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)

What this Trial Is About

This research aims to study the effects of educational, social support, and nutritional interventions delivered in a camp setting for teenage and adult females with Phenylketonuria (PKU) or Maple Syrup Urine Disease (MSUD), two inherited metabolic disorders. The study focuses on improving knowledge about disease and diet management, nutritional compliance, quality of life, and pregnancy outcomes, comparing women who attend the camp with those who do not. The camp has been running since 1995 and serves as a national program for education and research in this population. The intervention is Metabolic Camp, a week-long program where up to 35 females aged 11 and older live together in a supportive environment. They receive education about nutrition and self-management of their condition aimed at reducing disease complications, including miscarriages and birth defects. The camp includes productive activities and provides an opportunity for researchers to collect important health and dietary data. Participants complete food records and blood tests to measure plasma amino acids at the start and end of camp as part of standard care. Additional assessments may include metabolic profiling, bone health, nutritional status, mental and emotional wellbeing, and other biomarkers. Researchers evaluate changes in amino acid levels and dietary phenylalanine intake as primary outcomes. Data collected over the years also cover quality of life, physical activity, and metabolic control. Participation involves education, social support, and various health assessments during the camp week.

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