Metabolic Camp for Pregnant Women with Phenylketonuria

Overseen By Kristen Narlow, MS RD

Age: Any Age

Sex: Female

Trial Phase: Academic

Sponsor: Emory University

Disqualifiers: Not female, Under 11, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 7

200 Participants Needed

Trial Summary

Do I need to stop my current medications for the trial?

The trial information does not specify whether you need to stop taking your current medications.

What data supports the effectiveness of the treatment Metabolic Camp for Pregnant Women with Phenylketonuria?

Research shows that nutrition and lifestyle changes, including diet and exercise, can positively influence metabolic health during pregnancy, which may help manage conditions like phenylketonuria. Nutritional education and support programs have been effective in managing gestational diabetes, suggesting similar benefits for metabolic conditions in pregnancy. ^{1 2 3 4 5}

How does the Metabolic Camp treatment for pregnant women with phenylketonuria differ from other treatments?

The Metabolic Camp for pregnant women with phenylketonuria is unique because it combines education, social support, and active involvement in food preparation to improve adherence to a low-phenylalanine diet, which is crucial for managing PKU during pregnancy. This approach not only helps in reducing blood phenylalanine levels but also addresses the psychological and social aspects of dietary management, which are often overlooked in traditional treatments. ^{6 7 8 9 10}

What is the purpose of this trial?

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.

Research Team

Rani H Singh, PhD RD

Principal Investigator

Emory University

Eligibility Criteria

This trial is for females aged 11 or older diagnosed with Phenylketonuria (PKU) or similar amino acid disorders, who can understand and agree to the study's terms. It includes adult camp counselors in good health willing to follow camp rules and study procedures.

Inclusion Criteria

Willing and able to provide written informed consent

Willing and able to comply with relevant camp guidelines and study procedures

I am an adult camp counselor or staff in good health.

Exclusion Criteria

Those not fitting the inclusion criteria

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Metabolic Camp

Participants attend a week-long educational and social support program focusing on nutrition and diet self-management for PKU and MSUD.

1 week

7 days (in-person)

Follow-up

Participants are monitored for changes in dietary intake and plasma amino acid concentration post-camp.

4 weeks

Treatment Details

Interventions

• Metabolic camp

Trial Overview The effectiveness of an educational Metabolic Camp designed to teach teens and young women about PKU/MSUD and nutrition. The study will compare pregnancy outcomes between attendees of this camp and those with PKU who haven't attended.

Participant Groups

Group I: Metabolic Camp Experimental Treatment 1 Intervention

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.

Who Is Running the Clinical Trial?

Emory University

Lead Sponsor

Trials

1,735

Recruited

2,605,000+

Findings from Research

Nutrition plays a crucial role in influencing gene expression related to metabolism, particularly during pregnancy, where dietary factors can affect the developmental health of the fetus and later susceptibility to obesity and diabetes.

Exercise is highlighted as a key non-pharmacological intervention that can help counteract the negative effects of poor nutrition, potentially reducing the risk of metabolic diseases like obesity and type 2 diabetes in both mothers and their children.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Maternal diet, bioactive molecules, and exercising as reprogramming tools of metabolic programming. Mathias, PC., Elmhiri, G., de Oliveira, JC., et al.[2021]

High gestational weight gain is the strongest predictor of maternal overweight or obesity after pregnancy, and both high and low weight gains during pregnancy are linked to an increased risk of childhood obesity.

Despite revised guidelines from the US Institute of Medicine in 2009, less than one third of pregnant women meet the recommended weight gain levels, highlighting the need for effective interventions to optimize weight gain during pregnancy to prevent obesity in mothers and their children.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Optimizing weight gain in pregnancy to prevent obesity in women and children. Herring, SJ., Rose, MZ., Skouteris, H., et al.[2023]

The implementation of a structured model of care for gestational diabetes in regional Australian sites significantly increased the proportion of women receiving best practice nutrition therapy from 3.5% to 87.8% at Site 1, demonstrating the efficacy of the approach.

Despite challenges such as organizational barriers, the project successfully reduced the number of women requiring medication for gestational diabetes, indicating improved management of the condition through enhanced support and resources.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Clinically relevant improvements achieved from a facilitated implementation of a gestational diabetes model of care. Wilkinson, SA., McCray, SJ., Kempe, A., et al.[2019]

Women of reproductive age should be educated about the risks of prepregnancy obesity and excessive weight gain during pregnancy, as these factors can lead to serious complications like gestational diabetes and preterm birth.

Behavioral counseling focused on improving diet and physical activity is recommended for overweight and obese women starting before conception and continuing for at least 12 to 18 months postpartum to promote better maternal and fetal health outcomes.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Position of the Academy of Nutrition and Dietetics: Obesity, Reproduction, and Pregnancy Outcomes. Stang, J., Huffman, LG.[2022]

Adequate energy and nutrient intake is crucial for normal fetal growth in women with diabetes mellitus (DM), but dietary modifications and exercise are also necessary to maintain healthy blood sugar levels and prevent negative pregnancy outcomes.

There is ongoing controversy regarding nutritional management in gestational diabetes mellitus (GDM), with conflicting guidelines and evidence on its effectiveness, highlighting the need for personalized dietary prescriptions based on individual preferences, body weight, and other health factors.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Diabetes in pregnancy--dietary management. Serci, I.[2016]

A low-phenylalanine diet, started before conception and maintained throughout pregnancy, can effectively prevent embryopathy in women with phenylketonuria, highlighting the importance of dietary management in this population.

Women with phenylketonuria are at risk for nutritional imbalances due to long-term vegetarian diets and the strict dietary requirements during pregnancy, necessitating careful monitoring of protein, iron, calcium, and other essential nutrients with the help of a medical and dietetic team.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[Dietary recommendations for pregnant women affected with phenylketonuria]. Abadie, V., Depondt, E., Bresson, JL., et al.[2019]

The Resource Mothers Study showed that women with phenylketonuria (PKU) who received support from trained Resource Mothers were more likely to achieve metabolic control earlier in pregnancy, with 53% in the RM group reaching control by 10 weeks gestation compared to 39% in the control group.

Women who started their low-phenylalanine diet after becoming pregnant and had a Resource Mother achieved metabolic control significantly earlier (mean gestational age of 22.4 weeks) than those without support (29.8 weeks), highlighting the importance of social support in managing PKU during pregnancy.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings. Rohr, F., Munier, A., Sullivan, D., et al.[2022]

The International Maternal PKU Collaborative Study, involving 468 pregnancies, demonstrated that initiating a low-phenylalanine diet preconception or early in pregnancy significantly reduces health risks associated with maternal PKU syndrome, leading to 331 live births.

The study also highlighted improvements in maternal outcomes, such as a decrease in adolescent pregnancies from 31% to 9%, an increase in college attendance from 5% to 16%, and a rise in average IQ from 78 to 88, showcasing the positive impact of education and early dietary intervention.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The International Collaborative Study on maternal phenylketonuria: organization, study design and description of the sample. Friedman, EG., Koch, R., Azen, C., et al.[2019]

A study involving 54 mothers with phenylketonuria (PKU) across 81 pregnancies revealed that many women with suboptimal metabolic control overestimated their ability to manage their condition, with 53% misjudging their metabolic status, which can lead to serious risks for their babies.

The research highlighted the importance of personal support and specialized metabolic care in maintaining metabolic control during pregnancy, emphasizing the need for targeted training programs to help PKU mothers and their families understand and manage their condition effectively.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy. Rohde, C., Thiele, AG., Baerwald, C., et al.[2022]

A Maternal PKU camp for 25 young women significantly improved their knowledge of PKU and the associated diet, leading to a 37% reduction in blood phenylalanine levels during the camp and a 20% reduction at follow-up.

The camp fostered social support, with 96% of participants maintaining contact afterward, although it did not significantly change attitudes towards treatment or coping with PKU.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Social factors and the meaning of food in adherence to medical diets: results of a maternal phenylketonuria summer camp. Waisbren, SE., Rokni, H., Bailey, I., et al.[2019]

References

1. Germany pubmed.ncbi.nlm.nih.gov

Maternal diet, bioactive molecules, and exercising as reprogramming tools of metabolic programming. [2021]

2. England pubmed.ncbi.nlm.nih.gov

Optimizing weight gain in pregnancy to prevent obesity in women and children. [2023]

3. Australia pubmed.ncbi.nlm.nih.gov

Clinically relevant improvements achieved from a facilitated implementation of a gestational diabetes model of care. [2019]

4. United States pubmed.ncbi.nlm.nih.gov

Position of the Academy of Nutrition and Dietetics: Obesity, Reproduction, and Pregnancy Outcomes. [2022]

5. England pubmed.ncbi.nlm.nih.gov

Diabetes in pregnancy--dietary management. [2016]

6. France pubmed.ncbi.nlm.nih.gov

[Dietary recommendations for pregnant women affected with phenylketonuria]. [2019]

7. United States pubmed.ncbi.nlm.nih.gov

The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings. [2022]

8. Germany pubmed.ncbi.nlm.nih.gov

The International Collaborative Study on maternal phenylketonuria: organization, study design and description of the sample. [2019]

9. England pubmed.ncbi.nlm.nih.gov

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy. [2022]

10. United States pubmed.ncbi.nlm.nih.gov

Social factors and the meaning of food in adherence to medical diets: results of a maternal phenylketonuria summer camp. [2019]