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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to evaluate the effectiveness of a special camp in helping young women with two rare conditions, Phenylketonuria (PKU) and Maple Syrup Urine Disease (MSUD), manage their diet and nutrition. The focus is on determining whether the camp experience, known as the Metabolic Camp, can improve pregnancy outcomes for women with PKU by reducing risks such as miscarriages and birth defects. Women and teens with PKU or MSUD who are interested in learning more about managing their condition may be suitable candidates for this trial. As an unphased trial, this study offers participants a unique opportunity to gain valuable insights into effectively managing their condition.

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 prior data suggests that the Metabolic Camp program is safe for participants?

Research has shown that Metabolic Camp, an educational and support program for females with PKU and MSUD, has operated for over 20 years. Participants have generally found it safe, with no reports of major safety issues or negative effects from the camp's activities. The camp emphasizes nutrition and self-care education in a supportive setting, which is considered safe and beneficial for those with these conditions.

The camp provides a space for participants to learn and share experiences. This approach aids in managing the condition and reduces risks during pregnancy. Overall, the program has a strong record of supporting women with PKU and MSUD. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Unlike standard treatments for phenylketonuria (PKU), which often focus on strict dietary restrictions and medical foods, the Metabolic Camp offers a unique educational and social support program. Researchers are excited about Metabolic Camp because it empowers women with PKU and maple syrup urine disease (MSUD) by teaching them how to manage their nutrition and diet effectively in a supportive environment. This approach not only aims to control the disease but also hopes to reduce the incidence of miscarriages and severe birth defects. By providing a community experience, the camp creates an engaging learning environment and generates valuable data for researchers.

What evidence suggests that the Metabolic Camp is effective for women with PKU?

Studies have shown that the Metabolic Camp, which participants in this trial will attend, provides valuable education and social support for women with Phenylketonuria (PKU) and Maple Syrup Urine Disease (MSUD). This camp helps participants understand the importance of nutrition and diet management. Research indicates that attendees often experience positive changes in their blood health, signaling improved well-being. The camp aims to lower the risk of miscarriages and severe birth defects, common issues for women with PKU. By offering a supportive environment, the camp has established itself as a unique and effective national program. ^{1 2 4 6 7}

Who Is on the Research Team?

Rani H Singh, PhD RD

Principal Investigator

Emory University

Are You a Good Fit for This Trial?

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 for a Trial Participant

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

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

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+

Published Research Related to This Trial

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]

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]

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]

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]

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]

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]

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]

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT01659749

Educational, Social Support, and Nutritional Interventions ... 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) ...

2. news.emory.edu news.emory.edu/stories/2025/06/er_emory_metabolic_camp_25-06-2025/story.html

Unique camp builds connection for women with rare health ... Emory's Department of Human Genetics has brought together women with PKU and MSUD for a six-day experience known as Metabolic Camp.

3. withpower.com withpower.com/trial/phase-phenylketonurias-5-1995-5c008

Metabolic Camp for Pregnant Women with Phenylketonuria 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) ...

4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC8895208/

Plasma metabolomic profile changes in females with ... This study aimed to characterize changes in the PKU plasma metabolome following a 5-d metabolic camp intervention and to compare PKU profiles with those of ...

5. centerwatch.com centerwatch.com/clinical-trials/listings/condition/835/phenylketonuria

Phenylketonuria Clinical Research Trials 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 ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC7203643/

Food insecurity in females with phenylketonuria - PMC This study assessed the prevalence of food insecurity in females with PKU and examined associations between food security status and dietary ...

7. msud-support.org msud-support.org/wp-content/uploads/2025/04/MSUD-NewsletterVolume43-1-Spring2025.pdf

MSUD Spring 25' Newsletter Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that requires lifelong medical care. People with. MSUD are missing an enzyme called ...