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

Launched by CONNECTICUT CHILDREN'S MEDICAL CENTER · Sep 13, 2005

Keywords

ClinConnect Summary

This clinical trial is studying a condition called Albright hereditary osteodystrophy (AHO), which includes problems like pseudohypoparathyroidism type 1A. Researchers are particularly interested in how this condition affects growth and cognitive (thinking and behavior) abilities. They have found that many patients with pseudohypoparathyroidism type 1A have a deficiency in growth hormone, which can lead to short stature and obesity. The study will also look at how growth hormone treatment may help those who are deficient. Additionally, researchers want to understand the common challenges faced by individuals with AHO in terms of their thinking and behavior, so they can better support their needs.

To participate in the trial, individuals must be diagnosed with pseudohypoparathyroidism type 1A or a related condition, and their diagnosis must be confirmed through genetic testing. Eligible participants range from infants to older adults, with specific criteria for those receiving growth hormone treatment. Participants can expect to undergo assessments for growth and cognitive function throughout the study. This research aims to improve understanding and management of these conditions, ultimately enhancing the quality of life for those affected.

Gender

ALL

Eligibility criteria

• 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