Pseudohypoparathyroidism

Researchers are evaluating the effects of the drug theophylline in 100 individuals aged 5 to 21 who have Pseudohypoparathyroidism (PHP), a condition characterized by resistance to hormones that use cAMP signaling. The study explores whether theophylline, which increases cAMP levels by inhibiting phosphodiesterase, can reduce hormone resistance and influence bone maturation, brain function, and metabolism in these patients. This is an open-label intervention study focusing on the off-label use of theophylline in PHP. Participants will receive theophylline twice daily for 52 weeks. The dosage will be adjusted to maintain a peak blood level between 10 and 15 mcg/mL. This single-arm study does not include a placebo group, and all subjects will be given theophylline to assess its impact on their condition. During the study, participants will be monitored for changes in bone age over the 52-week treatment period. Assessments will likely include clinical evaluations and laboratory tests to track the drug's effects and safety. The study is sponsored by Massachusetts General Hospital and is expected to continue through April 2032, ensuring long-term observation of outcomes and safety.

Researchers are studying adults with rare and complex genetic syndromes that affect multiple body systems and often include intellectual disability. These patients typically receive specialized care from multiple specialists during childhood, but as medical advances have extended life expectancy, many are now living into adulthood. The study aims to understand the medical needs, comorbidities, medication use, and quality of life impacts for adults with these rare syndromes, addressing a gap in adult care and guidelines. This research involves a retrospective review of medical files, including medical history, laboratory results, additional tests, and records of physical and psychological complaints. There is no active treatment or intervention, as the study collects and analyzes existing data to gain insights about health issues and medication adaptations needed for these syndromes. Participants' medical records will be analyzed to evaluate the presence of physical health problems, laboratory values, physical and psychological complaints, and medication use over a one-year period. The study uses statistical software for analysis and aims to improve understanding of adult care needs for these rare genetic conditions. The study began in October 2018 and will continue through January 2030.

Researchers are conducting an observational study to better understand the natural history of imprinting disorders (IDs) through their metabolic profiles in both adults and children. The study aims to identify common metabolic profiles among various imprinted diseases, assess their impact, associated metabolic risks, and explore their use for clinical classification, prognosis, and treatment approaches for IDs. The study is sponsored by the Institut National de la Santé Et de la Recherche Médicale, France. This study follows patients diagnosed with imprinting disorders confirmed by molecular diagnosis, regardless of disease severity. Participants include both adults and children who have provided informed consent or whose guardians have consented. The study does not involve any treatment interventions but focuses on gathering detailed clinical, genetic, biological, and morphometric data over time. Participants will be followed for an average of 10 years, during which researchers will collect information on clinical features, genetic and biological characteristics, and body measurements. The study will also monitor metabolic abnormalities and risks such as obesity, diabetes, cardiovascular disease, and metabolic syndrome. Quality-of-life scores and genetic mutation transmission within families will be analyzed. This long-term observation will help clarify therapeutic approaches and improve understanding of imprinting disorders.

This research aims to create and analyze a national multicenter database of patients in Italy affected by hypoparathyroidism or pseudohypoparathyroidism, two rare endocrine diseases affecting calcium regulation. The study's purpose is to collect detailed medical, genetic, diagnostic, clinical, and treatment data from a large number of patients to better understand these conditions, their prevalence, incidence, and clinical features. This observational study does not involve interventions but focuses on gathering valuable information to improve patient care and knowledge over time. The study will involve 41 specialist clinical centers across Italy, including endocrinology and pediatric departments, collecting data from patients of any age and gender diagnosed with chronic hypoparathyroidism or pseudohypoparathyroidism. Data collection will be both retrospective and prospective, spanning 10 years from the initial recruitment visit and continuing through regular follow-up visits as part of routine clinical care. No new treatments or additional procedures beyond standard care are part of this observational study. Participants will have their health information collected anonymously, including medical history, bone health assessments, genetic testing results, biochemical measures, treatment responses, and quality of life questionnaires. Researchers will analyze these data to assess disease prevalence, clinical characteristics, bone fragility, and therapy outcomes. The study emphasizes long-term follow-up with continuous data updates during routine medical visits, aiming to enhance understanding and management of these rare diseases over a decade.

Parathyroid disorders, which affect calcium-phosphate balance in the body, are common and include conditions of excess, deficiency, or signaling defects involving parathyroid hormone (PTH). This research aims to investigate the causes of these disorders, including genetic factors, and to understand their natural history and progression, especially in syndromic cases like multiple endocrine neoplasia and hyperparathyroidism-jaw tumor syndrome. Participants who have, are suspected of having, or are at risk for parathyroid or related disorders will receive standard care testing and treatment as needed. The study collects data including biospecimens such as saliva, blood, urine, stool, cheek cell samples, and for adults, possibly skin biopsies. Medical photos and leftover tissue from surgeries may also be collected. Visits can be in person or via telehealth and continue as long as participants receive care. During the study, participants will complete questionnaires about their physical, mental, and social health. Researchers will review medical records, perform clinical testing, and analyze collected samples to identify biomarkers and investigate disease mechanisms. The main outcomes include molecular profiling of biospecimens and exploring causes of parathyroid disorders over five years. Participants remain in the study while under medical care, with ongoing monitoring of their health and disease status.

Researchers are evaluating whether using a near-infrared autofluorescence (NIRAF) probe-based imaging system called PTeye can improve the identification and preservation of parathyroid glands during thyroid surgery compared to the surgeon's naked eye alone. This randomized clinical trial aims to determine if PTeye leads to better intraoperative detection of parathyroid glands and reduces the risk of postoperative complications like hypoparathyroidism. The study includes patients undergoing their first total thyroidectomy. Participants will be randomly assigned to one of two groups: thyroid surgery with PTeye or surgery using only visual identification by the surgeon. In the PTeye group, the surgeon will use a sterile fiber optic probe connected to the device to detect parathyroid tissue during surgery, with measurements recorded. In the control group, surgeons will identify glands by sight alone. Both groups will follow standard surgical protocols, including reimplantation of inadvertently removed glands when discovered. Throughout the study, data will be collected on surgery duration, frozen section analyses, blood calcium and parathyroid hormone levels before and after surgery, use of calcium and vitamin D supplements, and any complications or hospital visits. Researchers will compare these outcomes between groups to assess the value of PTeye. The primary measure is the number of parathyroid glands identified during surgery. Participants will be followed for up to six months postoperatively to monitor outcomes and safety.

Researchers are investigating the use of vosoritide, a C-type natriuretic peptide analog, to treat short stature in pre-pubertal girls with Turner syndrome. Turner syndrome is a condition where part or all of the second sex chromosome is missing in females, causing short height due to a specific gene deficiency. This study focuses on girls who have never used growth hormone or have not responded well to it, aiming to see if vosoritide can increase their growth rate over 12 months. Participants will receive daily subcutaneous injections of vosoritide for one year, using dosing based on body weight following FDA-approved guidelines. The study includes an initial 12-month treatment phase where growth velocity and safety are monitored. If participants respond positively, they may continue with vosoritide in an extension phase until their growth stops. During the study, girls will be regularly assessed for safety and changes in height, including growth velocity and standardized height scores. Researchers will also measure other growth-related factors such as seated height ratio, arm span compared to standing height, and bone age. The study will compare growth over the treatment period to historical data from before starting vosoritide, with ongoing monitoring throughout participation.