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

April 19, 2023 updated by: Emily Germain-Lee, Connecticut Children's Medical Center

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

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)

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 calcium, phosphorous, and thyroid hormone. However, these therapeutic interventions do not address the problems of short stature, obesity, and subcutaneous ossifications, which for many are a source of considerable morbidity and personal distress. These patients require frequent medical care, blood tests, and medication adjustments. PHP1A is an inherited condition with an estimated prevalence in the United States of 1:15,000- 20,000, and the studies that we propose provide an opportunity to improve the quality of life in affected patients. We have found that growth hormone (GH) deficiency is common in these patients, and our data suggest that GH testing should be part of their routine standard of care. We are investigating whether GH treatment can increase final adult height. We are also investigating whether GH treatment can reduce weight and improve a variety of metabolic disturbances and overall health in both children and adults.

GH deficiency not only leads to short stature and obesity, but also to osteoporosis, hyperlipidemia, depressed cardiac and renal function, as well as an overall lack of energy. It is quite possible that treatment of GH-deficient patients with PHP1A could improve any or all of the above problems. GH treatment has been FDA approved for use in both children and adults with GH deficiency. Therefore, it may be possible to provide improvement in health and overall quality of life in these patients.

Additionally, we completed a study in which we treated children with PHP1A who are not GH deficient (i.e., GH sufficient). The rationale is that GH treatment could maximize linear growth velocity prior to the premature bone fusion that occurs in this condition and potentially improve final adult height. The supply of growth hormone has ended for this study, and we are following those participants who were in this study and received the growth hormone supply. Some of these patients remain on growth hormone as per clinical care secondary to their responses.

This study also seeks to define the specific neurocognitive and psychosocial disabilities in individuals with AHO in order to develop therapies and improve quality of life. AHO includes two subtypes: pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP).

Study Type

Interventional

Enrollment (Anticipated)

600

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Connecticut
      • Hartford, Connecticut, United States, 06103
        • Recruiting
        • Connecticut Children's Medical Center
        • Contact:
        • Principal Investigator:
          • Emily L Germain-Lee, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 months to 89 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

Inclusion Criteria for GH study:

  • Diagnosis of pseudohypoparathyroidism type 1A
  • 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 patient 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 SGA indication.

Exclusion:

  • Absence of above diagnosis

Inclusion Criteria for cognitive/behavioral studies:

  • Confirmed diagnosis of Pseudohypoparathyroidism type 1A and Pseudopseudohypoparathyroidism
  • Ages 4 - 65 yrs

Exclusion:

  • Absence of above

Inclusion Criteria for Natural History Study:

  • Confirmed diagnosis of Pseudohypoparathyroidism type 1A or Pseudopseudohypoparathyroidism
  • Ages 0.2 yrs - 89 yrs

Exclusion:

  • Absence of above

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: AHO:neurocognitive and pyschosocial
Neurocognitive and psychosocial testing
Behavioral: Neurocognitive and psychosocial testing
Neurocognitive and psychosocial testing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
PHP1A: Effect of GH on height, growth velocity, final height in children. Effect on weight, BMI, lipids, BMD, self-esteem in all ages.
Time Frame: until achieve final height (approximately 12-15 years)
Effect of growth hormone
until achieve final height (approximately 12-15 years)
Cognitive and behavioral function in Albright hereditary osteodystrophy
Time Frame: participant will be assessed on day 1; assessment may extend into day 2
Cognitive and behavioral function assessments/questionnaires
participant will be assessed on day 1; assessment may extend into day 2

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Connecticut Children's Medical Center

Collaborators

Johns Hopkins University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
UConn Health

Investigators

  • Principal Investigator: Emily L Germain-Lee, MD, Connecticut Children's Medical Ctr. and Univ. of Connecticut School of Medicine

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2003

Primary Completion (Anticipated)

October 1, 2030

Study Completion (Anticipated)

December 1, 2030

Study Registration Dates

First Submitted

September 13, 2005

First Submitted That Met QC Criteria

September 13, 2005

First Posted (Estimate)

September 21, 2005

Study Record Updates

Last Update Posted (Actual)

April 21, 2023

Last Update Submitted That Met QC Criteria

April 19, 2023

Last Verified

April 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 16-110
  • R21HD078864 (U.S. NIH Grant/Contract)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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