What do healthcare providers and families managing inherited metabolic disorders need most? We design medical nutrition studies that can answer those questions.
Translational Research, Direct Impact
Medical Nutrition Therapy for Prevention (MNT4P) translates genetic metabolic nutrition research into actionable clinical and population-health strategies by integrating precision nutrition science with standardized medical nutrition therapy to strengthen early-phase trials, advance future treatments, and support evidence-based care.
Our research evolves based on patient needs:
- Precision and personalized nutrition that tailors care to individual genetic and lifestyle factors
- Technology integration that makes daily management easier and more effective
- Lifespan studies that optimize care from infancy through adulthood
- Health equity research that ensures innovations benefit all communities
Active Inherited Metabolic Disorder Research Initiatives
Clinical Trials and Treatment Innovation We’re actively testing new approaches through investigator-initiated and industry-sponsored clinical trials, focusing on novel PKU management strategies, new delivery methods for medical foods, and technology-assisted monitoring.
- Advancing early phase industry-sponsored clinical trials through standardized dietary assessment MNT4P provides comprehensive, standardized dietary assessment approach tailored for Phase I and Phase II industry-sponsored trials to improve data quality, minimizes inter-site variability, and strengthens the nutritional context needed for accurate interpretation of clinical outcomes.
- Clinical and Translational Research Our translational research integrates stable isotope techniques to precisely measure protein requirement, body composition, metabolic biomarkers, calorie expenditure, and standardized dietary assessment. These complementary assessments inform personalized nutrition strategies across early-phase clinical trials and clinical care.
Medical Food Access Research Program This IRB-approved research intervention at Emory University collects point-of-care data on medical food costs, insurance gaps, treatment adherence, and access barriers. These insights then inform broader healthcare policies.
WIC Partnership Research Through our collaboration with Georgia’s WIC Program, we collect valuable data from an average of 30 patients per month across 20+ counties, and study nutrition resource access and outcomes in low-income families with inherited metabolic disorders.
Metabolic Camp Research Our Metabolic Camp serves as an IRB-approved research platform studying pathophysiology, food access, biomarkers, and strategies for preventing poor maternal outcomes. This unique research model has generated over 20 published articles and abstracts.
Southeast Integrative Newborn Screening Consortium As one of two nationally-funded multi-state consortia, we collect large-scale data evaluating how early access to medical foods and trained nutrition workforce affects long-term patient outcomes. This collaborative effort works closely with regional partners including the Southeastern Regional Genetics Group (SERGG).
Biomarker Repository and Clinical Support Research Our IMD biomarker repository partners with the Georgia CTSA Bionutrition Core to study nutritional biomarkers and optimize both inpatient and outpatient care delivery. The core supports 3 active NIH-funded feeding studies and provides body composition and diet assessment services.
Palynziq Metabolome Study We’re investigating how Palynziq™ treatment affects diet quality, nutritional status, brain health, and the metabolome in adults with PKU. This study examines the broader physiological impacts of enzyme-substitution therapy through comprehensive assessments including body composition, energy metabolism, and neurological health markers.
Recent Publications
Our commitment to advancing genetic metabolic nutrition science continues through peer-reviewed research that directly informs clinical practice and policy.
Latest Research Highlights:
Pegvaliase Treatment Outcomes (2024) Long-term clinical trial results demonstrating sustained blood phenylalanine reductions in adults with PKU, providing crucial evidence for enzyme-substitution therapy effectiveness.
Female PKU Health Experiences (2024) Mixed-methods study exploring health management challenges faced by women with PKU, identifying key barriers and facilitators for optimal care.
Primary Care Genetics Integration (2025) Qualitative assessment of healthcare provider attitudes toward genetic services, informing educational initiatives to improve care coordination.
Telegenetics Best Practices (2024) Comprehensive guidelines for delivering genetic services via telehealth, developed through expert consensus to improve access to specialized care nationwide.
Human Milk in Metabolic Disorders (2025) Systematic review examining breastfeeding outcomes across inherited metabolic disorders, supporting evidence-based infant feeding recommendations.
PKU Dietary Management Research (2024) Analysis of dietary changes during pegvaliase treatment, contributing to refined nutritional protocols for emerging therapies.
From Insights to Clinical Implementation
Most research for inherited metabolic disorders happens in isolation. We bridge the gap between discovery and daily care, translating findings directly into better outcomes.
Research Pipeline Example:
- Clinical Observation: Families report struggling with anxiety around dietary management
- Formal Study: We conduct research measuring anxiety levels and identifying contributing factors
- Intervention Development: Based on findings, we create new counseling approaches and peer support programs
- Implementation: New approaches are integrated into our clinical services and Metabolic Camp programming [View Care Options]
- Training Integration: Successful interventions become part of our ECHO and eGNA training curricula [Explore Training Programs]
- Widespread Impact: Trained providers implement evidence-based support in their own communities
Research Impact and Nutrition Guidelines
Our work has produced evidence-based management guidelines for major IMDs, over 50 peer-reviewed articles from dietitian-led trials, and collaborations testing home monitoring devices. Our participation in multicenter studies like the PKUDOS Registry contributed safety data across 1,887 patients. This work translates directly into improved clinical practice.
As genetic metabolic nutrition evolves toward precision medicine, MNT4P is positioned to lead the integration of whole genome sequencing, artificial intelligence, and personalized nutrition approaches that will transform care for individuals with genetic disorders.