Selected Grants
A GLOBAL PROSPECTIVE OBSERVATIONAL REGISTRY OF PATIENTS WITH POMPE DISEASE
Clinical TrialPrincipal Investigator · Awarded by Amicus Therapeutics, Inc. · 2024 - 2033A Post-Authorization Safety Study (PASS) to Assess Long-term Safety in Patients with Pompe Disease Treated with Avalglucosidase alfa
Clinical TrialPrincipal Investigator · Awarded by Sanofi US · 2024 - 2030Unified Program for Therapeutics in Children
Inst. Training Prgm or CMEPreceptor · Awarded by National Institutes of Health · 2025 - 2030Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2022 - 2030Evaluation of children with the "late-onset" Pompe disease GAA variants identified by newborn screening: Guidance for in person or virtual monitoring
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2021 - 2029An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Saftey, Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment-naive Pediatric Participants with Infantile-Onset Pompe Disease (IOPD)
Clinical TrialPrincipal Investigator · Awarded by Sanofi US · 2022 - 2028Phase 3 Efficacy and Safety of ALXN1850
Clinical TrialPrincipal Investigator · Awarded by Alexion Pharmaceuticals, Inc. · 2024 - 2027Investigating the Central Nervous System Involvement in Pompe Disease to Facilitate Targeted Treatment Strategies and Improve Patient Management
ResearchPrincipal Investigator · Awarded by Acid Maltase Deficiency Association · 2025 - 2027Phase 3, Randomized, Open-label, Parallel-arm, Active-controlled, Multicenter Study to Evaluate Safety and Efficacy of ALXN1850 Versus Asfotase Alfa Administered Subcutaneously
Clinical TrialPrincipal Investigator · Awarded by Alexion Pharmaceuticals, Inc. · 2024 - 2027Medical Scientist Training Program
Inst. Training Prgm or CMEPreceptor · Awarded by National Institute of General Medical Sciences · 2022 - 2027A Phase 3, Randomized, Double-blinded, Placebo-controlled, Multicenter Study to Evaluate Efficacy and Safety of ALXN1850
Clinical TrialPrincipal Investigator · Awarded by Alexion Pharmaceuticals, Inc. · 2024 - 2027Gene therapy for glycogen storage disease type III
ResearchCo Investigator · Awarded by National Institute of Arthritis and Musculoskeletal and Skin Diseases · 2022 - 2027An Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in both ERT Experienced and ERT Naive Pediatric Subjects with Infantile- Onset Pompe Disease Aged 0 < 18
Clinical TrialPrincipal Investigator · Awarded by Amicus Therapeutics, Inc. · 2023 - 2026Assessment of GYS1 knockdown on Pompe disease
ResearchCo Investigator · Awarded by Alnylam U.S., Inc. · 2025 - 2026Clinical Pharmacokinetics and Safety Trials in Down Syndrome
Clinical TrialCo Investigator · Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development · 2019 - 2026Research Training in Allergy and Clinical Immunology
Inst. Training Prgm or CMEMentor · Awarded by University of North Carolina - Chapel Hill · 2000 - 2026GYS2 knockdown on liver disease in hepatic GSD
ResearchCo Investigator · Awarded by Alnylam Pharmaceuticals · 2025 - 2026LSD Registry
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2019 - 2026Phase 1 Study of In Utero Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases
ResearchCo Investigator · Awarded by University of California - San Francisco · 2022 - 2026A Prospective observational study to describe outcomes of alglucosidase alfa treatment in patients <6 months of age with infantile-onset Pompe disease (IOPD)
Clinical TrialPrincipal Investigator · Awarded by Sanofi US · 2022 - 2026Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease (CRIM)
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2022 - 2025Amicus ATB200+-04
Clinical TrialPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2019 - 2025Down Syndrome Clinical Trials Network
ResearchPrincipal Investigator · Awarded by Lumind RDS Foundation · 2018 - 2025An open-label ascending dose cohort study to assess the safety, pharmacokinetics, and preliminary efficacy of neoGAA (GZ402666) in patients with infantile-onset Pompe disease treated with alglucosidase alfa who demonstrate clinical decline
Clinical TrialPrincipal Investigator · Awarded by Sanofi US · 2018 - 2025An observational, longitudinal prospective, long-term registry of patients with hypophosphatasia
ResearchPrincipal Investigator · Awarded by Alexion Pharmaceuticals, Inc. · 2015 - 2025Long Term Follow-up and Treatment Outcomes for Individuals with Pompe Disease
ResearchPrincipal Investigator · Awarded by University of Minnesota · 2023 - 2025The Duke FUNCTION Center: Pioneering the comprehensive identification of combinatorial noncoding causes of disease
ResearchCo Investigator · Awarded by National Human Genome Research Institute · 2020 - 2025GSD Ib Natural History Study
ResearchPrincipal Investigator · Awarded by Sophie's Hope Foundation · 2023 - 2025An Open-label, Ascending-Dose, First-in-Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of Intravenous Infusions of ATB200 Alone and ATB200 Co-administered with Oral AT2221 in Adu
Clinical TrialPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2018 - 2025Biomarker studies in plasma from patients with Gaucher disease
ResearchCo Investigator · Awarded by Shire Human Genetics Therapies · 2018 - 2025Residency/Fellowship Training in Medical Genetics
FellowshipCo-Mentor · Awarded by Genzyme Corporation · 2022 - 2024A PHASE 3 OPEN-LABEL EXTENSION STUDY TO ASSESS THE LONG-TERM SAFETY AND EFFICACY OF INTRAVENOUS ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH LATE-ONSET POMPE DISEASE
Clinical TrialPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2020 - 2024Duke CTSA (TL1) Year 5
Inst. Training Prgm or CMEMentor · Awarded by National Institutes of Health · 2018 - 20242024 Pompe Patient Meetings
Inst. Training Prgm or CMEPrincipal Investigator · Awarded by Orsini Speciality Pharmacy · 2024 - 2024Untargeted transcriptomics of Phkg2-/- liver and plasma (the "Project")
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2022 - 2024Residency in Medical Genetics at Duke University
ResearchCo-Mentor · Awarded by Genzyme Corporation · 2021 - 2024Transfer of livers from WT mice in Study 1: MED Investigation
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2023 - 2024Defining the clinical characteristics for clinical trial endpoints of GSD VI and IX
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2022 - 2024CHARACTERIZATION OF GSD IX ¿2 and GSD VI MOUSE MODELS
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2022 - 2024Transfer of H&E stained liver slides from Phkg2-/- mice treated with AAV-mPhkg2 to Experimental Pathology Laboratories, Inc.
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2022 - 2024AAV Gene Therapy for the Treatment of GSD VI and IX a2: Determination of Efficacy between Duke Plasmids and Kriya Plasmids for restoring PYGL and PHKA2 (the "Project") Addendum #8
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2022 - 2024AAV Gene Therapy for the Treatment of GSD IX y2: Determination of Titer of Duke AAVs using Kriya Titering Methodologies
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2022 - 2024AAV Gene Therapy for the Treatment of GSD IX y2: Determination of Efficacy between Duke Plasmids and Kriya Plasmids for restoring PHKG2
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2022 - 2024AAV gene therapy for the treatment of Glycogen Storage Disease IX y2
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2022 - 2024Targeted Therapy for Pompe Disease
ResearchCo Investigator · Awarded by National Institutes of Health · 2019 - 2024A PHASE 3 DOUBLE-BLIND RANDOMIZED STUDY TO ASSESS THE EFFICACY AND SAFETY OF INTRAVENOUS ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH LATE-ONSET POMPE DISEASE COMPARED WITH ALGLUCOSIDASE ALFA
Clinical TrialPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2019 - 2024Liver-directed AAV gene therapy for PHKG2-Glycogen Storage Disease IX (GSD IX y2)
FellowshipPrincipal Investigator · Awarded by National Institutes of Health · 2021 - 2024Immunophenotyping of infantile Pompe disease
ResearchPrincipal Investigator · Awarded by Genzyme Corporation · 2019 - 2024Transfer of AAV-hPHKG2 Materials for Bridging Study
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2023 - 2024AAV-mPhkg2 Gene Therapy for the treatment of GSD IXy2
ResearchPrincipal Investigator · Awarded by Kriya Therapeutics · 2022 - 2023Gene therapy by Lipid Nanoparticle-Mediated Delivery of Agl Messenger RNA in GSD III dogs
ResearchPrincipal Investigator · Awarded by Ultragenyx Pharmaceutical · 2017 - 2023Sanofi NeoGAA
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2013 - 2023Postdoctoral Training in Genomic Medicine Research
Inst. Training Prgm or CMECo-Mentor · Awarded by National Institutes of Health · 2017 - 2023Immunophenotyping of patients with MPS II treated with enzyme replacement therapy
Clinical TrialPrincipal Investigator · Awarded by Takeda Pharmaceuticals U.S.A., Inc · 2022 - 2023A Phase 3, Randomized, Multicenter, Multinational, Double-Blinded Study Comparing the Efficacy and Safety of Repeated Bi-Weekly Infusions ff neoGAA (GZ402666) and Alglucosidase Alfa in Treatment Naive Patients With Late Onset Pompe Disease"
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2016 - 2023A Prospective Safety Sub-Registsry to Assess Anaphylaxis and Severe Allegric Reactions and Severe Cutaneious and Systemic Immune-mediated Reactions with Alglucosidase Alfa Treatment
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2016 - 2022Optimized GAA (GAA) as potentially improved therapeutic for the treatment of Pompe disease
ResearchCo Investigator · Awarded by Codexis, Inc. · 2020 - 2022Medical Scientist Training Program
Inst. Training Prgm or CMEMentor · Awarded by National Institutes of Health · 1997 - 2022Identifying Pathogenic Non-Coding Mutations in Rare Mendelian Disease
ResearchCo-Principal Investigator · Awarded by National Institutes of Health · 2019 - 2022Developing a management approach for patients with the "late-onset" Pompe disease GAA variant identified by newborn screening
ResearchPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2018 - 2022An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment with Velaglucerase alfa on Bone-related Pathology in Treatment-naive Patients with Type 1 Gaucher Disease
Clinical TrialPrincipal Investigator · Awarded by Shire Human Genetics Therapies · 2016 - 2022Serologic and genomic modifiers of beta-amyloid levels in an immuno-compromised cohort of adult Down syndrome patients
ResearchCo Investigator · Awarded by Infectious Diseases Society of America · 2021 - 2022Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2019 - 2021Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease (CRIM)
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2019 - 2021eLLiPSIS¿A Longitudinal, Observational Study to Examine the Measurement Characteristics of the Pompe Disease Symptom Scale and the Pompe Disease Impact Scale
Clinical TrialPrincipal Investigator · Awarded by Sanofi US · 2019 - 2021Long Term Follow-up and Treatment Outcomes for Individuals with Pompe Disease
ResearchPrincipal Investigator · Awarded by University of Minnesota · 2019 - 2021GSD III Clinical Data Manuscript Preparation
ResearchPrincipal Investigator · Awarded by Ultragenyx Pharmaceutical · 2019 - 2021Morquio A Registry Study
Clinical TrialPrincipal Investigator · Awarded by BioMarin Pharmaceutical, Inc. · 2017 - 2021A study of patient -reported health masures in adult patients with Pompe disease
Clinical TrialPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2017 - 2020Pompe Developmental IPAD Study
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2015 - 2020Feasibility of using Bortezomib-based immunosuppressive approach to deplete anti-AAV antibodies in mice
ResearchCo Investigator · Awarded by Asklepios BioPharmaceutical, Inc. · 2018 - 2020A longitudinal retrospective chart review of adults with HPP treated with asfotase alfa
Clinical TrialPrincipal Investigator · Awarded by Alexion Pharmaceuticals, Inc. · 2017 - 2020A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease
Clinical TrialCo Investigator · Awarded by National Institutes of Health · 2017 - 2020GAA-iTEM: Personalizing the Prediction of Anti-therapeutic Antibody Response in Pome Disease Patients
ResearchPrincipal Investigator · Awarded by EpiVax, Inc. · 2018 - 2020A Three-month, Randomized, Parallel Active Control, Single and Repeat Dose, Dose-escalation Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of VAL-1221 Delivered Intravenously (IV) in Ambulatory and Vent
Clinical TrialPrincipal Investigator · Awarded by Valerion Therapeutics, Inc · 2017 - 2020LDN: CRIM responses in Pompe disease
ResearchPrincipal Investigator · Awarded by University of Minnesota · 2009 - 2019Respiratory Muscle Training in Individuals With Pompe Disease
ResearchCollaborating Investigator · Awarded by National Institutes of Health · 2016 - 2019GSD IV Database Study
ResearchPrincipal Investigator · Awarded by Roivant Sciences, Inc. · 2015 - 2019Novel Approaches for Correcting Respiratory Insufficiency in Pompe Disease
ResearchMentor · Awarded by National Institutes of Health · 2014 - 2019A Prospective Non-interventional Study in Subjects with Late-onset Pompe Disease who are Currently Being Treated with Enzyme Replacement Therapy
ResearchPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2018 - 2019Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2016 - 2018Understanding cognitive and neurological pathologies in infantile Pompe disease
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2016 - 2018A Retrospective Characterization of Response to Enzyme Replacement Therapy in Late-onset Pompe Disease
Clinical TrialPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2017 - 2018Preclinical study of use of SVP-Rapamycin to induce immune tolerance to ERT in Pompe disease mice
ResearchCo Investigator · Awarded by Selecta Biosciences, Inc. · 2017 - 2018Evaluation of the use of Myozyme for treatment of glycogen storage disease type III and IV in murine disease models
ResearchCo Investigator · Awarded by Roivant Sciences, Inc. · 2015 - 2018Duke Research Training Program for Pediatricians
Inst. Training Prgm or CMETraining Faculty · Awarded by National Institutes of Health · 2002 - 2018Liver-specific knockdown of M6PR with RNAi therapeutics to increase enzyme delivery to muscle tissues of Pompe disease mice during ERT
ResearchCo Investigator · Awarded by Alnylam Pharmaceuticals · 2018 - 2018Alexion Adult HPP PK Study
Clinical TrialPrincipal Investigator · Awarded by Alexion Pharmaceuticals, Inc. · 2016 - 2018Role of Whole Body MRI as a Non-Invasive Technique for Characterizing Disease and Treatment Efficacy in Infantile Onset Pompe disease
Clinical TrialPrincipal Investigator · Awarded by Genzyme Corporation · 2016 - 2017AN OPEN-LABEL, ASCENDING-DOSE, FIRST-INHUMAN STUDY TO ASSESS THE SAFETY, TOLERABILITY, AND PHARMACOKINETICS OF INTRAVENOUS INFUSIONS OF ATB200 ALONE AND ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH POMPE DISEASE
Clinical TrialPrincipal Investigator · Awarded by Amicus Therapeutics Corporation · 2016 - 2017Identification of candidate genes for Pompe disease phenotype modifier genes
FellowshipPrincipal Investigator · Awarded by University of Minnesota · 2014 - 2017In vivo efficacy studies of Fab-GAA treatment for GSDII, III, and IV in murine disease models
ResearchCo Investigator · Awarded by Valerion Therapeutics, Inc · 2015 - 2017A Multicenter, longitudinal, non-drug study to assess the suitability of neurocognitive tests and functioning scales for the measurement of cognitive and functioning changes in children with Down syndrome BP29589.
Clinical TrialPrincipal Investigator · Awarded by Hoffman-La Roche, Inc. · 2015 - 2016To test the ability of SVP to prevent immune response in Pompe disease mouse model.
ResearchPrincipal Investigator · Awarded by Selecta Biosciences, Inc. · 2015 - 2016Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease
Clinical TrialCo Investigator · Awarded by Roivant Sciences, Inc. · 2015 - 2016Long-Term registry of patients with urea Cycle Disorders (UCD) HPN-100-014
Clinical TrialPrincipal Investigator · Awarded by Hyperion Therapeutics, Inc. · 2014 - 2016A randomized, double-blind, placebo-controlled, parallel group 26-week dose-investigating study to explore the pharmacokinetics, pharmacodynamic effects, efficacy, safety and tolerability of RO5186582 in children with Down syndrome aged 6-11 years.
Clinical TrialPrincipal Investigator · Awarded by F. Hoffmann-La Roche Ltd · 2015 - 2016The Duke Multidisciplinary Training Program in Pediatric Lung Disease
Inst. Training Prgm or CMEFaculty Member · Awarded by National Institutes of Health · 2010 - 2016Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars 2015-2016 Fellowship Award
FellowshipPrincipal Investigator · Awarded by American College of Medical Genetics and Genomics Foundation · 2015 - 2016Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease
Clinical TrialCo Investigator · Awarded by Food and Drug Administration · 2013 - 2016UNC-Duke Collaborative Clinical Pharmacology Postdoctoral Training Program
Inst. Training Prgm or CMEMentor · Awarded by University of North Carolina - Chapel Hill · 2011 - 2016Phase 3 BMN 701 in rhGAA Exposed Subjects with Late-Onset Pompe Disease
Clinical TrialPrincipal Investigator · Awarded by BioMarin Pharmaceutical, Inc. · 2014 - 2016Phase 2 Study of Efficacy, Safety and Tolerability of R05186582 in Adults with Adolescents with Down Syndrome (Clematis)
Clinical TrialPrincipal Investigator · Awarded by F. Hoffmann-La Roche Ltd · 2014 - 2016Roche Phase 2 Screening Study
Clinical TrialPrincipal Investigator · Awarded by Hoffman-La Roche, Inc. · 2013 - 2015Novel strategy for diagnosis of Pompe patients using next generation sequencing technologies
ResearchPrincipal Investigator · Awarded by Universite de Sherbrooke · 2014 - 2015Institutional Training Grant in Pediatric Cardiology
Inst. Training Prgm or CMEFaculty Member · Awarded by National Institutes of Health · 2009 - 2015Late Onset Pompe Disease Patient Meeting 2015
ConferencePrincipal Investigator · Awarded by BioMarin Pharmaceutical, Inc. · 2015 - 2015A retrospective, non-interventional, epidemiologic study of the natural history of patients with juvenile-onset hypophosphatasia (HPP)
ResearchPrincipal Investigator · Awarded by Alexion Pharmaceuticals, Inc. · 2014 - 2015Lysosomal Disease Network Fellowship
FellowshipMentor · Awarded by University of Minnesota · 2013 - 2014Clinical Trial Planning in Pompe Disease
ResearchCo Investigator · Awarded by National Institutes of Health · 2013 - 2014CTSA UL
ResearchInvestigator · Awarded by National Institutes of Health · 2006 - 2012Mechanisms for immune tolerance in Pompe Disease
ResearchCo Investigator · Awarded by National Institutes of Health · 2009 - 2011A Clinical Trial of Donepezil for Down Syndrome
ResearchPrincipal Investigator · Awarded by National Institutes of Health · 2001 - 2004External Relationships
- Alexion Pharmaceuticals, Inc. a subsidiary of AstraZeneca
- Alnylam
- Amicus Therapeutics
- Arobiotherapeutics
- AskBio (owned by Bayer)
- Astellas Gene Therapies (formerly Audentes Therapeutics, Inc)
- Baebies, Inc.
- Bayer
- Denali
- Genzyme Corporation (Sanofi Aventis)
- Maze Therapeutics
- Moderna Therapeutics, Inc.
- Takeda Pharmaceutical Co. Ltd.
This faculty member (or a member of their immediate family) has reported outside activities with the companies, institutions, or organizations listed above. This information is available to institutional leadership and, when appropriate, management plans are in place to address potential conflicts of interest.