View clinical trials related to Dwarfism.
Filter by:The intent and design of this Phase 3 study is to assess vosoritide as a therapeutic option for the treatment of children with hypochondroplasia (HCH).
This is a long-term, multicenter, non-interventional study of children ages 2.5 to <17 years with hypochondroplasia (HCH).
The purpose of this study is to evaluate i) the effect of multiple doses of vosoritide and ii) the effect of the therapeutic dose of vosoritide compared to human growth hormone (hGH), in children with idiopathic short stature (ISS).
Study 111-903 will generate baseline growth data in children with ISS by collecting growth measurements and other variables of interest.
The first aim of the present study is to evaluate the psychological impact of the condition of short stature (family) in a sample of Italian children, comparing them with subjects of normal stature, measuring their levels of psychological well-being, psychological distress, quality of health-related life and any behavioral issues. The secondary objective is to study the psychological impact evaluated with the tests described below (see methods section) in children with GH deficiency and the effects of replacement therapy (6 months) with GH from recombinant DNA.
The primary objective of the study is to evaluate the epigenetic age in children with GH deficiency, before and after 6 months of treatment with growth hormone replacement therapy. The secondary objective is to correlate the epigenetic age with the auxometric and biochemical parameters used in the clinical-endocrinological practice. The results of the study will be useful to set up the clinical and biochemical follow-up of the hormone replacement therapy with rhGH and to understand the biomolecular mechanisms at the base of the debated "anti" or "pro" aging action of GH, the most important anabolic hormone of the human organism.
This study will assess growth over time and the clinical course of HCH in children by collecting growth measurements and other variables of interest.
Detect the prevalence of celiac disease in children with unexplained short stature attended at Assiut University Children Hospital.
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns. The minor spliceosome comprises its own set of snRNAs, among which U4atac. Its non-coding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS), Roifman (RFMN) and Lowry-Wood syndromes (LWS). These rare developmental disorders associate ante- and post-natal growth retardation, microcephaly, skeletal dysplasia, intellectual disability, retinal dystrophy and immunodeficiency. Their physiopathological mechanisms remain unsolved: the number of U12 genes involved, their identity and function, or the cellular mechanisms impacted by the splicing defect, are still unknown. The hypothesis of the study is that U12 genes coding for primary cilia components are particularly sensitive to minor splicing defects caused by RNU4ATAC mutations. Indeed, a child showing signs of TALS but negative for RNU4ATAC was found to carry a homozygous variant in the RTTN gene, coding for the rotatin protein located at the centrosome and the base of the primary cilia and playing a role in maintaining these structures. In addition, bi-allelic RNU4ATAC mutations were identified in five patients presenting with traits suggestive of the Joubert syndrome (JBTS), a well-characterized ciliopathy. These patients also present with traits typical of TALS/RFMN/LWS. To better understand the causes of these pathologies, a cohort of patients with syndromes associated with bi-allele mutations of the RNU4ATAC or RTTN gene will be gathered, in order to conduct studies on the cells of these patients. Blood samples will be taken, as well as skin biopsies, if possible. These samples will be used to create induced pluripotent stem cell lines. Blood samples will also be collected from the parents of RNU4ATAC patients, to eliminate in transcriptomic analyses expression variations due to differences in genetic background. Biopsies of skin, muscle and brain tissue will be collected on foetuses carrying two-allele RNU4ATAC or RTTN mutations whose parents have had a miscarriage or have chosen to have a medical abortion. The biological samples collected will be used to study the transcription level of U12 genes, the splicing of their pre-messenger RNA, their main cellular functions, and the structural characteristics of tissues and cells.
Short stature is a relatively common pediatric condition, referring to individuals whose height is more than 2 (-2 SD) standard deviations below the average height of a similar age, gender, and ethnicity population in similar living conditions, or those below the third percentile (-1.88 SD). This study is an open-label, multicenter, prospective and retrospective, observational, cohort study aimed at assessing the long-term safety and efficacy of PEG-rhGH or rhGH treatment for Chinese children with short stature. The study is divided into retrospective cohorts, retrospective prospective cohorts, and prospective cohorts. It is expected to include approximately 5000 patients (including around 3000 in the retrospective cohorts and around 2000 in the retrospective prospective and prospective cohorts). The total duration is expected to be 16 years, including 2 years for study center initiation and patient recruitment and follow-up of patients in the retrospective prospective and prospective cohorts until near-adult height (NAH). The primary objective is to evaluate the long-term safety of PEG-rhGH or rhGH for the treatment of children with short stature (including GHD, ISS, SGA, TS, PWS, NS, SHOX gene deletion, and other etiologies); the secondary objective is to assess the effectiveness of PEG-rhGH or rhGH treatment for children with short stature (including GHD, ISS, SGA, TS, PWS, NS, SHOX gene deletion, and other etiologies).