- Richard Girards
Microduplications of the GPR101 gene (located on chromosome Xq26.3 and encodes a G-protein coupled receptor) can result in an excess of growth hormone causing gigantism, that has an onset in early childhood. It is also associated with the growth of sporadic growth hormone producing adenomas in some patients with acromegaly.
Current therapies (such as surgical resection of tumors or treatment with somatostatin analogs) for acromegaly, gigantism and other disorders of pituitary hormone hypersecretion can be ineffective, thereby creating a need for alternative therapies in this space.
The inventors at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) have developed a cell line that stably over-expresses GPR101.
Agents which inhibit the expression the GPR101-encoded protein or the biological activity of the protein can be used to treat gigantism.
Alternatively, agents that increase expression of the GPR101-encoded protein or the biological activity of the protein can be used:
- To treat dwarfism and short stature and
- To increase the body mass of livestock.
The NICHD seeks licensing and/or co-development research partners to collaborate on the identification and characterization of GPR101 inhibitors (antagonists and inverse agonists) and agonists with the goal of identifying agents to treat gigantism, acromegaly or dwarfism.
- Treatment of gigantism
- Treatment of sporadic growth hormone-producing adenomas in some patients with acromegaly
- Treatment of dwarfism
- Methods of increasing body mass and/or body size in livestock (cattle, chicken, etc.)
- Current therapies (surgical resection of tumors or treatment with somatostatin analogs) can be ineffective.
- Alternate therapies for acromegaly, gigantism and other disorders of pituitary hormone hypersecretion could be medically useful.
Constantine Stratakis (NICHD), Fabio Faucz (NICHD), Giampaolo Trivellin (NICHD), Albert Beckers, Adrian Daly
- Basic (Target Identification)
Beckers A et al. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. [PMID 25712922]
Iacovazzo D et al. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. [DOI 10.1186/s40478-016-0328-1]
Trivellin G et al. Characterization of GPR101 transcripts structure and expression patterns. [PMID 27282544]
Trivellin G et al. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. [PMID 25470569]
- U.S. Patent Filed: U.S. Patent Application Number PCT/US2015/060442, Filed 12 Nov 2015
- Foreign Filed: - Patent Application
- Hormonal Systems, Endocrine, and Metabolic Diseases