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 |
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Recruitment Status :
Recruiting
First Posted : August 8, 2012
Last Update Posted : December 21, 2021
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| Condition or disease | Intervention/treatment | Phase |
|---|---|---|
| Pregnancy Phenylketonuria | Behavioral: Metabolic camp | Not Applicable |
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 (Clinical Trial) |
| Estimated Enrollment : | 200 participants |
| Allocation: | N/A |
| Intervention Model: | Single Group Assignment |
| Masking: | None (Open Label) |
| Primary Purpose: | Prevention |
| Official Title: | 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). |
| Actual Study Start Date : | June 1995 |
| Estimated Primary Completion Date : | July 2035 |
| Estimated Study Completion Date : | July 2037 |
| Arm | Intervention/treatment |
|---|---|
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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.
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Behavioral: Metabolic camp
To use an recreational camp setting to instruct PKU females of reproductive age how to make responsible dietary and reproductive decisions. |
- 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.
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| Ages Eligible for Study: | 11 Years and older (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | Female |
| Accepts Healthy Volunteers: | Yes |
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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01659749
| Contact: Rani H Singh, PhD RD | 4047278519 | rsingh@emory.edu | |
| Contact: Kristen Narlow, MS RD | 4047788610 | kristen.narlow@emory.edu |
| United States, Georgia | |
| Emory University Department of Human Genetics | Recruiting |
| Atlanta, Georgia, United States, 30322 | |
| Contact: Rani H Singh, PhD RD 404-727-8519 rsingh@emory.edu | |
| Principal Investigator: | Rani H Singh, PhD RD | Emory University |
Documents provided by Rani Singh PhD, Emory University:
| Responsible Party: | Rani Singh PhD, Professor, Emory University |
| ClinicalTrials.gov Identifier: | NCT01659749 |
| Other Study ID Numbers: |
IRB00002447a |
| First Posted: | August 8, 2012 Key Record Dates |
| Last Update Posted: | December 21, 2021 |
| Last Verified: | December 2021 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | No |
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Genetics Metabolic Nutrition Maternal PKU Phenylketonuria (PKU) |
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Phenylketonurias 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 Metabolic Diseases |