Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Endocrine |
| Therapuetic Areas: | Endocrinology, Other |
| Healthy: | No |
| Age Range: | Any - 89 |
| Updated: | 2/2/2019 |
| Start Date: | January 2003 |
| End Date: | December 2025 |
| Contact: | Emily L Germain-Lee, MD |
| Email: | egermain@connecticutchildrens.org |
| Phone: | 860-837-6700 |
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 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
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 (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.
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.
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
We found this trial at
1
site
282 Washington St
Hartford, Connecticut 06106
Hartford, Connecticut 06106
(860) 545-9000
Principal Investigator: Emily L Germain-Lee, MD
Phone: 860-837-6700
Connecticut Children's Medical Center Connecticut Children’s Medical Center is a nationally recognized, 187-bed not-for-profit children’s...
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