Department of Human Genetics

Clinical Research Trials

Palynziq and PKU: Treatment impacts on diet quality, neurological health, nutritional status, and the metabolome

Phenylketonuria (PKU) is an inherited metabolic disorder that impairs the metabolism of the essential amino acid phenylalanine (Phe). Without stringent dietary control, Phe accumulates in the blood and brain of PKU patients, leading to severe cognitive deficits. Achieving metabolic control, defined as blood Phe levels within the range of 120-360 μmol/L, has been a significant challenge for PKU patients using traditional diet therapy. The new FDA approved pharmacologic treatment, Palynziq, offers a new approach that could significantly reduce the burden of PKU by improving blood Phe levels and allowing for a less restrictive diet. As little is known about the global metabolic and physiologic effects of Palynziq, the present study aims to capture changes in diet quality, neurological health, nutritional status, the nutritional metabolome, and patient perceptions of mental and social health with sustained Palynziq therapy.

PKUDOS: PKU Demographics, Outcomes, and Safety Registry

The objective of this study is to evaluate the safety of long-term treatment with Kuvan®.

Online Research Study: Anxiety and Cognition in PKU

This is a collaborative research project between Emory University (PI: Rani Singh) and the University of Missouri (PI: Shawn Christ) that utilizes online/remote assesment to exaime the relationship between anxiety, diet and thinking abilities in adults with Phenylketonuria.

Metabolic Camp

Metabolic Camp: Educational and Social Support Interventions and Their Cumulative Effects on Pregnancy Outcome and Quality of Life in Teen and Adult Women with Phenylketonuria (PKU)

The purpose of this project is to study the effectiveness of teaching teens and young women with Phenylketonuria (PKU) and other Inherited Metabolic Disorders (IMDs) 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.


Medical Nutrition Therapy For Prevention Program

The Medical Nutrition Therapy for Prevention Program (MNT4P) is a unique initiative in Georgia that provides precise and personalized assistance to patients living with metabolic disorders, as well as their families. MNT4P provides nutrition support that includes bridging the gap for coverage of medical foods, low-protein modified foods, and treatment-related supplies, assisting patients with insurance navigation, and providing comprehensive medical nutrition therapy.

Meet the Team

Kristen Narlow, MS, RD, LD, CC Research Dietitian/Chef

Teresa D. Douglas, PhD, MS Associate Staff Scientist

Teresa Douglas

Saran Gurung Project Manager

Meriah Schoen, PhD, RDN Post Doctoral Fellow

Meriah Schoen

Lindsay Ryan MS, RDN, LD Genetic Metabolic Clinical & Research Dietitian Education & Training Coordinator

Lindsay Ryan

Training in Genetic Metabolic Nutrition & Inherited Metabolic Disorders

We offer Training for Nutrition Post-Doctoral Students, Post-Masters Students, and Laney Graduate School GDBBS PhD Nutrition Students.



Jonathan Russell, Managing Senior Director of Development, Discovery Programs
Emory University, Advancement and Alumni Engagement
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