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Trial record 2 of 3 for:    MSUD (Maple Syrup Urine Disease)

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

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ClinicalTrials.gov Identifier: NCT01659749
Recruitment Status : Recruiting
First Posted : August 8, 2012
Last Update Posted : October 18, 2019
Sponsor:
Information provided by (Responsible Party):
Rani Singh PhD, Emory University

Tracking Information
First Submitted Date  ICMJE August 6, 2012
First Posted Date  ICMJE August 8, 2012
Last Update Posted Date October 18, 2019
Actual Study Start Date  ICMJE June 1995
Estimated Primary Completion Date July 2035   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: October 16, 2019)
  • Change in plasma Amino Acid concentration [ Time Frame: Baseline, Week 1 ]
    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.
  • Change in Dietary intake of Phenylalanine [ Time Frame: Baseline, Week 1 ]
    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.
Original Primary Outcome Measures  ICMJE Not Provided
Change History
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria
Official Title  ICMJE 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).
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.
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  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Prevention
Condition  ICMJE
  • Pregnancy
  • Phenylketonuria
Intervention  ICMJE Behavioral: Metabolic camp
To use an recreational camp setting to instruct PKU females of reproductive age how to make responsible dietary and reproductive decisions.
Study Arms  ICMJE 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.
Intervention: Behavioral: Metabolic camp
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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: August 15, 2018)
200
Original Actual Enrollment  ICMJE
 (submitted: August 7, 2012)
35
Estimated Study Completion Date  ICMJE July 2037
Estimated Primary Completion Date July 2035   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: Female
Ages  ICMJE 11 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE Yes
Contacts  ICMJE
Contact: Rani H Singh, PhD RD 4047278519 rsingh@emory.edu
Contact: Kristen Narlow, MS RD 4047788610 kristen.narlow@emory.edu
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT01659749
Other Study ID Numbers  ICMJE IRB00002447a
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Rani Singh PhD, Emory University
Study Sponsor  ICMJE Emory University
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Rani H Singh, PhD RD Emory University
PRS Account Emory University
Verification Date October 2019

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP