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 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)
Who can participate
Age range
2 Months – 89 Years
Sex
ALL
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 and already enrolled previously.
* For the portion of the study in which growth hormone was/is used for participants who are not growth hormone deficient (ie., growth hormone sufficient), the participant had to be over 3 years of age (ie., after 3rd birthday) AND also had to be pre-pubertal at the time of GH initiation; they must have been previously enrolled.
* The growth hormone sufficient participants met the FDA-approved criteria for idiopathic short stature or the SGA indication and were previously enrolled.
Therefore, for all participants enrolled in the growth hormone portion of this study as of now, the growth hormone was/is used according to FDA-approved indications, and growth hormone use was/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 and already enrolled previously.
* 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 and also enrolled previously.
* Ages 0.2 yrs - 89 yrs
Exclusion:
* Absence of above
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
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)
2
Cognitive and behavioral function in Albright hereditary osteodystrophy
Timeframe: participant will be assessed on day 1; assessment may extend into day 2