Evaluating growth and cognitive effects in patients with Albright hereditary osteodystrophy
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
This study is testing how growth hormone treatment affects growth and overall health in people with Albright hereditary osteodystrophy while also looking at their mental and emotional well-being.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 600 (estimated) |
| Ages | 2 Months to 89 Years |
| Sex | All |
| Sponsor | Connecticut Children's Medical Center Academic / other |
| Locations | 1 site (Hartford, Connecticut) |
| Trial ID | NCT00209235 on ClinicalTrials.gov |
What this trial studies
This study follows the natural history of Albright hereditary osteodystrophy, focusing on patients with pseudohypoparathyroidism type 1A. It investigates the prevalence of growth hormone deficiency in these patients and evaluates the effects of growth hormone treatment on growth, weight, and overall health. Additionally, the study assesses neurocognitive and psychosocial aspects of the condition. The research aims to improve the quality of life for affected individuals by addressing both physical and psychological challenges associated with the disorder.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with pseudohypoparathyroidism type 1A who are either growth hormone deficient or meet specific criteria for growth hormone treatment.
Not a fit: Patients without a confirmed diagnosis of pseudohypoparathyroidism type 1A or those who do not meet the eligibility criteria will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved growth, weight management, and overall health for patients with pseudohypoparathyroidism type 1A.
How similar studies have performed: Previous studies have shown promising results in treating growth hormone deficiency in similar patient populations, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria for GH study: * Diagnosis of pseudohypoparathyroidism type 1A with mutation confirmation * 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 participant 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 FDA-approved criteria for idiopathic short stature or the SGA indication. Therefore, for all participants enrolling in the growth hormone portion of this study as of now, the growth hormone is used according to FDA-approved indications, and growth hormone use is according to standard of care clinical guidelines. Exclusion: * Absence of above diagnosis and failure to meet above criteria Inclusion Criteria for cognitive/behavioral studies: * Confirmed diagnosis of Pseudohypoparathyroidism type 1A and Pseudopseudohypoparathyroidism with mutation confirmation * Ages 4 - 65 yrs Exclusion: * Absence of above Inclusion Criteria for Natural History Study: * Confirmed diagnosis of Pseudohypoparathyroidism type 1A or Pseudopseudohypoparathyroidism with mutation confirmation * Ages 0.2 yrs - 89 yrs Exclusion: * Absence of above
Where this trial is running
Hartford, Connecticut
- Connecticut Children's Medical Center — Hartford, Connecticut, United States (Recruiting)
Study contacts
- Principal investigator: Emily L Germain-Lee, MD — Connecticut Children's Medical Ctr. and Univ. of Connecticut School of Medicine
- Study coordinator: Emily L Germain-Lee, MD
- Email: egermain@connecticutchildrens.org
- Phone: 860-837-6719
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.