an acute IGFBP-3 response in normal children? Our specific hypothesis states that under the influence of growth hormone secretagogues, intact IGFBP-3 molecule will undergo proteolysis and liberate IGFBP-3 fragments, along with other components of the ternary complex. This proteolysis will result in measurable rise in IGFBP-3, which will indicate the subject's growth hormone status. Short children with growth hormone deficiency will not show an IGFBP-3 response.

Since the gene responsible for achondroplasia was identified in 1994, it has become possible to test for achondroplasia prenatally. Moreover, prenatal genetic testing for achondroplasia is relatively simple and is highly likely to be informative for any couple seeking testing. Four diagnostic laboratories in the U.S. are currently performing prenatal genetic testing for achondroplasia. Before prenatal genetic testing for achondroplasia becomes more widely available, however, it is essential that we learn more about the lives of affected individuals and their families, the implications of offering testing for achondroplasia, and the education and the counseling needs of this community. Personal interviews and stories have been published and discussed at national meetings (Ablon 1984). We conducted a pilot telephone interview survey of 15 individuals with achondroplasia. What is needed now is a large scale quantitative study of the community of little people and their families. To meet this need, we have developed a survey tool to analyze family relationships, quality of life, tendencies toward optimism or pessimism, information-avoiding or information-seeking behaviors, social support, involvement in Little People of America Inc. (LPA), self-esteem, sociodemographics and views on achondroplasia, religiousness, reproductive and family plans, genetic testing, and abortion. The self-administered survey will be completed nationally by a sample of persons with achondroplasia and their family members.