Active clinical trials for "Dwarfism"

Short stature can be caused by a number of genetic etiologies, many of which directly affect the growth plate. The FGFR3/CNP pathway is central to growth of the chondrocyte. The study team hypothesizes that patients with selected genetic causes of short stature that interact with this pathway will benefit from treatment with vosoritide, a CNP analog, a selective NPR-B agonist which directly targets the growth plate. This study will enroll patients with short stature in selected genetic categories and will follow them for a 6 month observation period to obtain a baseline growth velocity, safety profile and quality of life assessment. Patients will then be treated with vosoritide for 12 months and will be assessed for safety monitoring and improvement in height outcomes.

The proposed study is a double blind, randomized, placebo controlled study. The aim of the study is to evaluate the effect of combined growth hormone (GH) treatment &nutritional formula supplementation versus GH & placebo on growth parameters in 64 children with Idiopathic Short Stature (ISS) after the second year of GH treatment. 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. Both participants and study team will be blinded to the type of treatment that each patient will receive during the study. The randomization will be done according to gender. Participants in the intervention groups will be treated with the study formula and participants in the control group will be treated with a placebo low caloric formula (powder added to water). The study will continue for 6 months of intervention versus active placebo, with additional 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 active study supplement.

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.

To explore the dose-response relationship between pharmacokinetics and pharmacodynamics of Y- Shaped Pegylated growth hormone injection (YPEG-GH) in children with short stature (idiopathic short stature (ISS), small for gestational age (SGA), Turner syndrome (TS)). To evaluate its tolerability, safety and efficacy and to provide evidence for dose selection and titration for future clinical development and clinical application in these population.

Short stature is a frequent reason for referral to a pediatric endocrinology clinic. Short stature is especially prevalent among those with failure to thrive (whose weight is significantly below the average weight of his/her peers). The growth hormone has limited efficacy for medical treatment of short stature when the cause of short stature is not growth hormone deficiency. This study will investigate the effect of 6 months of nutritional supplement (essential amino acids) compared to placebo in the linear growth of short children who have not yet reached puberty.

After the first stage (52 weeks) of Phase II clinical trial, Pegylated recombinant human growth hormone (PEG-rhGH) injection of appropriate dose in compliance with ISS clinical treatment strategy is used to treat children with ISS (Idiopathic Short Stature). The long-term efficacy and safety of the investigational product are evaluated, which can provide more scientific and reliable medication guidance information for clinical diagnosis and treatment.

The study compares 2 medicines used for the treatment of children who are born small and who stayed small: somapacitan given once a week (a new medicine) and Norditropin® given once a day (the medicine doctors can already prescribe). Participants will either get somapacitan or Norditropin® - which treatment is decided by chance. Both participants and the study doctor will know which treatment the participants get. The study will last for 4 years. Participants will take either an injection once every week or once every day. Participants will have 9 clinic visits and will be in the study for 1 year. The follow-up period is at least 30 days.

Estrogens are responsible for the disappearance of growth cartilage in the long bones at the end of the pubertal growth spurt both in boys and in girls. It is therefore hypothesized that stopping pubertal development and hence estrogen production, will prolong and increase the pubertal growth spurt, especially when growth hormone is given concommitantly. Boys in early puberty, with a bone age between 11 and 13 years and a predicted adult height below 163 cm or girls in early puberty with a bone age between 10 and 12 years and a predicted height under 151 cm will be treated with triptorelin 3.75 mg and Zomacton growth hormone for 4 years.

Turner syndrome (TS) is characterized by a missing whole or part of the second sex chromosome in a phenotypic female, resulting in short stature due to haploinsufficiency of the SHOX gene. Growth hormone (GH) is an approved therapy for this condition, although not associated with GH deficiency, and benefits are modest. Vosoritide, a C-type natriuretic peptide (CNP) analog, targets chondrocytes within the growth plate leading to increased cell proliferation and hypertrophy. We hypothesize that patients with TS and short stature will respond to vosoritide treatment leading to increased growth velocity. This study will enroll pre-pubertal girls with TS who are either naïve to GH or have had a poor response to GH therapy. All subjects will be treated with vosoritide for 12 months and will be assessed for safety monitoring and improvement in height outcomes. Annualized growth velocity (AGV) on vosoritide will be compared to AGV in the 6-18 months prior to initiation of vosoritide based on historical data available in the medical record. Subjects with a positive response to therapy will be given the option to continue in the extension phase of the study during which they will continue to receive vosoritide until growth cessation.

Mauriac syndrome (MS) is an entity of individuals combining poorly controlled diabetes mellitus type 1, short stature and glycogenic hepatopathy. Thus, the functional significance of Mauriac syndrome for glucose metabolism remains disputed, and whether genetic defects in glycogen metabolism contribute to glycogenic hepatopathy in MS remains to be clarified.Coupling the genetic analysis of targeted genes involved in glucose regulation with a dynamic exploration will eventually determine if a genetic abnormality leads to the disease and explains the nature of the phenotype.