Hyperinsulinism due to INSR deficiency
MONDO:0012381Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.
Also known as: hyperinsulinemic hypoglycemia due to INSR deficiency, hyperinsulinemic hypoglycemia due to insulin receptor deficiency, hyperinsulinemic hypoglycemia, familial, type 5, HHF5, hyperinsulinemic hypoglycemia, familial, 5
40 clinical trials for this condition and its sub-types.
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New hope for kids: drug may prevent transplant complications
Disease control Not yet recruitingThis study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…
Phase: PHASE2 • Sponsor: Sung Won Choi • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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AI could help spot rare metabolic diseases in newborns
Diagnosis Not yet recruitingThis trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…
Phase: NA • Sponsor: The Children's Hospital of Zhejiang University School of Medicine • Aim: Diagnosis
Last updated Jun 27, 2026 09:00 UTC
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Tiny plastics found in human pancreas? new study investigates
Knowledge-focused Not yet recruitingThis study aims to detect and measure microplastics in pancreas tissue from 10 patients having pancreatic surgery. Researchers will also check fat tissue and blood samples. The goal is to see if microplastics are present and whether they might be linked to metabolic problems or c…
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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AI learns to read scans and reports for smarter disease diagnosis
Knowledge-focused Not yet recruitingThis study aims to create an artificial intelligence (AI) system that can combine medical images (like CT and MRI scans) with patient records and lab results to help doctors more accurately diagnose diseases of the liver, gallbladder, and pancreas. The researchers will use data f…
Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:09 UTC
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Massive diabetes registry aims to unlock secrets of metabolic disease
Knowledge-focused Not yet recruitingThis 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC
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New study to track hidden salt and mineral imbalances in sick kids
Knowledge-focused Not yet recruitingThis study will look at 150 infants and children aged 1 month to 4 years who are admitted to a hospital gastroenterology unit with a gastrointestinal disease. The goal is to find out how common electrolyte disturbances (like low sodium or potassium) are in these children. By meas…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 26, 2026 12:41 UTC