severe-short-stature Clinical Trials
A listing of severe-short-stature medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.
Found 28 clinical trials
Primordial Dwarfism Registry
The goal of this registry is to collect information on individuals with Microcephalic Osteodysplastic Primordial Dwarfism Type II (also called MOPDII) and other forms of microcephalic primordial dwarfism. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.
A Participant-mediated Observational Virtual Registry of Children With Achondroplasia in the United States
This is an observational study of a pediatric cohort with achondroplasia in the United States. This cohort consists of both individuals treated and untreated with VOXZOGO™. Study enrollment started in February 2023. The projected total duration of the study is approximately 5 years, with the duration of individual prospective follow-up …
Registry for Patients With Achondroplasia / Hypochondroplasia (OMPR-Ach/Hy)
This registry is a observational, single-center study designed to collect clinical data on patients with achondroplasia and hypochondroplasia.
Comparison of Levothyroxine Formulations in the Treatment of Congenital Hypothyroidism
Observational, retrospective, prospective, pharmacological, single-centre, non-profit study. The aim is to evaluate, in newborns diagnosed with Congenital Hypothyroidism, the mediumand long-term efficacy and safety of the new formulation of levothyroxine in oral solution, compared to the liquid drop formulation and the tablet formulation. The study will involve male and female …
Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism with in Situ Thyroid
Retro-prospective, exploratory, single-centre observational study conducted at the Endrocrine-Metabolic Diseases Centre of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy. The primary aim is to assess, by NGS sequencing of a panel of target genes, the frequency and type of variants with potential pathogenic significance in a patient population …
A Study to Learn About Somatrogon in Patients With Pediatric Growth Hormone Deficiency (p GHD) in India.
The purpose of this study is to learn about the safety of Somatrogon for the treatment of pediatric growth hormone deficiency (p GHD) in India. Pediatric GHD is a condition caused by too less amounts of growth hormone in the body. Children with GHD have a short height. GHD can …
Neuropsychological Assessment of Children and Adolescents With Turner Syndrome
Turner syndrome (TS) is a rare chromosomal disorder characterized by partial or complete loss of one of the X chromosomes that affects about one in every 2000 female babies born. These young patients described difficulties making friends, understanding others' emotions and intentions, and controlling their own emotions. Difficulties in these …
Natural History Study for DNA Repair Disorders
This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).
