Short Stature

Researchers are studying the development of neural flexibility, measured by MRI, as an indicator of cognitive flexibility in Chinese toddlers aged 32 to 42 months. The study also evaluates executive functions such as inhibition, shifting attention, emotional control, working memory, and planning using the Global Executive Composite score from a standardized rating scale. This research aims to better understand brain development and cognitive abilities during early childhood. Participants are divided into two groups based on their daily milk consumption: one group receives S-26 GOLD or ULTIMA GUM formula, while the other consumes cow's milk. Parents continue feeding their children these milk products throughout the study, and information about milk consumption is collected starting up to two months before and during the study period. The brain is examined using MRI, a safe and non-invasive imaging technology. During the study, toddlers undergo MRI scans and assessments of brain structure and function at the start and again at 42 months of age. Researchers also evaluate cognitive flexibility, behavior, curiosity, sleep quality, home environment, feeding practices, and fecal microbiota composition over time. Parents provide information through interviews, and the child's development and school readiness are monitored. The study runs from baseline through 42 months of age, with additional home environment data collected at 8 months after baseline.

This research aims to observe and track growth patterns and the clinical progression of Hypochondroplasia (HCH) in children. It focuses on collecting various growth measurements and other relevant data over time to better understand this condition. The study is sponsored by BioMarin Pharmaceutical and involves children diagnosed with Hypochondroplasia, up to 15 years old. Participants include children confirmed to have Hypochondroplasia through genetic testing. The study is observational, meaning there are no experimental treatments involved. Children will be monitored regularly to record changes in growth and body proportions, with data collection occurring every six months over the course of the study, which may last up to 15 years. Throughout the study, children will undergo assessments every six months to measure growth velocity, height, body mass index (BMI), and body segment ratios. Quality of life and severity impressions from both patients and caregivers will be evaluated annually. Researchers will also track medical events, use of growth hormone treatments, and any limb lengthening surgeries. This long-term follow-up allows for comprehensive monitoring of growth and health outcomes in children with Hypochondroplasia.

This research aims to evaluate the effects of different doses of vosoritide and compare the therapeutic dose of vosoritide to human growth hormone (hGH) in children diagnosed with idiopathic short stature (ISS). The study is a Phase 2, randomized, controlled trial that seeks to understand how these treatments influence growth in affected children. Participants will first undergo a minimum 6-month observation period to assess their baseline growth. Then, those assigned to the vosoritide and placebo groups will receive randomized treatment for at least 6 months, with placebo limited to a maximum of 6 months. After this, open-label vosoritide treatment will continue until participants reach near-final adult height or at least 16 years for females and 18 years for males, whichever is later. Participants randomized to the hGH group will receive open-label hGH treatment for a minimum of 4 years. Study treatments involve daily injections. Throughout the study, participants will attend regular visits for clinical and imaging assessments, including evaluations of hips and lower extremities. Researchers will monitor safety concerns such as hypotension, fractures, and slipped capital femoral epiphysis, with oversight from an independent Data Monitoring Committee. The main outcomes measured include changes in annualized growth velocity at 6 months and height changes over 4 years. Follow-up assessments will continue as needed, including safety monitoring, until study completion, which could last up to 15 years.

Researchers are evaluating the long-term safety of lonapegsomatropin in children with growth hormone deficiency who are already being treated with this medication. This study is observational and aims to gather real-world safety data over time after the drug has been authorized for use. The focus is on monitoring potential risks such as the development of tumors and type 2 diabetes over a period of five years. Participants receive lonapegsomatropin, administered once weekly by subcutaneous injection as part of their usual care. The study does not involve additional interventions but observes patients who are already treated with this therapy. The observational period extends for at least five years to collect safety data and compare it with historical information from previous studies. During the study, researchers will monitor for the occurrence of benign and malignant tumors, type 2 diabetes, and other adverse events affecting the kidneys, liver, immune system, and nervous system. They will also track medication errors and measure the response of Insulin-like Growth Factor-1 (IGF-1) to treatment. Participants are followed up regularly to collect this information, with the study lasting until March 2033.

Researchers are studying the effects of growth hormone treatment on cognitive development and growth in infants born small for gestational age (SGA) who have not caught up in height or head circumference by the age of 6 months to 2 years. This study aims to evaluate whether early treatment with PEG-rhGH can improve IQ, behavior, and self-cognition in these children, as well as promote catch-up growth, especially during the critical developmental period before age two. Participants are assigned either to a treatment group receiving PEG-rhGH injections at an initial dose of 0.2 mg/kg once weekly by subcutaneous injection at bedtime for 104 weeks, with dosage adjustments based on IGF-1 levels, or to a control group that receives no treatment but undergoes the same follow-up assessments over the 104-week period. This non-randomized study compares growth and cognitive development outcomes between these two groups. Throughout the study, children will be monitored regularly for growth parameters including head circumference and height, as well as cognitive, motor, social, and behavioral development using standardized scales like the Griffiths mental development scale and the Achenbach children’s behavior scale. The study also evaluates brain structure and function through imaging and metabolic assessments, and safety is closely tracked over the two years of participation.

Researchers are evaluating the safety and effects of daily vosoritide treatment compared to placebo in infants and young children with hypochondroplasia (HCH), aged from birth up to less than 36 months. This Phase 2, randomized, double-blind, placebo-controlled, multicenter study aims to better understand vosoritide's impact on growth and health over one year in this specific young population with genetically confirmed HCH. Participants will be randomly assigned to receive either vosoritide or a placebo through daily subcutaneous injections for 52 weeks. The vosoritide dose will be adjusted based on weight bands approved for a related condition. After treatment, there will be a 2-week safety follow-up to monitor any adverse effects or changes. During the study, participants will have regular evaluations including clinical lab tests, heart rate, respiratory rate, blood pressure, and body temperature measures at several time points. Researchers will assess growth changes such as height, body segment ratios, and bone density using scans, along with monitoring adverse events and vosoritide blood levels. The total participation duration is about 54 weeks including treatment and safety follow-up.

Researchers are observing children with Idiopathic Short Stature (ISS) to collect baseline growth data and other important health information. This observational study aims to better understand growth patterns in children diagnosed with ISS, focusing on how their height and body measurements change over time. The study is sponsored by BioMarin Pharmaceutical and involves children aged 2 to 16 years. The study does not involve any specific treatments but monitors participants regularly to track growth and related health variables. Data such as height, body mass index (BMI), and growth velocity will be collected every six months. The observation period can last up to 15 years, allowing researchers to gather long-term information about growth changes and possible medical events. Participants will have their height, BMI, and growth velocity measured every six months throughout the study. Researchers will also collect information on medical events and health outcomes related to short stature. The study includes regular evaluations to monitor safety and growth progression, with total participation lasting up to 15 years. This long follow-up helps to understand how children with ISS grow over time.

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 be present at birth or develop later. The condition occurs if the pituitary gland makes too little growth hormone. This is a small gland at the bottom of the brain that releases hormones that affect growth and other body functions. This study is seeking for participants who are: * confirmed with p GHD. * given Somatrogon to be taken as an injection. The safety of Somatrogon injection will be checked based on side effects. These side effects can happen within 3 years after taking Somatrogon. A side effect is something (expected or unexpected) that you feel was caused by a medicine or treatment you take. The study doctor will collect side effect information and put the information on patient's case form. Follow-up of the patient's will be performed via clinic re-visit or over a call. It is not a rule for the participants to visit the clinic in this study. This study will help to see if Somatrogon is safe.

This research aims to gather long-term evidence on the safety and effectiveness of SKYTROFA (lonapegsomatropin) in patients with growth hormone deficiency who are receiving routine clinical care. The study focuses on understanding how patients respond to this treatment over time without altering their usual medical management. It is a non-interventional observational study conducted across multiple centers in the USA. Patients will continue their regular treatment with SKYTROFA as managed by their healthcare providers, with no additional visits, examinations, or tests required beyond standard clinical care. The study will collect data from clinical outcome assessments (COAs) to evaluate treatment results and safety over a period of five years. No experimental interventions or placebos are involved. Participants will be monitored through their routine clinical visits, with researchers reviewing their health status and treatment effectiveness using standard assessments. The primary outcomes include measuring safety and treatment effectiveness over five years, along with evaluating clinical outcomes through COAs. This approach allows for natural observation of patient experiences without extra procedures or disruptions to their care.

Researchers at the University of Texas Health Science Center at San Antonio are studying individuals with chromosome 18 abnormalities to better understand the genetic causes and effects of these conditions. The study aims to identify how growth hormone deficiency and other genetic factors impact brain structure and cognitive function, as well as physical and behavioral traits. The goal is to provide comprehensive medical and educational resources, perform clinical and basic research, and develop treatments to improve the lives of affected individuals. Participants undergo various evaluations including genetic testing of DNA from subjects and their parents to determine genotype. Clinical assessments include testing growth hormone and other hormone levels, psychiatric and neuropsychological evaluations, audiology and ENT exams, brain MRI scans, genetic dysmorphology, neurology, dental, speech pathology, gastrointestinal, orthopedic, and ophthalmologic examinations. These assessments are longitudinal, with participants of a wide age range, and not all tests apply to every participant at every visit. Participants will be involved in thorough clinical evaluations and multiple specialized exams over time to gather detailed health data. These include hormone tests, brain imaging, behavioral and cognitive assessments, and physical exams. Researchers will monitor growth hormone status and other health markers to understand the condition's impact. The study is ongoing and designed to provide long-term data to guide future treatments and support. Total participation time varies depending on individual assessments and follow-up needs.