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Trial record 1 of 7 for:    "Albrights hereditary osteodystrophy"
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Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments

This study is currently recruiting participants.
Verified August 2017 by Emily Germain-Lee, UConn Health
Sponsor:
ClinicalTrials.gov Identifier:
NCT00209235
First Posted: September 21, 2005
Last Update Posted: August 16, 2017
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.
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
Information provided by (Responsible Party):
Emily Germain-Lee, UConn Health
  Purpose

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 Intervention
Pseudohypoparathyroidism Type 1A Albright Hereditary Osteodystrophy Behavioral: neurocognitive and psychosocial testing

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:


Further study details as provided by Emily Germain-Lee, UConn Health:

Primary Outcome Measures:
  • 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 ]

Estimated Enrollment: 600
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)
Arms Assigned Interventions
Experimental: Albright hereditary osteodystrophy natural history
Albright hereditary osteodystrophy: Natural history
Behavioral: neurocognitive and psychosocial testing

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.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Months to 89 Years   (Child, Adult, Senior)
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
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
Contact: Emily L Germain-Lee, MD 860-837-6700 egermain@connecticutchildrens.org
Contact: Lauren Dickson, B.S. 860-837-6759 ldickson@connecticutchildrens.org

Locations
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
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 Center and University of Connecticut School of Medicine
  More Information

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

Responsible Party: Emily Germain-Lee, Professor and Division Chief, Pediatric Endocrinology & Diabetes, UConn Health
ClinicalTrials.gov Identifier: NCT00209235     History of Changes
Other Study ID Numbers: 16-110
R21HD078864 ( U.S. NIH Grant/Contract )
First Submitted: September 13, 2005
First Posted: September 21, 2005
Last Update Posted: August 16, 2017
Last Verified: August 2017

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Emily Germain-Lee, UConn Health:
Pseudohypoparathyroidism Type 1A (PHP 1A)
Albright Hereditary Osteodystrophy
Growth Hormone Deficiency

Additional relevant MeSH terms:
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Calcium Metabolism Disorders