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

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 (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)

Conditions

• Pseudohypoparathyroidism Type 1A
• Albright Hereditary Osteodystrophy
• Pseudopseudohypoparathyroidism

Interventions

BEHAVIORAL

Neurocognitive and psychosocial testing

Neurocognitive and psychosocial testing

Sponsors & Collaborators

• Johns Hopkins University

  collaborator OTHER

• Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

  collaborator OTHER

• UConn Health

  collaborator OTHER

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  collaborator NIH

• Connecticut Children's Medical Center

  lead OTHER

Principal Investigators

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

Study Design

Allocation

NA

Purpose

OTHER

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

2 Months

Max Age

89 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2003-01-31

Primary Completion

2030-10-31

Completion

2030-12-31

Countries

• United States

Study Locations