Status:

RECRUITING

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

Lead Sponsor:

Connecticut Children's Medical Center

Collaborating Sponsors:

Johns Hopkins University

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Conditions:

Pseudohypoparathyroidism Type 1A

Albright Hereditary Osteodystrophy

Eligibility:

All Genders

2-89 years

Phase:

NA

Brief 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...

Detailed Description

Pseudohypoparathyroidism type 1A (PHP1A) is a disorder that causes many endocrine and developmental problems. To date, medical treatment has focused primarily on maintenance of normal serum levels of ...

Eligibility Criteria

Inclusion

  • 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

Exclusion

    Key Trial Info

    Start Date :

    January 1 2003

    Trial Type :

    INTERVENTIONAL

    Allocation :

    ESTIMATED

    End Date :

    December 1 2030

    Estimated Enrollment :

    600 Patients enrolled

    Trial Details

    Trial ID

    NCT00209235

    Start Date

    January 1 2003

    End Date

    December 1 2030

    Last Update

    May 28 2025

    Active Locations (1)

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    Connecticut Children's Medical Center

    Hartford, Connecticut, United States, 06103