Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments

We, the researchers, are following the natural history of Albright hereditary osteodystrophy. We have found that growth hormone deficiency is very common in patients with pseudohypoparathyroidism type 1A, which falls under the broader condition termed Albright hereditary osteodystrophy. Patients with pseudohypoparathyroidism type 1A typically are short and obese. Some of these patients are not short during childhood, but due to a combination of factors, they end up short as adults. We are currently evaluating our data on the effect of growth hormone treatment in those patients with pseudohypoparathyroidism type 1A who were found to be growth hormone deficient (under R01 FD002568, IND 67148, which ended); those who were growth hormone sufficient and were found to have a positive clinical response to growth hormone in a prior clinical trial (under R01 FD00FD003409, IND 67148, which ended); or those who meet the criteria of idiopathic short stature or SGA. We are also evaluating our data on neurocognitive and psychosocial functioning in participants with AHO in order to determine the specific impairments that are most common in the condition and to determine the best approach toward management. Funding source -- Growth hormone study: FDA OOPD \[R01 FD003409 (which has ended) and R01 FD002568 (which has ended)\] Cognitive/behavior: NICHD R21 HD078864 (which has ended)

NCT Number	NCT00209235
Lead Sponsor	Connecticut Children's Medical Center Collaborators: Johns Hopkins University, Hugo W. Moser Research Institute at Kennedy Krieger, Inc., UConn Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions	Pseudohypoparathyroidism Type 1A, Albright Hereditary Osteodystrophy, Pseudopseudohypoparathyroidism
Enrollment	600 participants
Start Date	2003-01
Primary Completion	2030-10 (estimated)
Study Completion	2030-12 (estimated)
Updated on ClinicalTrials.gov	2026-06-02