Renal hypomagnesemia 5 with ocular involvement
MONDO:0009548Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
Also known as: FHHNC with severe ocular involvement, FHHNCOI, Meier-Blumberg-Imahorn syndrome, hypercalciuria-bilateral macular coloboma syndrome, HOMG5, Meier Blumberg Imahorn syndrome, familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement, hypomagnesemia 5, renal, with ocular involvement
68 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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New eye scanner could spot hidden signs of blindness
Diagnosis Not yet recruitingThis study will test a new, non-invasive eye scanner called wide field OCTA in 200 people with various eye diseases, including age-related macular degeneration, diabetic retinopathy, and dry eye. The goal is to see if this device can provide better images of blood vessels in the …
Sponsor: IRCCS San Raffaele • Aim: Diagnosis
Last updated Jun 27, 2026 08:07 UTC
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New eye camera could spot retinal disease earlier
Knowledge-focused Not yet recruitingThis study will test a new, noninvasive camera called XyCAM CRE that measures blood flow in the back of the eye. Researchers will compare its images with standard eye tests in 350 adults with retinal disorders. The goal is to see if this camera can provide extra information to he…
Sponsor: Stuart Terry Eye Associates • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC
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ER study aims to uncover hidden kidney problems in kids
Knowledge-focused Not yet recruitingThis study will observe 50 children (ages 1 month to 18 years) who come to the emergency room with kidney-related symptoms like swelling, blood in urine, or high blood pressure. Researchers want to learn which kidney diseases are most common and how children respond to initial tr…
Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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30,000 blood samples could revolutionize rapid disease testing
Knowledge-focused Not yet recruitingThis study will collect blood samples from 30,000 adults in the UK with various health conditions, including blood clots, infections, heart disease, diabetes, and more. The samples will be used to develop and fine-tune new diagnostic tests for the cobas® lumira device, which allo…
Sponsor: LumiraDx UK Limited • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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Scientists track eye disease patterns to speed future cures
Knowledge-focused Not yet recruitingThis study looks back at medical records of 200 people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Researchers will analyze vision tests and eye scans to see how these diseases progress and how genetics affect symptoms. The goal is to find be…
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 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