Barbara Kay Burton MD

Medical Genetics•Chicago, IL

Clinical Biochemical Genetics, Clinical Genetics

Professor in Pediatrics, Northwestern University Medical School

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2300 Childrens PlazaChicago, IL 60614
Phone+1 773-880-4462
Fax+1 773-929-9565

Education & Training

McGaw Medical Center of Northwestern UniversityResidency, Pediatrics, 1973 - 1975
Northwestern University The Feinberg School of MedicineClass of 1973

Certifications & Licensure

IL State Medical License 1975 - 2026
NC State Medical License 1977 - 1990
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics

Awards, Honors, & Recognition

Super Doctor SuperDoctors.com
Top MD Consumers Checkbook

Clinical Trials

Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Start of enrollment: 2010 Dec 01
Terminated
Phase 2
An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Start of enrollment: 2013 May 01
Completed
Phase 3
A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Start of enrollment: 2014 Feb 06
Completed
Phase 2
Natural History Study of Children With Metachromatic Leukodystrophy Start of enrollment: 2015 Nov 02
Terminated
Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Start of enrollment: 2014 Mar 24
Completed
Phase 2, Phase 3
MEASuRE: Metreleptin Effectiveness And Safety Registry Start of enrollment: 2016 Oct 11
RECRUITING
Roles: Contact, Principal Investigator
A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II) Start of enrollment: 2023 Feb 28
RECRUITING
PHASE4
Roles: Principal Investigator
Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome
AVAILABLE
Roles: Principal Investigator
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Publications & Presentations

PubMed

Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up.
Barbara K Burton, Paul R Harmatz, Veronika Horvathova, Alice Lail, Christina Lampe
Molecular Genetics and Metabolism. 2025-07-01
Long-term management strategies for pegvaliase use in phenylketonuria: Lessons learned from the phase 3 PRISM open-label extension study.
Cary O Harding, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Ogun Sazova, Kristin Lindstrom
Genetics in Medicine. 2025-05-20
1 citations
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.
Joseph Muenzer, Barbara K Burton, Paul Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia
Journal of Inherited Metabolic Disease. 2025-05-01

Journal Articles

TANGO2: Expanding the Clinical Phenotype and Spectrum of Pathogenic Variants
Jennifer N Dines, Heather C Mefford, Barbara Burton, Joline Dalton, Alice Basinger, Peter Karachunski, Can Ficicioglu, Katherine L Helbig, Nature

Press Mentions

Effectiveness of Idursulfase in Patients with MPS IIMarch 7th, 2025
‘We Have a Healthy Child:’ Eau Claire Couple Says Their Son Is Living Proof of the Need for Rare Disease ScreeningFebruary 16th, 2020
‘What’s Wrong with My Son?’ Wisconsin Rejects $4 Test for Rare, Terminal DiseaseJanuary 22nd, 2020
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