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 cows 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 childs 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 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 vosoritides 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 conducting an observational study to collect baseline growth data in children diagnosed with Idiopathic Short Stature ISS. The study aims to better understand growth patterns by measuring various growth-related factors over time in this pediatric population aged between 2 and 16 years, with a focus on children experiencing significant short stature. This long-term study is sponsored by BioMarin Pharmaceutical to help characterize how children with ISS grow compared to typical growth standards. Participants will be observed without receiving any study treatments. Growth measurements such as annualized growth velocity, height Z-score, standing height, body mass index BMI, and BMI Z-score will be collected every six months. The study will also record medical events and explore relationships between genetic variants and growth velocity. This observational approach allows tracking changes over time without intervention. Families will be involved in regular assessments every six months for up to 15 years. These evaluations include physical growth measurements and monitoring of medical events related to short stature. Data from historic growth hormone hGH stimulation tests and treatment status will also be considered. The studys primary outcomes focus on changes in growth metrics, while secondary outcomes assess medical event rates and genetic associations. Participation requires ongoing cooperation for scheduled measurements and consent from parents or guardians.

This research aims to learn about the safety of Somatrogon, a long-acting growth hormone, for treating pediatric growth hormone deficiency p GHD in children aged 3 to 17 years in India. Pediatric GHD is a condition where the body produces too little growth hormone, leading to shorter height in affected children. The study focuses on participants confirmed with p GHD and prescribed Somatrogon injections. Participants will receive Somatrogon as part of their routine clinical care, and the study will observe their health over a period of up to three years. The safety will be monitored by tracking any side effects, expected or unexpected, that occur after taking Somatrogon. Follow-up will be conducted through clinic visits or phone calls, but regular clinic visits are not mandatory. During the study, researchers will collect information on adverse events and treatment adherence, including missed injections, over the three-year period. The goal is to understand the safety profile of Somatrogon in this patient group. Participants involvement includes providing informed consent, and assessments will be conducted as part of their usual care without additional interventions specifically for the study.

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 conditions 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.

Researchers are studying growth disorders, obesity, and child development by collecting and analyzing growth data from children up to 18 years old. The CrescNet network, established in Leipzig, includes primary care physicians, pediatricians, and endocrinological centers aiming to improve early detection of growth issues through population-based data. This observational study also explores trends in child growth and weight development over time. Pediatricians participating in CrescNet provide anonymous data on patients height, weight, and head circumference to a registry. The growth data undergo automated filtering and review by pediatric endocrinologists. Participating doctors receive quarterly reports with recommendations for further evaluation when abnormal growth or weight patterns are detected. No personal patient information is accessible to the study team. Participants contribute data during routine medical visits, including well-child checks, acute visits, or other appointments. The study collects anonymized information for scientific analysis, focusing on the prevalence of growth and weight disorders. The main outcome measures include rates of growth disorders and obesity in children up to 18 years. Since this is an observational study, there are no treatments or interventions, and participation involves only data collection and monitoring over time.