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The transformation of drug development for the 21st century: Time for a change

Molecular genetics and metabolism, 2022-09, Vol.137 (1-2), p.107-113

Kakkis, Emil D.

2022

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The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.183-183, Article 183

2021

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Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.141-141, Article 141

2021

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Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I

Pediatrics (Evanston), 2009-01, Vol.123 (1), p.229-240

2009

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The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases

Orphanet journal of rare diseases, 2011-07, Vol.6 (1), p.49-49

2011

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First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.203-208

2015

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Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)

Pediatrics (Evanston), 2007-07, Vol.120 (1), p.e37-e46

2007

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Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

Neuromuscular disorders : NMD, 2018-02, Vol.28 (2), p.158-168

2018

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Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I

The Journal of clinical investigation, 2008-08, Vol.118 (8), p.2868-2876

2008

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Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints

Orphanet journal of rare diseases, 2015-02, Vol.10 (1), p.16-16

2015

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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

The Journal of pediatrics, 2004-05, Vol.144 (5), p.581-588

2004

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A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years

Molecular genetics and metabolism, 2007-02, Vol.90 (2), p.171-180

2007

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Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

PloS one, 2017-03, Vol.12 (3), p.e0173261-e0173261

2017

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Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid

Molecular genetics and metabolism, 2007-05, Vol.91 (1), p.61-68

2007

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Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study

The Journal of pediatrics, 2006-04, Vol.148 (4), p.533-539.e6

2006

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Overcoming the Blood-Brain Barrier with High-Dose Enzyme Replacement Therapy in Murine Mucopolysaccharidosis VII

Proceedings of the National Academy of Sciences - PNAS, 2005-10, Vol.102 (41), p.14777-14782

2005

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Enzyme-Replacement Therapy in Mucopolysaccharidosis I

The New England journal of medicine, 2001-01, Vol.344 (3), p.182-188

2001

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Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses

Molecular genetics and metabolism, 2020-05, Vol.130 (1), p.7-15

2020

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Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice

PloS one, 2010-08, Vol.5 (8), p.e12194

2010

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Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept

Molecular therapy. Methods & clinical development, 2021-03, Vol.20, p.191-203

2021

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Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression

Molecular therapy. Methods & clinical development, 2022-03, Vol.24, p.292-305

2022

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Enzyme replacement therapy for the mucopolysaccharide storage disorders

Expert opinion on investigational drugs, 2002-05, Vol.11 (5), p.675-685

Kakkis, Emil

2002

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Arterial pathology in canine mucopolysaccharidosis-I and response to therapy

Laboratory investigation, 2011-05, Vol.91 (5), p.665-674

2011

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Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I

The Lancet (British edition), 2003-05, Vol.361 (9369), p.1608-1613

2003

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The transformation of drug development for the 21st century: Time for a change

The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I

The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I

Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study

Overcoming the Blood-Brain Barrier with High-Dose Enzyme Replacement Therapy in Murine Mucopolysaccharidosis VII

Enzyme-Replacement Therapy in Mucopolysaccharidosis I

Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice

Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept

Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression

Enzyme replacement therapy for the mucopolysaccharide storage disorders

Arterial pathology in canine mucopolysaccharidosis-I and response to therapy

Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I

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