Massachusetts General Hospital
The investigators plan to test the efficacy and safey of 6-months of open-label setmelanotide to treat obesity in a single patient with pseudohypoparathyroidism type 1a due to a GNAS mutation.
Pseudohypoparathyroidism type 1A (PHP1a) is a rare genetic disorder caused by impaired G-protein signaling due to heterozygous mutations in the gene GNAS. Multiple abnormalities may result including hypocalcemia, hypothyroidism, hypogonadism, and developmental delay. Obesity also commonly occurs due to impaired signaling through the melanocortin-4 receptor (MC4R). The melanocortin-4 receptor agonist setmelanotide has been proposed as a potential yet untested treatment strategy for patients with pathogenic GNAS variants. In the current study, the investigators plan to test effects of setmelano…
Inclusion Criteria: * Known patient with PHP1a (confirmed GNAS mutation) * Optimized therapy for diabetes and dyslipidemia Exclusion Criteria: \- Use of medications that may affect endpoints that are changed within 3 months prior to Baseline or that are likely to require a change in dose during the open-label treatment period
Setmelanotide will be prescribed at the standard initial dose of 2 mg SC daily. The treatment will be uptitrated at the 2-Week visit to 3 mg SC daily if tolerated. We will continue this maximal dose for a period of 6 months.
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