Publications and Presentations
Homology Medicines (HMI™) is dedicated to advancing the scientific and clinical understanding of genetic medicines for rare disorders. View our presentations and publications supporting our platform.
The abstracts included on this page may not reflect the most up-to-date data given the timing of abstract submission and/or presentation as well as data generated from ongoing studies.
Method for Identification and Characterization of Sites of Homology Directed Strand Cross-Over Using rAAV Integration Vectors
Potts S, Prout J, Palladino A, et al. ASGCT 2023.
Preclinical Studies with HMI-104, an AAVHSC Vectorized C5 Monoclonal Antibody, for the Treatment of PNH
Sharma Y, Scarpitti M, Rubin H, et al. ASGCT 2023.
Gene Therapy Candidate for Metachromatic Leukodystrophy (MLD): Optimization of HMI-204 Development Candidate
St-Martin T, Gall K, Pla A, et al. ASGCT 2023.
Re-Dosing of Liver-Targeted AAV Within and Across Clades in Mice: Effects of Neutralizing Antibodies and Vector-Specific Factors
Huynh D, Van Lieshout L, Sears G, et al. ASGCT 2023.
Targeted Approach to Immunosuppression with AAV Gene Therapy: Nonclinical Support of Clinical Approaches
McGregor T, Kim MJ, Huynh D, et al. ASGCT 2023.
Ocular Biodistribution of AAVHSCs Across Species and Routes of Administration
Sarin S, Avila N, Lotterhand J, et al. ASGCT 2023.
Single Systemic Administration of a Gene Therapy Leading to Disease Treatment in Metachromatic Leukodystrophy Arsa Knockout Mice
St. Martin T, Seabrook T, Gall K, et al. The Journal of Neuroscience 2023.
LNA Blockers for Improved Amplification Selectivity
Prout J, Tian M, Palladino A, et al. Scientific Reports 2023.
pheEDIT: A Phase 1, Open-Label, Dose-Escalation Safety and Efficacy Gene Editing Study Evaluating HMI-103 in Adults with Classical PKU
Shioshita G, Henrick J, Simiele C, et al. ACMG 2023.
juMPStart: Phase 1, Open-Label, Dose-Escalation Safety and Efficacy Gene Therapy Study Evaluating HMI-203 in Adults with MPS II
Shioshita G, Henrick J, Verhofstadt C, et al. ACMG 2023.
Tacrolimus administration in combination with dexamethasone reduces neutralizing antibody formation against AAV vector and increases transgene expression in cynomolgus macaques
Huynh D, Francone O, Wright T, et al. WORLDSymposium 2023.
Gene Therapy for Metachromatic Leukodystrophy: Lead Candidate Optimization
St. Martin T, Gall K, Newman J, et al. WORLDSymposium 2023.
DNA read count calibration for single molecule, long read sequencing
Soares L, Hanscom T, Selby D, et al. Scientific Reports 2022.
A Phase 1, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of HMI-103, a One-Time Gene-Editing Vector in Adult Participants with Classical PKU Due to PAH Deficiency
Sandhu A, Simiele C, Benard L, et al. ASHG 2022.
Single-Molecule, Modified Base Sequencing to identify frequency and cause of rAAV Vector Breakpoints
Thompson J, Selby D, Hanscom T, et al. ASHG 2022.
Natural Variations in AAVHSC16 Significantly Reduce Liver Tropism and Maintain Broad Distribution to Periphery and CNS
Smith LJ, Schulman L, Barnes C, et al. Molecular Therapy 2022.
Sustained Expression of C5mAb in Presence of Murine and Human FcRn
Sharma Y, Rubin H, Avila N, et al. ASGCT 2022.
rAAV Vector Breakpoints Determined Using Single-Molecule, Modified Base Sequencing
Selby DE, Hanscom T, Soares L, et al. ASGCT 2022.
Capsid Selection Strategy for the Development of Gene Therapies Based on Structural and Functional Analyses of a Panel of AAVHSCs
Smith LJ, Avila N, Behmoiras L, et al. ASGCT 2022.
Genome-Wide and Directed Integration Assays Identify and Quantify rAAV In Vivo Gene Editing Sites in Mice With Humanized Livers
Thompson JF, Von Stetina J, Prout J, et al. ASGCT 2022.
The Structure of the 501 Residue on AAVHSC16 is Imperative to the Functional Binding to Cell Surface Glycans, which is a Key Step in Successful Transduction
Smith L, Schulman L, Van Lieshout L, et al. ASGCT 2022.
Naturally Occurring Variations at the 501 and 706 Residues on AAVHSC16 Contribute to Reduced Liver Tropism and Slower Serum Clearance
Smith L, Schulman L, Van Lieshout L, et al. ASGCT 2022.
Sustained Correction of a Murine Model of Phenylketonuria and Integration Into the Genome Following a Single Administration of an AAVHSC15 Phenylalanine Hydroxylase Gene Editing Vector
Benard L, Lamppu D, Von Stetina JR, et al. ASGCT 2022.
Patient-Centric Adaptations for pheNIX Clinical Trial Evaluating HMI-102 Gene Therapy in Adults with PKU in the Era of COVID-19
Donahue J, White Y, Sandhu A, et al. ACMG 2022.
Summary of Nonclinical Data for Gene Therapy Developmental Candidate HMI-203 for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome.
Smith L, Patel K, Seabrook T, et al. WORLDSymposium 2022.
Clinical trial design for HMI-203 investigational gene therapy for Mucopolysaccharidosis (MPS II) informed by cross-correction potential and KOL Input
Gingras J, Haroldson J, Smith L, et al. WORLDSymposium 2022.
Patient and physician perspectives inform clinical trial design for a single intravenous dose of HMI-203, a gene therapy candidate for adults with mucopolysaccharidosis type II
Haroldson J, Witalisz C, Mayfield C, et al. WORLDSymposium 2022.
AAVHSCs and Nervous System-Targeted Gene Therapy for Lysosomal Storage Disorders
Seabrook T, Patel K, Smith L, et al. WORLDSymposium 2022.
Blood-Brain-Barrier Crossing Leads to Long-Term Efficacy in the CNS of HMI-203: Gene Therapy Development Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome
Smith L, Patel K, Gingras J, et al. ESGCT 2021.
Gene Therapy-mAb Platform Targets Complement Protein 5 Using AAVHSCs
Sharma Y, Rubin H, Avila N, et al. ESGCT 2021.
Long-Term Systemic Expression and Cross-Correction Ability of HMI-203, Investigational Gene Therapy Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome
Patel K, Smith L, Gingras J, Tzianabos A, et al. ASHG 2021.
HMI-103: An Investigational Gene Editing Vector for Phenylketonuria (PKU)
Benard L, Lamppu D, Prasad A, et al. ESGCT 2021.
Neutralizing Antibody Prevalence Toward a Hematopoietic Stem Cell-Derived AAV and Immunoassays for Clinical Trial Enrollment
Klem T, Woodcock S, Smith A, et al. ESGCT 2021.
Patient-Focused Drug Development for a Single Intravenous Dose of HMI-203 Gene Therapy in Adult Mucopolysaccharidosis (MPS) II, or Hunter Syndrome, Patients
Haroldson J, Witalisz CJ, Martin R,. et al. ASHG 2021.
Genome-Wide Integration Assay for rAAV Mediated Homologous Recombination (HR) in Human Hepatocytes Demonstrated Precision of In Vivo Gene Editing Approach
Thompson J, Von Stetina J, Prout J, et al. ASHG 2021.
AAVHSCs, a Nuclease-Independent Approach for Editing of Post-Mitotic Neurons in Non-human Primate Retina and Human Organotypic Explants
Sarin S, Chen H-M, Seabrook T, et al. ARVO 2021.
Functional Characterization of AAVHSCs Compared to AAV serotypes: Activation of Cellular Pathways In vitro and In Vivo Transduction Properties
Gingras J, St-Martin T, Gall K, et al. ASGCT 2021.
Investigational Genetic Medicine Approaches for Phenylketonuria (PKU)
Lamppu D, Wright J, Benard L, et al. ASGCT 2021.
Long-Term Expression of HMI-203: Investigational Gene Therapy Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome
Smith L, Patel K, Gingras J, et al. ASGCT 2021.
Transducing the Liver as an Antibody Factory using AAVHSCs
Sharma Y, Rubin H, Avila N, et al. ASGCT 2021.
Wildtype AAV2 Rep Protein Produces Higher Titer AAVHSC Vectors with Improved Packaging Profiles Compared to Clade F Associated Chimeric Rep
Van Lieshout L, Golebiowski D, Rubin M, et al. ASGCT 2021.
Next Generation AAV Drug Products: Enhanced Stability & Clinical Ease for High Titer Preparations
Karpes LB, Peters TJ, Bailey M, et al. ASGCT 2021.
Gene Therapy Candidate for Metachromatic Leukodystrophy (MLD): Summary of Preclinical In Vivo Data Following an Intravenous Delivery of HMI-202
Gingras J, St-Martin T, Gall K, et al. ASGCT 2021.
HMI-203: Gene Therapy Developmental Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome
Patel K, Smith L, Seabrook T, et al. ACMG 2021.
The pheNIX Trial: First-in-Human Gene Therapy Trial for PKU Due to Phenylalanine Hydroxylase (PAH) Deficiency
Bodamer O, Burton B, Iles J, et al. ACMG 2021.
HMI-202: Gene Therapy Development Candidate for Metachromatic Leukodystrophy (MLD)
Gingras J, St-Martin T, Gall K, et al. WORLDSymposium 2021.
HMI-203: Investigational Gene Therapy for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome
Patel K, Smith L, Gingras J, Tzianabos A, et al. WORLDSymposium 2021.
The pheNIX Trial: the First-In-Human Gene Therapy Trial for PKU due to Phenylalanine Hydroxylase (PAH) Deficiency
Bodamer O. NECMP 2020.
Investigational gene therapy for treatment of metachromatic leukodystrophy (MLD)
Gingras J, St-Martin T, Gall K, et al. ASHG 2020.
Molecular characterization of precise in vivo targeted gene integration in human cells using AAVHSC15
Chen H-M, Resendes R, Ghodssi A, et al. PLOS ONE 2020.
Development and Scalability of Transfection-Based Production and Purification of Novel Clade F Adeno-Associated Viruses Isolated from Human Hematopoietic Stem Cells (AAVHSCs)
Mercaldi M, Stanvick M, Gilmore D, et al. ASGCT 2020.
AAVHSCs Transduction Does Not Significantly Elicit p53-Mediated Apoptosis or Alter Cell Cycle in Human iPSCs and Primary Cells When Compared to Non-Clade F AAV Vectors
Duong KL, Boyd M, Smith S, et al. ASGCT 2020.
Role of Terminal Galactose In Cellular Uptake, Intracellular Trafficking, and Tissue Tropism Using Adeno-Associated Viruses Isolated From Human Stem Cells (AAVHSCs)
Smith S, Barnes C, Behmoiras L, et al. ASGCT 2020.
Gene Therapy for Metachromatic Leukodystrophy (MLD) That Crosses the Blood-Nerve and Blood-Brain Barriers in Mice and Non-Human Primates
Gingras J, St-Martin T, Gall K, et al. ASGCT 2020.
In Vivo Transduction of Murine Hematopoietic Stem Cells After Intravenous Injection of AAVHSC15 AND AAVHSC17
Lang JF, Kivaa M, Smith LJ, et al. ASGCT 2020.
Molecular Characterization of Precise In Vivo Targeted Gene Editing in Human Cells using AAVHSC15, a New AAV Derived from Hematopoietic Stem Cells (AAVHSC)
Chen H-M, Resendes R, Ghodssi A, et al. ASGCT 2020.
Molecular Design and Characterization of Packaging Plasmid Sequences for Improved Production of Novel Clade F AAVHSCs
Van Lieshout L, Adamson Small, L Seidel S, et al. ASGCT 2020.
Sustained Correction of a Murine Model of Phenylketonuria Following a Single Intravenous Administration of AAVHSC15-PAH
Ahmed SS, Rubin H, Wang M, et al. Molecular Therapy 2020.
HMI-202: Investigational Gene Therapy for Treatment of Metachromatic Leukodystrophy
Gingras J, St-Martin T, Gall K, et al. WORLDSymposium 2020.
AAVHSC Characterization for Developing Treatments for Human Genetic Diseases of the Nervous System
Seabrook TA, Gingras J, Patel K, et al. WORLDSymposium 2020.
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
Levy H, Lamppu D, Anastosoaie V, et al. Molecular Genetics and Metabolism 2020.
Clade F AAVHSCs cross the blood brain barrier and transduce the central nervous system in addition to peripheral tissues following intravenous administration in nonhuman primates
Ellsworth JL, Gingras J, Smith LJ, et al. PLOS ONE 2019.
Nuclease-free genome editing by AAVHSC vectors leads to in vivo genome correction and amelioration of disease phenotype in a mouse model of phenylketonuria (PKU)
Ellsworth J, Smith L, St. Martin T, et al. ESGCT 2019.
Impact of Full and Empty Particle Concentration on Product Quality and in vivo Efficacy of HMI-102 in a Mouse Model of Phenylketonuria (PKU)
Faulkner E, Adamson-Small L, Ahmed S, et al. ESGCT 2019.
HMI-202, Investigational Gene Therapy for Metachromatic Leukodystrophy (MLD).
Gingras J, St-Martin T, Gall K, et al. ASHG 2019.
HMI-102, an Investigational Gene Therapy for Phenylketonuria (PKU)
Lamppu D, Ahmed S, Benard L, et al. ASHG 2019.
A 5-Year Retrospective Study of Individuals with Phenylketonuria (PKU) Treated at Two Specialized Clinics
Zhao J, Lamppu D, Kinch D, et al. ASHG 2019.
AAVHSC15 Packaging Human Phenylalanine Hydroxylase Results in Sustained In Vivo Correction of Phenylketonuria Following a Single IV Administration in the Murine Model
Ahmed SS, Wang M, Ellsworth JL, et al. ESHG 2019.
Novel AAVHSCs Demonstrate Efficient Crossing of the Blood-Brain-Barrier and Potential in Gene Therapy for Metachromatic Leukodystrophy (MLD)
Gingras J, St-Martin T, Gall K, et al. ASGCT 2019.
Nuclease-Free and Promoter-Less AAVHSC-Mediated Genome Editing In Vivo Corrects the Disease Phenotype in a Mouse Model of Phenylketonuria
Wright J, Ellsworth JL, St. Martin T, et al. ASGCT 2019.
AAVHSCs Target Multiple Cell Types in the Eye and have Potential to Treat Rare Retinal Diseases
Sarin S, Avila N, Smith L, et al. ARVO 2019.
A 5-Year Retrospective Study of Individuals with Phenylketonuria (PKU) Treated at Two Specialized Clinics
Lamppu D, Kinch D, Anastasoaie V, et al. ASGCT 2019.
Biodistribution and Tolerability of HMI102, a Novel AAVHSC15 Encoding Human Phenylalanine Hydroxylase, in Cynomolgus Monkeys
Wright TL, Ellsworth JL, Ahmed SS, et al. ASGCT 2019.
Development of a Scalable Platform for GMP Production of High Quality, Novel Clade F rAAV Vectors Following Comparison of HEK293 Mammalian and the SF9-Baculovirus Systems
Lobikin M, Ahmed S, Avila N, et al. ASGCT 2019.
Single Intravenous Administration of AAVHSC15 Packaging a Human Phenylalanine Hydroxylase Transgene Sustainably Corrects Phenylketonuria in Mouse Model
Ahmed S, Benard L, Wang M, et al. ACMG 2019.
CNS Biodistribution of AAVHSCs and their Gene Therapy Application for Targeting Metachromatic Leukodystrophy (MLD)
Seabrook TA, Patel K, St-Martin T, et al. Gordon Conference 2019.
Single Intravenous Dose of AAVHSC15 Packaging a Human Phenylalanine Hydroxylase Transgene Results in Durable Correction of Phenylketonuria In Vivo
Francone OL, Ahmed SS, Ellsworth JL, et al. WORLDSymposium 2019.
Biodistribution of AAVHSCs in the Central Nervous System of Non-Human Primates
Gringas J, Oliveri K, St-Martin T, et al. Society for Neuroscience 2018.
Durable Correction of Phenylketonuria In Vivo Following a Single Intravenous Dose of AAVHSC15 Packaging a Human Phenylalanine Hydroxylase Transgene
Ahmed S, Ellsworth JL, Francone O, et al. ESGCT 2018.
Stem cell-derived clade F AAVs mediate high-efficiency homologous recombination-based genome editing
Smith LJ, Wright J, Clark G, et al. PNAS 2018.
Sustained Correction of Phenylketonuria by a Single Dose of AAVHSC Packaging a Human Phenylalanine Hydroxylase Transgene
Ellsworth JL, Ahmed S, Francone O, et al. NPKUA 2018.
Nuclease-Free Genome Editing by AAVHSC Vectors Leads to In Vivo Genome Correction and Amelioration of Disease Phenotype in a Mouse Model of Phenylketonuria (PKU)
Wright J, Smith L, Adamson-Small L, et al. XVIIth International Parvovirus Workshop 2018.
Widespread Transduction of the Central Nervous System Following Systemic Delivery of AAVHSC7, AAVHSC15 and AAVHSC17 in Non-Human Primates
Smith L, Rubin H, Gringas J, et al. XVIIth International Parvovirus Workshop 2018.
Transduction of Photoreceptor and Pigmented Epithelial Cells Following a Single Subretinal Injection of AAVHSC17 in Minipigs
Ellsworth J, Rubin H, Seymour A, et al. XVIIth International Parvovirus Workshop 2018.
AAVHSC Nuclease-Free Genome Editing Leads to In Vivo Genome Correction and a Significant Reduction in Disease Phenotype in a Mouse Model of Phenylketonuria
Wright J, Smith L, Adamson-Small L, et al. ASGCT 2018.
Sustained Correction of Phenylketonuria by a Single Dose of AAVHSC Packaging a Human Phenylalanine Hydroxylase Transgene
Ahmed S, Ellsworth JL, Francone O, et al. ASGCT 2018.
Transduction of Photoreceptor and Pigmented Epithelial Cells Following a Single Subretinal Injection of AAVHSC17 in Minipigs
Ellsworth JL, Rubin H, Seymour A. ASGCT 2018.
Low seroprevalence of neutralizing antibodies targeting two Clade F AAV in humans
Ellsworth JL, O'Callaghan M, Rubin H, et al.
AAVHSC vectors mediate highly precise and efficient homologous recombination-based gene editing
Smith LJ, Wright JB, Atallah G. ASGCT 2017.
Widespread transduction of the central nervous system following systemic delivery of AAVHSC17 in non-human primates
Ellsworth JL, Smith LJ, Rubin H, et al. ASGCT 2017.
Evaluation of on-target and off-target precision of AAVHSC-mediated genome editing
Wright JB, Dollive S, St. Martin T, et al. ASGCT 2017.
Prevalence of neutralizing antibodies targeting two novel clade F AAV in human sera
Ellsworth JL, Hillard R, Seymour A, et al. ASGCT 2017.
Gene transfer properties and structural modeling of human stem cell-derived AAV
Smith LJ, Ul-Hasan T, Carvaines SK, et al. The American Society of Gene & Cell Therapy 2014.