Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments
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
|Pseudohypoparathyroidism Type 1A Albright Hereditary Osteodystrophy||Behavioral: neurocognitive and psychosocial testing|
|Study Design:||Intervention Model: Single Group Assignment
Intervention Model Description:
Natural historyMasking: 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|
- 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) ]
- Cognitive and behavioral function in Albright hereditary osteodystrophy [ Time Frame: participant will be assessed on day 1; assessment may extend into day 2 ]
|Study Start Date:||January 2003|
|Estimated Study Completion Date:||December 2025|
|Estimated Primary Completion Date:||October 2019 (Final data collection date for primary outcome measure)|
Experimental: Albright hereditary osteodystrophy natural history
Albright hereditary osteodystrophy: Natural history
|Behavioral: neurocognitive and psychosocial testing|
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00209235
|Contact: Emily L Germain-Lee, MDfirstname.lastname@example.org|
|Contact: Lauren Dickson, B.S.||email@example.com|
|United States, Connecticut|
|Connecticut Children's Medical Center||Recruiting|
|Hartford, Connecticut, United States, 06103|
|Contact: Emily L Germain-Lee, MD 860-837-6700 firstname.lastname@example.org|
|Principal Investigator: Emily L Germain-Lee, MD|
|Principal Investigator:||Emily L Germain-Lee, MD||Connecticut Children's Medical Center and University of Connecticut School of Medicine|