Disorder of GNAS inactivation
MONDO:0800466Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).
12 clinical trials for this condition and its sub-types.
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Broader categories
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Old asthma drug shows promise for rare genetic disorder
Disease control OngoingThis phase 2 trial tests whether theophylline, a drug used for asthma, can help people with pseudohypoparathyroidism lose weight and improve blood sugar control. The study includes 29 obese participants aged 13 and older. Researchers will measure changes in body mass index and gl…
Phase: PHASE2 • Sponsor: Vanderbilt University Medical Center • Aim: Disease control
Last updated Jun 27, 2026 12:25 UTC
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Could a common asthma drug help treat a rare genetic disorder?
Disease control ENROLLING_BY_INVITATIONThis study tests whether theophylline, a drug used for asthma, can help children and young adults with pseudohypoparathyroidism—a rare genetic condition causing early obesity, hormone problems, and short stature. Researchers will check for weight loss, better blood sugar control,…
Phase: PHASE2 • Sponsor: Jaclyn Tamaroff • Aim: Disease control
Last updated Jun 27, 2026 12:24 UTC
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Old asthma drug could help kids with rare bone and hormone disorder
Disease control OngoingThis phase 2 trial tests theophylline, a drug used for asthma, in 34 children aged 2 to 12 with pseudohypoparathyroidism, a genetic condition causing obesity, short stature, and hormone resistance. The study aims to see if theophylline can help with weight loss, slow bone growth …
Phase: PHASE2 • Sponsor: Vanderbilt University Medical Center • Aim: Disease control
Last updated Jun 27, 2026 12:24 UTC
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Long-Term study sheds light on rare bone and hormone disorder
Knowledge-focused OngoingThis study follows 600 people with Albright hereditary osteodystrophy, a rare genetic condition affecting bones and hormones. Researchers are looking at how growth hormone treatment affects height and weight in those with a related hormone problem, and also studying thinking and …
Phase: NA • Sponsor: Connecticut Children's Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:01 UTC
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Brain scans reveal hidden links between body diseases and metabolism
Knowledge-focused OngoingThis study watches 200 people with lung, gut, or hormone diseases over time using special brain scans (PET). It aims to see how these diseases change brain activity and whether those changes can predict tumor return, spread, or survival. No new treatment is tested—just observatio…
Sponsor: The First Affiliated Hospital of Zhengzhou University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC