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.
DNA read count calibration for single molecule, long read sequencing
Soares L, Hanscom T, Selby D, et al.
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.
Single-Molecule, Modified Base Sequencing to identify frequency and cause of rAAV Vector Breakpoints
Thompson J, Selby D, Hanscom T, et al.
Natural Variations in AAVHSC16 Significantly Reduce Liver Tropism and Maintain Broad Distribution to Periphery and CNS
Smith LJ, Schulman L, Barnes C, et al.
Sustained Expression of C5mAb in Presence of Murine and Human FcRn
Sharma Y, Rubin H, Avila N, et al.
rAAV Vector Breakpoints Determined Using Single-Molecule, Modified Base Sequencing
Selby DE, Hanscom T, Soares L, et al.
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.
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.
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.
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.
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.
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.
Summary of Nonclinical Data for Gene Therapy Developmental Candidate HMI-203 for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome. WORLDSymposium™ 2022
Smith L, Patel K, Seabrook T, et al.
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.
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.
AAVHSCs and Nervous System-Targeted Gene Therapy for Lysosomal Storage Disorders
Seabrook T, Patel K, Smith L, et al.
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.
Gene Therapy-mAb Platform Targets Complement Protein 5 Using AAVHSCs
Sharma Y, Rubin H, Avila N, et al.
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.
HMI-103: An Investigational Gene Editing Vector for Phenylketonuria (PKU)
Benard L, Lamppu D, Prasad A, et al.
Neutralizing Antibody Prevalence Toward a Hematopoietic Stem Cell-Derived AAV and Immunoassays for Clinical Trial Enrollment
Klem T, Woodcock S, Smith A, et al.
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, PharmD; Witalisz CJ, MBA; Martin R, MD. et al.
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.
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.
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.
Investigational Genetic Medicine Approaches for Phenylketonuria (PKU)
Lamppu D, Wright J, Benard L, et al.
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.
Transducing the Liver as an Antibody Factory using AAVHSCs
Sharma Y, Rubin H, Avila N, et al.
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.
Next Generation AAV Drug Products: Enhanced Stability & Clinical Ease for High Titer Preparations
Karpes LB, Peters TJ, Bailey M, et al.
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.
HMI-203: Gene Therapy Developmental Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome
Patel K, Smith L, Seabrook T, et al.
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.
HMI-202: Gene Therapy Development Candidate for Metachromatic Leukodystrophy (MLD)
Gingras J, St-Martin T, Gall K, et al.
HMI-203: Investigational Gene Therapy for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome
Patel K, Smith L, Gingras J, Tzianabos A, et al.
The pheNIX Trial: the First-In-Human Gene Therapy Trial for PKU due to Phenylalanine Hydroxylase (PAH) Deficiency
Bodamer O.
Investigational gene therapy for treatment of metachromatic leukodystrophy (MLD)
Gingras J, St-Martin T, Gall K, et al.
Molecular characterization of precise in vivo targeted gene integration in human cells using AAVHSC15
Chen H-M, Resendes R, Ghodssi A, et al.
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.
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.
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.
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.
In Vivo Transduction of Murine Hematopoietic Stem Cells After Intravenous Injection of AAVHSC15 AND AAVHSC17
Lang JF, Kivaa M, Smith LJ, et al.
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.
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.
Sustained Correction of a Murine Model of Phenylketonuria Following a Single Intravenous Administration of AAVHSC15-PAH
Ahmed SS, Rubin H, Wang M, et al.
HMI-202: Investigational Gene Therapy for Treatment of Metachromatic Leukodystrophy
Gingras J, St-Martin T, Gall K, et al.
AAVHSC Characterization for Developing Treatments for Human Genetic Diseases of the Nervous System
Seabrook TA, Gingras J, Patel K, et al.
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
Levy H, Lamppu D, Anastosoaie V, et al.
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.
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.
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.
HMI-202, Investigational Gene Therapy for Metachromatic Leukodystrophy (MLD).
Gingras J, St-Martin T, Gall K, et al.
HMI-102, an Investigational Gene Therapy for Phenylketonuria (PKU)
Lamppu D, Ahmed S, Benard L, et al.
A 5-Year Retrospective Study of Individuals with Phenylketonuria (PKU) Treated at Two Specialized Clinics
Zhao J, Lamppu D, Kinch D, et al.
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.
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.
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.
AAVHSCs Target Multiple Cell Types in the Eye and have Potential to Treat Rare Retinal Diseases
Sarin S, Avila N, Smith L, et al.
A 5-Year Retrospective Study of Individuals with Phenylketonuria (PKU) Treated at Two Specialized Clinics
Lamppu D, Kinch D, Anastasoaie V, et al.
Biodistribution and Tolerability of HMI102, a Novel AAVHSC15 Encoding Human Phenylalanine Hydroxylase, in Cynomolgus Monkeys
Wright TL, Ellsworth JL, Ahmed SS, et al.
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
American Society of Gene & Cell Therapy Annual
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.
CNS Biodistribution of AAVHSCs and their Gene Therapy Application for Targeting Metachromatic Leukodystrophy (MLD)
Seabrook TA, Patel K, St-Martin T, et al.
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.
Biodistribution of AAVHSCs in the Central Nervous System of Non-Human Primates
Gringas J, Oliveri K, St-Martin T, et al.
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.
Stem cell-derived clade F AAVs mediate high-efficiency homologous recombination-based genome editing
Smith LJ, Wright J, Clark G, et al.
Sustained Correction of Phenylketonuria by a Single Dose of AAVHSC Packaging a Human Phenylalanine Hydroxylase Transgene
Ellsworth JL, Ahmed S, Francone O, et al.
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.
Transduction of Photoreceptor and Pigmented Epithelial Cells Following a Single Subretinal Injection of AAVHSC17 in Minipigs
Ellsworth J, Rubin H, Seymour A, et al.
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.
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.
Sustained Correction of Phenylketonuria by a Single Dose of AAVHSC Packaging a Human Phenylalanine Hydroxylase Transgene
Ahmed S, Ellsworth JL, Francone O, et al.
Transduction of Photoreceptor and Pigmented Epithelial Cells Following a Single Subretinal Injection of AAVHSC17 in Minipigs
Ellsworth JL, Rubin H, Seymour A.
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
Widespread transduction of the central nervous system following systemic delivery of AAVHSC17 in non-human primates
Ellsworth JL, Smith LJ, Rubin H, et al.
Evaluation of on-target and off-target precision of AAVHSC-mediated genome editing
Wright JB, Dollive S, St. Martin T, et al.
Prevalence of neutralizing antibodies targeting two novel clade F AAV in human sera
Ellsworth JL, Hillard R, Seymour A, et al.
Gene transfer properties and structural modeling of human stem cell-derived AAV
Smith LJ, Ul-Hasan T, Carvaines SK, et al.