Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism

• ClinicalTrials.gov Identifier: NCT02411461
• Recruitment Status: Completed
• First Posted: April 8, 2015
• Results First Posted: June 8, 2018
• Last Update Posted: November 13, 2019
• Sponsor: Vanderbilt University Medical Center
• Collaborator: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Information provided by (Responsible Party): Ashley Shoemaker, Vanderbilt University Medical Center

Study Description

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.

Condition or disease
Pseudohypoparathyroidism; Albright Hereditary Osteodystrophy

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.

Study Design

• Study Type: Observational
• Actual Enrollment: 39 participants
• Observational Model: Case-Control
• Time Perspective: Cross-Sectional
• Official Title: Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism
• Study Start Date: December 1, 2014
• Actual Primary Completion Date: January 2017
• Actual Study Completion Date: January 2017

Groups and Cohorts

Group/Cohort
Pseudohypoparathyroidism type 1a; Study group
Healthy siblings; Control group
Obese patients; Control group

Outcome Measures

Primary Outcome Measures :

1. Intelligence Quotient [ Time Frame: 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.

Eligibility Criteria

• Ages Eligible for Study: 6 Years to 18 Years (Child, Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes
• Sampling Method: Non-Probability Sample

Study Population

Children with pseudohypoparathyroidism type 1a (PHP1a), their healthy siblings and matched obese controls

Criteria

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

Exclusion Criteria (Controls):

• Obesity due to a genetic syndrome, growth hormone deficiency, untreated hypothyroidism, Cushing syndrome or exogenous glucocorticoid administration
• Weight loss greater than 10% over the previous 6 months
• Autism or other significant learning disorder
• Type 2 diabetes
• Other significant medical condition

Contacts and Locations

Locations

United States, Tennessee

Vanderbilt University

Nashville, Tennessee, United States, 37232

Sponsors and Collaborators

Vanderbilt University Medical Center

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Investigators

• Principal Investigator: Ashley Shoemaker, MD; Vanderbilt University

More Information

Additional Information:

Vanderbilt PHP Research Group Website 

Publications:

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.

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.

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.

Perez KM, Lee EB, Kahanda S, Duis J, Reyes M, Jüppner 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.

• Responsible Party: Ashley Shoemaker, Assistant Professor of Pediatrics, Pediatric Endocrinology and Diabetes, Vanderbilt University Medical Center
• ClinicalTrials.gov Identifier: NCT02411461
• Other Study ID Numbers: VR7195; 1K23DK101689-01A1 ( U.S. NIH Grant/Contract )
• First Posted: April 8, 2015
• Results First Posted: June 8, 2018
• Last Update Posted: November 13, 2019
• Last Verified: October 2019

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

Keywords provided by Ashley Shoemaker, Vanderbilt University Medical Center:

Pediatric obesity; pseudohypoparathyroidism; Albright Hereditary Osteodystrophy

Additional relevant MeSH terms:

Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism; Obesity; Cognitive Dysfunction; Overnutrition; Nutrition Disorders; Overweight; Body Weight; Cognition Disorders; Neurocognitive Disorders; Mental Disorders; Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Calcium Metabolism Disorders