View clinical trials related to Dwarfism.
Filter by: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.
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
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.
Non-adherence is a recognized problem with growth hormone treatment in children. In this study, we aim to utilize web-based information derived from easypod growth hormone injection devices and easypod connect devices in a nurse-led telephone clinic to improve adherence and therefore optimize growth. Our primary aim is to test height SDS change over a 12 month period. Our secondary aims are to test adherence, acceptance/satisfaction and qualitative assessment.
Women of short stature tend to be classified regarding fetal growth by the same criteria as women of normal and tall stature. The objective of the following study is to evaluate fetal growth patterns parallel to women's height and try to make conclusions regarding possible definitions of subjective Intra-uterine growth restriction.
Doses of intrathecal bupivacaine based on patients either height or height and weight has shown to lower the risk of maternal hypotension with similar quality of anesthesia compared to conventional doses. In clinical practice there is a tendency of reducing the dose of bupivacaine as either low fixed dose or using the doses based on either height and weight or height (0.06mg/cm) alone in parturient with short stature. However, there is lack of evidence regarding the appropriate dose required in this group of patients. Therefore, our aim is to compare the height versus height and weight based intrathecal bupivacaine dose for elective caesarean on maternal haemodynamics in short stature patients.
Background: Osteogenesis Imperfecta (OI) is a connective tissue disorder. OI affects many aspects of a person s health and growth. It can cause frequent fractures, short stature, and bowing of the long bones. There is no known cure for OI so researchers want to learn more about it. Objectives: To obtain a natural history of the course of OI. To find changes in genes that affect the disease. Eligibility: People from birth to age 12 years with certain types of OI People who previously had childhood data collected in certain other protocols Design: Participants will stay in the clinic for a few days each visit. Visits will be about every 3-4 months to age 5 then about every 6-12 months. Visits may include: Medical history Physical exam Hearing test Dental exam Blood, urine, and heart tests Breathing measured while wearing a clear plastic hood for about 30 minutes Tests of motion, strength, and motor skills X-rays of the left hand, chest, legs, and spine Bone density scan. Participants will lie on a flat table while a very small dose of x-rays is passed through the body. Computed tomography and magnetic resonance imaging scans. Participants will lie on an exam table that moves in and out a scanner. Breathing tests using stickers on the chest, a light probe on a finger or foot, and a face mask Ultrasound of the kidneys, ureters, and bladder Questionnaires A small section of skin removed from the arm or thigh For some tests, participants may take medicine to make them sleepy. Participants may give separate consent for photos to be taken.
The purpose of this study is to collect information about safety and effectiveness for long term use of Norditropin®. Participants will attend the medical institution according to usual practice and receive medical care, as agreed with the study doctor.
This is an open-label, single-arm prospective pilot study to study the effects of a single dose regimen of daily growth hormone medication (Norditropin) on pre-pubertal children with Aggrecan deficiency. The growth response will be tracked over a 12 month period. A protocol extension has been approved to continue subjects on treatment for an additional 2 years.
The purpose of this study si to define morphological and epidemiological parameters and identify new symptoms in French patients with Seckel syndrome (SCKL) or microcephalic osteodysplastic primordial dwarfism type II (MOPDII).