Albright Hereditary Osteodystrophy, Pseudohypoparathyroidism
Conditions
Keywords
Pediatric obesity, pseudohypoparathyroidism, Albright Hereditary Osteodystrophy
Brief summary
Pseudohypoparathyroidism type 1a (PHP1a) is a rare disease that causes childhood obesity and learning difficulties. This study will investigate eating behaviors and perform cognitive testing on children with PHP1a. The investigators will compare their results to those of healthy siblings and other obese children.
Detailed description
Pseudohypoparathyroidism type 1a (PHP1a) is a genetic disorder that causes early-onset, syndromic obesity and cognitive impairment. This study aims to evaluate eating behaviors, cognition and executive function in children with PHP1a, compared with healthy siblings and matched obese controls.
Interventions
None listed
Sponsors
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Vanderbilt University Medical Center
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
6 Years to 18 Years
Healthy volunteers
Yes
Inclusion criteria
* Clinical diagnosis of PHP1a, sibling of a patient with PHP1a or matched obese control
Exclusion criteria
(PHP1a): * Treatment with appetite-altering drug or initiation of a new weight loss program in the past 3 months * Type 2 diabetes
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Intelligence Quotient | one day | Intelligence quotient as measured by Kaufman Brief Intelligence Test, 2nd Edition. This scale yields standard scores where the mean is 100 and one standard deviation is 15. Higher scores indicate better function. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Pseudohypoparathyroidism Type 1a Study group | 16 |
| Healthy Siblings Control group | 8 |
| Obese Patients Control group | 15 |
| Total | 39 |
Baseline characteristics
| Characteristic | Pseudohypoparathyroidism Type 1a | Healthy Siblings | Obese Patients | Total |
|---|---|---|---|---|
| Age, Categorical <=18 years | 16 Participants | 8 Participants | 15 Participants | 39 Participants |
| Age, Categorical >=65 years | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical Between 18 and 65 years | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Asian | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Black or African American | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) More than one race | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) White | 16 Participants | 8 Participants | 15 Participants | 39 Participants |
| Sex: Female, Male Female | 10 Participants | 5 Participants | 11 Participants | 26 Participants |
| Sex: Female, Male Male | 6 Participants | 3 Participants | 4 Participants | 13 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk | EG002 affected / at risk |
|---|---|---|---|
| deaths Total, all-cause mortality | 0 / 16 | 0 / 8 | 0 / 15 |
| other Total, other adverse events | 0 / 16 | 0 / 8 | 0 / 15 |
| serious Total, serious adverse events | 0 / 16 | 0 / 8 | 0 / 15 |
Outcome results
Primary
Intelligence Quotient
Intelligence quotient as measured by Kaufman Brief Intelligence Test, 2nd Edition. This scale yields standard scores where the mean is 100 and one standard deviation is 15. Higher scores indicate better function.
Time frame: one day
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Pseudohypoparathyroidism Type 1a | Intelligence Quotient | 85.9 units on a scale | Standard Deviation 17.2 |
| Healthy Siblings | Intelligence Quotient | 104.3 units on a scale | Standard Deviation 8.9 |
| Obese Patients | Intelligence Quotient | 103.2 units on a scale | Standard Deviation 11.5 |