DwightKoeberlMD

Medical Genetics • Durham, NC

Clinical Biochemical Genetics, Clinical Genetics, Pediatric Medical Genetics

Associate Professor/Clinical Genetics

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Office
3000 Erwin Rd
Ste 200
Durham, NC 27705
Phone+1 919-684-6669

Fax+1 919-684-0983
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Education & Training

University of WashingtonFellowship, Medical Genetics and Genomics, 1993 - 1996
University of California (San Francisco)Residency, Pediatrics, 1990 - 1992
Mayo Graduate SchoolPh.D., Biochemistry, 1990
Mayo Clinic College of MedicineClass of 1990
Carleton CollegeB.A., Chemistry, Magna Cum Laude, 1984

Certifications & Licensure

CA State Medical License 1992 - Present
NC State Medical License 1999 - 2025
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Awards, Honors, & Recognition

America's Best Doctors 2009
Judith Graham Pool Fellowship National Hemophilia Society, University of Washington, 1993
March of Dimes Predoctoral Fellowship 1986
Sigma Xi Research Society Carleton College, 1984
Phi Beta Kappa Carleton College, 1984
National Merit Scholar Carleton College, 1980
Fellow (FAAP) American Academy of Pediatrics
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Clinical Trials

Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Start of enrollment: 2012 Jun 01
Completed
Phase 1
Safety and Efficacy of Albuterol in Individuals With Late-onset Pompe Disease Start of enrollment: 2013 Jun 01
Completed
Phase 1, Phase 2
Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy Start of enrollment: 2013 Sep 01
Completed
Phase 1, Phase 2
Pompe Gene Therapy- Screening for Eligibility Start of enrollment: 2017 Nov 01
Completed
AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease Start of enrollment: 2018 Dec 17
Active, not recruiting
Phase 1, Phase 2
Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease Start of enrollment: 2023 Jan 01
Withdrawn
Phase 2
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Publications & Presentations

PubMed

1 citations
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Andreas Schulze, Neal Sondheimer, Gerald S Lipshutz, Tarekegn Geberhiwot, Lerong Li, Junxiang Luo, Vanja Sikirica, Ling Jin, Min Liang, Mary Leuchars, Stephanie Grunew...> ;Nature. 2024 Apr 3
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Farmer, C., Thurm, A., Wassif, C., Cawley, N., Perreault, J., Dang Do, A., Guthrie, W., Cubit, L., Miller, J., Sutton, V., Rahhal, S., Bianconi, S., Hannah-Shmouni, F....> ;Molecular Genetics and Metabolism Reports. 2023 Dec 1
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, La...> ;Molecular Genetics and Metabolism Reports. 2023 Dec 1
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.
William B Hannah, Laura E Case, Edward C Smith, Crista Walters, Deeksha Bali, Priya S Kishnani, Dwight D Koeberl> ;JIMD Reports. 2023 Sep 1
3 citations
Gene therapy for glycogen storage diseases.
Dwight D Koeberl, Rebecca L Koch, Jeong-A Lim, Elizabeth D Brooks, Benjamin D Arnson, Baodong Sun, Priya S Kishnani> ;Journal of Inherited Metabolic Disease. 2024 Jan 1
3 citations
Genome editing usingCas9 in a canine model of glycogen storage disease Ia.
Benjamin Arnson, Hye Ri Kang, Elizabeth D Brooks, Dorothy Gheorghiu, Ekaterina Ilich, David Courtney, Jeffrey I Everitt, Bryan R Cullen, Dwight D Koeberl> ;Molecular Therapy. Methods & Clinical Development. 2023 Jun 8
2 citations
Clenbuterol Treatment Is Safe and Associated With Slowed Disease Progression in a Small Open-Label Trial in Patients With Amyotrophic Lateral Sclerosis.
Xiaoyan Li, Dwight D Koeberl, Michael W Lutz, Richard Bedlack> ;Journal of Clinical Neuromuscular Disease. 2023 Jun 1
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
M Laura Duque Lasio, Angela C Leshinski, Leigh Anne Flore, April Lehman, Natasha Shur, Parul B Jayakar, Bryan E Hainline, Alice A Basinger, William G Wilson, George A ...> ;Molecular Genetics and Metabolism. 2023 Jun 1
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics...
Loren D M Peña, Lindsay C Burrage, Gregory M Enns, Cary Harding, Jerry R Mendell, Zhiyv Neal Niu, Curt Scharfe, Timothy Yu, Dwight D Koeberl, , Esplin, E. D., Edward D...> ;Genetics in Medicine. 2023 Jun 1
2 citations
Successful AAV8 readministration: Suppression of capsid-specific neutralizing antibodies by a combination treatment of bortezomib and CD20 mAb in a mouse model of Pomp...
Su Jin Choi, John S Yi, Jeong-A Lim, Thomas F Tedder, Dwight D Koeberl, William Jeck, Ankit K Desai, Amy Rosenberg, Baodong Sun, Priya S Kishnani> ;The Journal of Gene Medicine. 2023 Aug 1
7 citations
Phase I study of liver depot gene therapy in late-onset Pompe disease.
Edward C Smith, Sam Hopkins, Laura E Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-Oh Han, Tracy G Spears, Jessica A Chichester, Edward H Bossen, Christoph P ...> ;Molecular Therapy. 2023 Jul 5
4 citations
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies.
Julie Lekstrom-Himes, P J Brooks, Dwight D Koeberl, Amy Brower, Aaron Goldenberg, Robert C Green, Jill A Morris, Joseph J Orsini, Timothy W Yu, Erika F Augustine> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2023 Mar 1
1 citations
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Parith Wongkittichote, Tae-Ik Choi, Oc-Hee Kim, Kacie Riley, Dwight Koeberl, Vinodh Narayanan, Keri Ramsey, Chris Balak, Charles E Schwartz, Anna Maria Cueto-Gonzalez,...> ;Clinical Genetics. 2023 Feb 1
2 citations
Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.
Andrew P VanDemark, Stacy L Hrizo, Samantha L Eicher, Jules Kowalski, Tracey D Myers, Megan R Pfeifer, Kacie N Riley, Dwight D Koeberl, Michael J Palladino> ;Disease Models & Mechanisms. 2022 May 1
2 citations
Efficacious Androgen Hormone Administration in Combination with Adeno-Associated Virus Vector-Mediated Gene Therapy in Female Mice with Pompe Disease.
Sang-Oh Han, Dorothy Gheorghiu, Alex Chang, Sweet Hope Mapatano, Songtao Li, Elizabeth Brooks, Dwight Koeberl> ;Human Gene Therapy. 2022 May 1
2 citations
Minimum Effective Dose to Achieve Biochemical Correction with Adeno-Associated Virus Vector-Mediated Gene Therapy in Mice with Pompe Disease.
Sang-Oh Han, Dorothy Gheorghiu, Songtao Li, Hye Ri Kang, Dwight Koeberl> ;Human Gene Therapy. 2022 May 1
11 citations
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
Jason Wang, Chris J. Zhou, Alastair Khodabukus, Sabrina Tran, Sang-oh Han, Aaron L. Carlson, Lauran Madden, Priya S. Kishnani, Dwight D. Koeberl, Nenad Bursac> ;Communications Biology. 2021 May 5
9 citations
Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.
Arsen S. Hunanyan, Boris Kantor, Ram S. Puranam, Courtney Elliott, Angela L McCall, Justin S Dhindsa, Promila Pagadala, Keri Wallace, Jordan Poe, Talha Gunduz, Aravind...> ;Human Gene Therapy. 2021 Feb 12
24 citations
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Cristan Farmer, Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett, Leandra N. Berry, Aleksandra Bruchey, Bruce A. Barshop, Elizabeth Berry-...> ;American Journal on Intellectual and Developmental Disabilities. 2020 Nov 1
23 citations
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.
Ashlee R. Stiles, Haoyue Zhang, Jian Dai, Patricia McCaw, James Beasley, Catherine Rehder, Dwight D. Koeberl, Marie T. McDonald, Deeksha Bali, Sarah P. Young> ;Molecular Genetics and Metabolism. 2020 Jul 1
9 citations
Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease.
Sang-oh Han, Songtao Li, Angela L McCall, Benjamin Arnson, Jeffrey I. Everitt, Haoyue Zhang, Sarah P. Young, Mai K. ElMallah, Dwight D. Koeberl> ;Molecular Therapy. Methods & Clinical Development. 2020 Jun 12
12 citations
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease
Dwight D. Koeberl, Laura E. Case, Ankit K. Desai, Edward C. Smith, Crista Walters, Sang-oh Han, Beth L. Thurberg, Sarah P. Young, Deeksha Bali, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2020 Feb 1
2 citations
Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease
Sang-oh Han, Alexina C. Haynes, Songtao Li, Dennis M. Abraham, Priya S. Kishnani, Richard Steet, Dwight D. Koeberl> ;Molecular Genetics and Metabolism. 2020 Feb 1
15 citations
Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia
Zollie A Yavarow, Hye-Ri Kang, Lauren R Waskowicz, Boon-Huat Bay, Sarah P. Young, Paul M. Yen, Dwight D. Koeberl> ;Human Molecular Genetics. 2020 Jan 15
12 citations
Links between autophagy and disorders of glycogen metabolism – Perspectives on pathogenesis and possible treatments
Benjamin L. Farah, Paul M. Yen, Dwight D. Koeberl> ;Molecular Genetics and Metabolism. 2020 Jan 1
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Journal Articles

Beta2 agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine pompe disease
Koeberl DD, Li S, Dai J, Thurberg BL, Bali D, and Kishnani PS, Mol Genet Metab, 1/1/2012
Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine Pompe disease
Zhang P, Sun B, Osada T, Rodriguiz R, Yang XY, Luo X, Kemper AR, Clay TM, Koeberl DD, Hum Gene Ther, 1/1/2012
Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus- mediated gene therapy
Sun,B, Young SP, Li P, Di C, Brown T, Salva MZ, Li S, Bird A, Yan Z, Auten R, Hauschka SD, and Koeberl DD, Mol Ther, 1/1/2008
Enhanced response to enzyme replacement therapy in Pompe disease following the induction of immune tolerance
Sun B, Bird A, Young SP, Kishnani PS, Chen YT, and Koeberl DD, Am J Hum Genet, 1/1/2007
Adjunctive Beta2-agonists reverse neuromuscular involvement in murine Pompe disease
Li S, Sun B, Nilsson MI, Bird A, Tarnopolsky MA, Thurberg BL, Bali D, Koeberl DD, FASEB
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Press Mentions

AskBio Gets $235 Million in Gene Therapy SupportApril 12th, 2019
AskBio Partners with TPG and Vida VenturesApril 11th, 2019
AskBio Reels in $235M to Ramp up Gene Therapy Clinical Trials, ManufacturingApril 11th, 2019
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Grant Support

Phase 1/2 Study of clenbuterol for the treatment of Pompe diseaseFood and Drug Administration2013–Present
Clinical Trial Planning in Pompe DiseaseNational Institutes of Health2013–2014
Enhanced muscle-targeted gene therapy for Pompe diseaseMuscular Dystrophy Association2012–2014
Mechanisms For Immune Tolerance In Pompe DiseaseEunice Kennedy Shriver National Institute Of Child Health &Human Development2009–2010
Gene Delivery To Striated Muscle By Systemic AAV VectorsNational Heart, Lung, And Blood Institute2006–2010