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| ID | Type | Description | Link |
|---|---|---|---|
| 1K23DK101689-01A1 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | NIH |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pseudohypoparathyroidism type 1a | Study group | ||
| Healthy siblings | Control group | ||
| Obese patients | Control group |
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| Measure | Description | Time Frame |
|---|---|---|
| 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. | one day |
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Inclusion Criteria:
Exclusion Criteria (PHP1a):
Exclusion Criteria (Controls):
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Children with pseudohypoparathyroidism type 1a (PHP1a), their healthy siblings and matched obese controls
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| Name | Affiliation | Role |
|---|---|---|
| Ashley Shoemaker, MD | Vanderbilt University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Vanderbilt University | Nashville | Tennessee | 37232 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 23229731 | Background | Shoemaker AH, Lomenick JP, Saville BR, Wang W, Buchowski MS, Cone RD. Energy expenditure in obese children with pseudohypoparathyroidism type 1a. Int J Obes (Lond). 2013 Aug;37(8):1147-53. doi: 10.1038/ijo.2012.200. Epub 2012 Dec 11. | |
| 25337124 | Background | Wang L, Shoemaker AH. Eating behaviors in obese children with pseudohypoparathyroidism type 1a: a cross-sectional study. Int J Pediatr Endocrinol. 2014;2014(1):21. doi: 10.1186/1687-9856-2014-21. Epub 2014 Oct 15. |
| Label | URL |
|---|---|
| Vanderbilt PHP Research Group Website | View source |
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| ID | Title | Description |
|---|---|---|
| FG000 | Pseudohypoparathyroidism Type 1a | Study group |
| FG001 | Healthy Siblings | Control group |
| FG002 | Obese Patients | Control group |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Pseudohypoparathyroidism Type 1a | Study group |
| BG001 | Healthy Siblings | Control group |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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. | Posted | Mean | Standard Deviation | units on a scale | one day |
|
1 day
Adverse events were recorded during the study visit only.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Pseudohypoparathyroidism Type 1a | Study group | 0 |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Ashley Shoemaker, Principal Investigator | Vanderbilt University Medical Center | 6153438116 | ashley.h.shoemaker@vanderbilt.edu |
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| ID | Term |
|---|---|
| D011547 | Pseudohypoparathyroidism |
| D063766 | Pediatric Obesity |
| ID | Term |
|---|---|
| D001851 | Bone Diseases, Metabolic |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D008664 | Metal Metabolism, Inborn Errors |
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| 25925491 | Background | Landreth H, Malow BA, Shoemaker AH. Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a. Horm Res Paediatr. 2015;84(1):1-5. doi: 10.1159/000381452. Epub 2015 Apr 23. |
| 29193623 | Background | Perez KM, Lee EB, Kahanda S, Duis J, Reyes M, Juppner H, Shoemaker AH. Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A. Am J Med Genet A. 2018 Feb;176(2):283-289. doi: 10.1002/ajmg.a.38534. Epub 2017 Nov 28. |
| BG002 |
| Obese Patients |
Control group |
| BG003 | Total | Total of all reporting groups |
| Participants |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
|
|
| 16 |
| 0 |
| 16 |
| 0 |
| 16 |
| EG001 | Healthy Siblings | Control group | 0 | 8 | 0 | 8 | 0 | 8 |
| EG002 | Obese Patients | Control group | 0 | 15 | 0 | 15 | 0 | 15 |
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| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D002128 | Calcium Metabolism Disorders |
| D009765 | Obesity |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D001835 | Body Weight |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |