Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria

NCT01659749 | Recruiting DMC

• 1 other identifier: IRB00002447a
• Study Type: interventional
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD) about their disease and nutrition related issues in a camp environment. It will also look at pregnancy outcome results in women with PKU who attended Metabolic Camp and compare their results to other women with PKU who have not attended the Metabolic Camp.

Conditions

Pregnancy; Phenylketonuria

Keywords

Genetics; Metabolic; Nutrition; Maternal PKU; Phenylketonuria (PKU)

Outcome Measures

Primary Outcomes (2)

• Change in plasma Amino Acid concentration

  Concentration of Phenylalanine in plasma (measured in mg/dL) will be measured the first day of metabolic camp and at the last day of the camp.

  Baseline, Week 1

• Change in Dietary intake of Phenylalanine

  Dietary intake of Phenylalanine (measured in mg/Kg) will be measured the first day of metabolic camp and at the last day of the camp, using a three-day diet food record that has been completed at baseline and post-camp.

  Baseline, Week 1

Study Arms (1)

Metabolic Camp

OTHER

Metabolic Camp is an educational and social support program for females age 11 through adult with phenylketonuria (PKU) and maple syrup urine disease (MSUD), two inherited metabolic disorders (IMD). Camp provides a supportive environment for adolescent girls and women to learn about the importance of nutrition and diet self-management, with the intention of arresting the disease process and minimizing the instances of miscarriages and severe birth defects, which are high in this population. After 20+ years, Metabolic Camp is established as a unique, national program allowing up to 35 campers to live and learn during a week of nutritional support and productive activities, while simultaneously providing researchers an opportunity to gather important data.

Behavioral: Metabolic camp

Interventions

Metabolic camp BEHAVIORAL

To use an recreational camp setting to instruct PKU females of reproductive age how to make responsible dietary and reproductive decisions.

Metabolic Camp

Eligibility Criteria

• Age: 11 Years+
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Diagnosed with PKU or other aminoacidopathy, female, age 11 or older, able to provide informed consent

You may not qualify if:

• Individuals eligible to participate in this study must meet all of the following criteria:
• Adult camp counselors or staff determined to be in good health.
• Not diagnosed with PKU, MSUD or other hereditary metabolic disorder
• Willing and able to provide written informed consent
• Willing and able to comply with relevant camp guidelines and study procedures

Sponsors & Collaborators

• Emory University: lead

Study Sites (1)

Emory University Department of Human Genetics

Atlanta, Georgia, 30322, United States

RECRUITING

Related Publications (1)

• Jani R, Coakley K, Douglas T, Singh R. Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency. Mol Genet Metab. 2017 Jun;121(2):104-110. doi: 10.1016/j.ymgme.2017.04.012. Epub 2017 Apr 28.

  PMID: 28465125 DERIVED

MeSH Terms

Conditions

Phenylketonurias; Phenylketonuria, Maternal

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Pregnancy Complications; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases

Study Officials

• Rani H Singh, PhD RD

  Emory University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Rani H Singh, PhD RD

CONTACT

4047278519; rsingh@emory.edu

Kristen Narlow, MS RD

CONTACT

4047788610; kristen.narlow@emory.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: PREVENTION
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: August 6, 2012
• First Posted: August 8, 2012
• Study Start: June 1, 1995
• Primary Completion (Estimated): July 1, 2035
• Study Completion (Estimated): July 1, 2037
• Last Updated: April 3, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)