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

Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD).

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.

Study Overview

• Status: Recruiting
• Conditions: Pregnancy; Phenylketonuria
• Intervention / Treatment: Behavioral: Metabolic camp

Detailed Description

Metabolic Camp is an educational and social support program with research opportunities that was developed in 1995 by Rani H. Singh, PhD, RD 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.

The aims of Metabolic Camp are 1) to implement education curriculum and support activities as an intervention program for females with PKU and MSUD, 2) to evaluate knowledge of disease and dietary management, dietary treatment compliance, quality of life, and reproductive choice issues and assess change in outcomes post-Camp, 3) to gather data through the implementation of a research protocol during baseline and post-Camp each year, and 4) to provide clinical and research training in IMD for professionals, from dietitians to medical students. Campers must complete an informed consent process, should they decide to participate in research activities. All campers submit a three-day food record and blood samples to measure plasma amino acids on the first and last day of camp, both of which are not classified as research activities, but rather standard of care for their disorder. Additional studies such as indirect calorimetry, bone health markers, anthropometric markers, nutritional status, mental and emotional wellbeing, neurocognitive functioning, access to disease specific care, metabolomic profiling, gut microbiota, and blood and urine analysis, have been and may continue to be assessed in those who participate in research pre and post-Camp. These are novel investigations for the study of IMD and essential to understand the physiological effects of Camp.

In over 20 years of Metabolic Camp, the following data have been collected: health history and demographics, anthropometrics, dietary intake, compliance with medically prescribed diet, quality of life, physical activity, plasma amino acids, select blood and urine biomarkers, and bone density. Data are stored in REDCap, allowing evaluation of short- and long-term outcomes on the life course of females with PKU and MSUD. Each year, phenylalanine (Phe)/leucine (Leu) blood concentrations of campers decrease over the one week camp period, demonstrating better metabolic control and compliance with diet. Campers' knowledge of disease etiology, management, and effects, including Maternal PKU Syndrome (MPKU) are improved. Social support networks are strengthened by meeting peers with the same or similar disorder. The study protocol includes a comprehensive assessment of blood and urine biomarkers to examine PKU from a much broader approach compared to the traditional measurement of a single biomarker to assess patient status. Beneficial to campers and clinicians alike, Metabolic Camp is an invaluable experience to gain insight, knowledge, and stimulate new ideas related to research and optimal patient care.

• Study Type: Interventional
• Enrollment (Estimated): 200
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Rani H Singh, PhD RD; Phone Number: 4047278519; Email: rsingh@emory.edu
• Study Contact Backup: Name: Kristen Narlow, MS RD; Phone Number: 4047788610; Email: kristen.narlow@emory.edu

Study Locations

• United States
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Recruiting
      • Emory University Department of Human Genetics
      • Contact: Rani H Singh, PhD RD; Phone Number: 404-727-8519; Email: rsingh@emory.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 11 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

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

Exclusion Criteria:

• Those not fitting the inclusion criteria

Inclusion Criteria for healthy controls

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Prevention
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Emory University
• Investigators: Principal Investigator: Rani H Singh, PhD RD, Emory University

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 1995
• Primary Completion (Estimated): July 1, 2035
• Study Completion (Estimated): July 1, 2037

Study Registration Dates

• First Submitted: August 6, 2012
• First Submitted That Met QC Criteria: August 7, 2012
• First Posted (Estimated): August 8, 2012

Study Record Updates

• Last Update Posted (Actual): March 12, 2024
• Last Update Submitted That Met QC Criteria: March 7, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Keywords: Genetics; Nutrition; Metabolic; Phenylketonuria (PKU); Maternal PKU
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: IRB00002447a

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No