Actively Recruiting
Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments
Led by Connecticut Children's Medical Center · Updated on 2025-05-28
600
Participants Needed
1
Research Sites
1456 weeks
Total Duration
On this page
Sponsors
C
Connecticut Children's Medical Center
Lead Sponsor
J
Johns Hopkins University
Collaborating Sponsor
AI-Summary
What this Trial Is About
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)
CONDITIONS
Official Title
Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments
Who Can Participate
Eligibility Criteria
You may qualify if you...
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
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
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Trial Site Locations
Total: 1 location
1
Connecticut Children's Medical Center
Hartford, Connecticut, United States, 06103
Actively Recruiting
Research Team
E
Emily L Germain-Lee, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
OTHER
Number of Arms
1
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