Natural History Study of Albright Hereditary Osteodystrophy: Includes Substudies on Effects of Growth Hormone in Patients With Pseudohypoparathyroidism Type 1A and Cognitive & Behavioral Studies in Albright Hereditary Osteodystrophy

Status: Recruiting
Location: See location...
Intervention Type: Behavioral
Study Type: Interventional
Study Phase: Not Applicable
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)

Eligibility
Participation Requirements
Sex: All
Minimum Age: 2 months
Maximum Age: 89
Healthy Volunteers: f
View:

• 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.

• Confirmed diagnosis of Pseudohypoparathyroidism type 1A and Pseudopseudohypoparathyroidism with mutation confirmation

• Ages 4 - 65 yrs

• Confirmed diagnosis of Pseudohypoparathyroidism type 1A or Pseudopseudohypoparathyroidism with mutation confirmation

• Ages 0.2 yrs - 89 yrs

Locations
United States
Connecticut
Connecticut Children's Medical Center
RECRUITING
Hartford
Contact Information
Primary
Emily L Germain-Lee, MD
egermain@connecticutchildrens.org
860-837-6719
Time Frame
Start Date: 2003-01
Estimated Completion Date: 2030-12
Participants
Target number of participants: 600
Treatments
Experimental: AHO:neurocognitive and pyschosocial
Neurocognitive and psychosocial testing
Sponsors
Collaborators: UConn Health, Hugo W. Moser Research Institute at Kennedy Krieger, Inc., Johns Hopkins University, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Leads: Connecticut Children's Medical Center

This content was sourced from clinicaltrials.gov