FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study

(2019) Tomáš Sláma et al.   JOURNAL OF INHERITED METABOLIC DISEASE

An update on gene therapy for lysosomal storage disorders

(2019) Murtaza S. Nagree et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Scaffolds for Sustained Release of Ambroxol Hydrochloride, a Pharmacological Chaperone That Increases the Activity of Misfolded β-Glucocerebrosidase

(2019) Hamidreza Enshaei et al.   MACROMOLECULAR BIOSCIENCE

Odiparcil is a promising substrate reduction therapy in MPS VI murine model

(2018) Eugeni V. Entchev et al.   MOLECULAR GENETICS AND METABOLISM

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease

(2018) Dwight D. Koeberl et al.   MOLECULAR THERAPY

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

(2017) Matthias Zielonka et al.   GENETICS IN MEDICINE

A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features

(2017) Matthias Zielonka et al.   GENETICS IN MEDICINE

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome

(2017) Raphael Schiffmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzyme replacement therapy and beyond—in memoriam Roscoe O. Brady, M.D. (1923–2016)

(2017) Markus Ries   JOURNAL OF INHERITED METABOLIC DISEASE

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

(2017) Daniel S Ory et al.   LANCET

Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders

(2017) Kyeongsoon Kim et al.   Orphanet Journal of Rare Diseases

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ten Years after the International Committee of Medical Journal Editors’ Clinical Trial Registration Initiative, One Quarter of Phase 3 Pediatric Epilepsy Clinical Trials Still Remain Unpublished: A Cross Sectional Analysis

(2016) Anette Lampert et al.   PLoS One

Endoplasmic Reticulum-Targeted Subunit Toxins Provide a New Approach to Rescue Misfolded Mutant Proteins and Revert Cell Models of Genetic Diseases

(2016) Humaira Adnan et al.   PLoS One

Viral Vectors for Gene Therapy: Translational and Clinical Outlook

(2015) Melissa A. Kotterman et al.   Annual Review of Biomedical Engineering

Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study

(2015) Etty Osher et al.   Orphanet Journal of Rare Diseases

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act

(2015) Konstantin Mechler et al.   Orphanet Journal of Rare Diseases

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

(2014) Giancarlo Parenti et al.   MOLECULAR THERAPY

Chimeric Antigen Receptor T Cells for Sustained Remissions in Leukemia

(2014) Shannon L. Maude et al.   NEW ENGLAND JOURNAL OF MEDICINE

The new frontier of genome engineering with CRISPR-Cas9

(2014) J. A. Doudna et al.   SCIENCE

Pentosan Polysulfate: A Novel Therapy for the Mucopolysaccharidoses

(2013) Edward H. Schuchman et al.   PLoS One

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

FLASH assembly of TALENs for high-throughput genome editing

(2012) Deepak Reyon et al.   NATURE BIOTECHNOLOGY

TALENs: a widely applicable technology for targeted genome editing

(2012) J. Keith Joung et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia

(2010) Marina Cavazzana-Calvo et al.   NATURE

TAL nucleases (TALNs): hybrid proteins composed of TAL effectors and FokI DNA-cleavage domain

(2010) Ting Li et al.   NUCLEIC ACIDS RESEARCH

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

(2009) Alessandro Aiuti et al.   NEW ENGLAND JOURNAL OF MEDICINE