Retinohepatoendocrinologic syndrome
MONDO:0009985Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.
Also known as: retinohepatoendocrinologic syndrome, rhe syndrome
6 clinical trials for this condition and its sub-types.
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NIH launches major study to unravel hormone mysteries
Knowledge-focused Recruiting nowThis study at the National Institutes of Health is looking at 1,000 adults with known or suspected hormone gland (endocrine) disorders. The goal is to better understand these conditions and help train doctors. Participants may receive tests, treatments, or surgery as part of thei…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Massive study aims to unlock genetic secrets of childhood hormone disorders
Knowledge-focused Recruiting nowThis study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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Scientists launch major study to unravel hormone disorders
Knowledge-focused Recruiting nowThis study enrolls adults with known or suspected endocrine (hormone gland) disorders, such as diabetes or thyroid disease, to help researchers learn more about these conditions. Participants will undergo medical exams, blood and imaging tests, and possibly genetic testing. The m…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:31 UTC
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Can a simple questionnaire predict who will follow their treatment?
Knowledge-focused Recruiting nowThis study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…
Phase: NA • Sponsor: Technical University of Madrid • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC