RecruitingNot Applicable

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

United States600 participantsStarted 2003-01

Plain-language summary

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 evaluating the effect of growth hormone treatment in those patients with pseudohypoparathyroidism type 1A who are found to be growth hormone deficient (under R01 FD002568, IND 67148, which ended); those who are 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 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)

Who can participate

Age range2 Months – 89 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria for GH study: * Diagnosis of pseudohypoparathyroidism type 1A with mutation confirmation * For the portion of the study in which growth hormone is used for participants who are not growth hormone deficient (ie., growth hormone sufficient), the participant must be over 3 years of age (ie., after 3rd birthday) AND also be pre-pubertal at the time of GH initiation. * As of now, the growth hormone sufficient participants must meet the FDA-approved criteria for idiopathic short stature or the SGA indication. Therefore, for all participants enrolling in the growth hormone portion of this study as of now, the growth hormone is used according to FDA-approved indications, and growth hormone use is according to standard of care clinical guidelines. Exclusion: * Absence of above diagnosis and failure to meet above criteria Inclusion Criteria for cognitive/behavioral studies: * Confirmed diagnosis of Pseudohypoparathyroidism type 1A and Pseudopseudohypoparathyroidism with mutation confirmation * Ages 4 - 65 yrs Exclusion: * Absence of above Inclusion Criteria for Natural History Study: * Confirmed diagnosis of Pseudohypoparathyroidism type 1A or Pseudopseudohypoparathyroidism with mutation confirmation * Ages 0.2 yrs - 89 yrs Exclusion: * Absence of above

What they're measuring

PHP1A: Effect of GH on height, growth velocity, final height in children. Effect on weight, BMI, lipids, BMD, self-esteem in all ages.

Timeframe: until achieve final height (approximately 12-15 years)

Cognitive and behavioral function in Albright hereditary osteodystrophy

Timeframe: participant will be assessed on day 1; assessment may extend into day 2

Trial details

NCT IDNCT00209235

SponsorConnecticut Children's Medical Center

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2030-10

Contact for this trial

Emily L Germain-Lee, MD

860-837-6719 egermain@connecticutchildrens.org

View on ClinicalTrials.gov More Pseudohypoparathyroidism Type 1A trials