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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00209235
Recruitment Status : Recruiting
First Posted : September 21, 2005
Last Update Posted : August 2, 2021
Sponsor:
Collaborators:
Johns Hopkins University
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
UConn Health
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Emily Germain-Lee, Connecticut Children's Medical Center

Study Description
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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 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 or 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 FD003409, IND 67148 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


Condition or disease Intervention/treatment Phase
Pseudohypoparathyroidism Type 1A Albright Hereditary Osteodystrophy Behavioral: Neurocognitive and psychosocial testing Not Applicable

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.

Study Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 600 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Intervention Model Description: Natural history
Masking: None (Open Label)
Primary Purpose: Other
Official Title: 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
Study Start Date : January 2003
Estimated Primary Completion Date : October 2026
Estimated Study Completion Date : December 2027

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Hormones

Arms and Interventions
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Arm Intervention/treatment
Experimental: AHO:neurocognitive and pyschosocial
Neurocognitive and psychosocial testing
 Behavioral: Neurocognitive and psychosocial testing
Neurocognitive and psychosocial testing


Outcome Measures
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Primary Outcome Measures :
  1. PHP1a: Effect of GH on height, growth velocity, final height in children. Effect on weight, BMI, lipids, self-esteem in all ages. [ Time Frame: until achieve final height (approximately 12-15 years) ]
    Effect of growth hormone

  2. 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


Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   2 Months to 89 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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 criteria of idiopathic short stature or SGA indication.

Exclusion Criteria:

  • Absence of above diagnosis

Inclusion for cognitive/behavioral studies:

  • Confirmed diagnosis of Pseudohypoparathyroidism type 1a and Pseudopseudohypoparathyroidism
  • Ages 6 - 65 yrs

Exclusion:

  • Absence of above
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00209235


Contacts
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Contact: Emily L Germain-Lee, MD 860-837-6700 egermain@connecticutchildrens.org
Contact: Alexzandrea Buscarello, B.S. 860-837-6763 abuscarello@connecticutchildrens.org

Locations
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United States, Connecticut
Connecticut Children's Medical Center Recruiting
Hartford, Connecticut, United States, 06103
Contact: Emily L Germain-Lee, MD    860-837-6700    egermain@connecticutchildrens.org   
Principal Investigator: Emily L Germain-Lee, MD         
Sponsors and Collaborators
Connecticut Children's Medical Center
Johns Hopkins University
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
UConn Health
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
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Principal Investigator: Emily L Germain-Lee, MD Connecticut Children's Medical Ctr. and Univ. of Connecticut School of Medicine
More Information
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Top of Page Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information
Additional Information:

Publications of Results:
Long DN, Levine MA, Germain-Lee EL. Bone mineral density in patients with pseudohypoparathyroidism type 1a. EndoTrends 12(4):4,2006.

Other Publications:

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Responsible Party: Emily Germain-Lee, Professor and Division Chief, Pediatric Endocrinology & Diabetes, Connecticut Children's Medical Center
ClinicalTrials.gov Identifier: NCT00209235    
Other Study ID Numbers: 16-110
R21HD078864 ( U.S. NIH Grant/Contract )
First Posted: September 21, 2005    Key Record Dates
Last Update Posted: August 2, 2021
Last Verified: July 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Emily Germain-Lee, Connecticut Children's Medical Center:
Pseudohypoparathyroidism Type 1A (PHP 1A)
Albright Hereditary Osteodystrophy
Growth Hormone Deficiency
Additional relevant MeSH terms:
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Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
 Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Calcium Metabolism Disorders