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1

Accessing the accelerated approval pathway for rare disease therapeutics

Kakkis, Emil D, Kowalcyk, Sara, Bronstein, Max G

Journal:

Nature Biotechnology

Année:

2016

Langue:

english

Fichier:

PDF, 336 KB

english, 2016

2

A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease

Harmatz, Paul, Whitley, Chester B., Wang, Raymond Y., Bauer, Mislen, Song, Wenjie, Haller, Christine, Kakkis, Emil

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 307 KB

english, 2018

3

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

Brigitta E Miyamoto, Emil D Kakkis

Journal:

Orphanet Journal of Rare Diseases

Année:

2011

Langue:

english

Fichier:

PDF, 400 KB

english, 2011

4

Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I

Clarke, L. A., Wraith, J. E., Beck, M., Kolodny, E. H., Pastores, G. M., Muenzer, J., Rapoport, D. M., Berger, K. I., Sidman, M., Kakkis, E. D., Cox, G. F.

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 650 KB

english, 2009

5

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

Kakkis, Emil D, O’Donovan, Mary, Cox, Gerald, Hayes, Mark, Goodsaid, Federico, Tandon, PK, Furlong, Pat, Boynton, Susan, Bozic, Mladen, Orfali, May, Thornton, Mark

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 628 KB

english, 2015

6

Burosumab Therapy in Children with X-Linked Hypophosphatemia

Carpenter, Thomas O., Whyte, Michael P., Imel, Erik A., Boot, Annemieke M., Högler, Wolfgang, Linglart, Agnès, Padidela, Raja, van’t Hoff, William, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, Kakkis,

Journal:

New England Journal of Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 320 KB

english, 2018

7

Acute lymphocytic leukemia in acrodermatitis enteropathica

Henry J. Lin, Emil D. Kakkis, Nora C. J. Sun, Steven Lim, Arnold W. Gurevitch

Journal:

American Journal of Hematology

Année:

1994

Langue:

english

Fichier:

PDF, 267 KB

english, 1994

8

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases

Henry J. Lin, Emil D. Kakkis, Donna J. Eteson, Ralph S. Lachman

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 546 KB

english, 1993

9

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

Maria-Veronica Munoz-Rojas, Taiane Vieira, Ronaldo Costa, Simone Fagondes, Angela John, Laura Bannach Jardim, Leonardo M. Vedolin, Marcia Raymundo, Patricia I. Dickson, Emil Kakkis, Roberto Giugliani

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 123 KB

english, 2008

10

Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy

G. Yogalingam, X.-H. Guo, V.J. Muller, D.A. Brooks, P.R. Clements, E.D. Kakkis, J.J. Hopwood

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 259 KB

english, 2004

11

A Contura catheter offers dosimetric advantages over a MammoSite catheter that increase the applicability of accelerated partial breast irradiation

Richard B. Wilder, Lisa D. Curcio, Rajesh K. Khanijou, Martin E. Eisner, Jane L. Kakkis, Lucy Chittenden, Jeffrey Agustin, Jessica Lizarde, Albert V. Mesa, John Ravera, Kenneth M. Tokita

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 499 KB

english, 2009

12

A Contura Catheter Offers Dosimetric Advantages over a MammoSite Catheter that Increase the Applicability of Accelerated Partial Breast Irradiation

A. Mesa, L.D. Curcio, R.K. Khanijou, M.E. Eisner, J.L. Kakkis, L. Chittenden, J. Agustin, J. Lizarde, K.M. Tokita, R.B. Wilder

Journal:

International Journal of Radiation Oncology*Biology*Physics

Année:

2009

Langue:

english

Fichier:

PDF, 53 KB

english, 2009

13

Results With Accelerated Partial Breast Irradiation in Terms of Estrogen Receptor, Progesterone Receptor, and Human Growth Factor Receptor 2 Status

Richard B. Wilder, Lisa D. Curcio, Rajesh K. Khanijou, Martin E. Eisner, Jane L. Kakkis, Lucy Chittenden, Jeffrey Agustin, Jessica Lizarde, Albert V. Mesa, Jorge C. Macedo, John Ravera, Kenneth M. Tok

Journal:

International Journal of Radiation Oncology*Biology*Physics

Année:

2010

Langue:

english

Fichier:

PDF, 224 KB

english, 2010

14

Nitric oxide: The Jekyll and Hyde of gut inflammation

M. J. S. Miller, S. Chotinaruemol, H. Sadowska-Krowicka, J. L. Kakkis, U. K. Munshi, X -J. Zhang, D. A. Clark

Journal:

Inflammation Research

Année:

1993

Langue:

english

Fichier:

PDF, 160 KB

english, 1993

15

Preliminary results with accelerated partial breast irradiation in high-risk breast cancer patients

Richard B. Wilder, Lisa D. Curcio, Rajesh K. Khanijou, Martin E. Eisner, Jane L. Kakkis, Lucy Chittenden, Jeffrey Agustin, Jessica Lizarde, Albert V. Mesa, Jorge C. Macedo, John Ravera, Kenneth M. Tok

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 187 KB

english, 2010

16

Preliminary Results in 173 Breast Cancer Patients Treated with Post-Lumpectomy MammoSite Single-Lumen Brachytherapy or Multi-Catheter Brachytherapy

Richard B. Wilder, Lisa D. Curcio, Rajesh K. Khanijou, Martin E. Eisner, Jane L. Kakkis, Lucy Chittenden, Jeffrey Agustin, Jessica Lizarde, Albert V. Mesa, Jorge C. Macedo, John Ravera, Kenneth M. Tok

Journal:

The Breast Journal

Année:

2010

Langue:

english

Fichier:

PDF, 128 KB

english, 2010

17

A transcriptional repressor of c-myc

Kakkis, Emil, Riggs, Karen J., Gillespie, William, Calame, Kathryn

Journal:

Année:

1989

Fichier:

PDF, 553 KB

1989

18

Arterial pathology in canine mucopolysaccharidosis-I and response to therapy

Lyons, Jeremiah A, Dickson, Patricia I, Wall, Jonathan S, Passage, Merry B, Ellinwood, N Matthew, Kakkis, Emil D, McEntee, Michael F

Journal:

Laboratory Investigation

Année:

2011

Langue:

english

Fichier:

PDF, 631 KB

english, 2011

19

Retrovirus-mediated transfer of the human α- L-iduronidase cDNA into human hematopoietic progenitor cells leads to correction in trans of Hurler fibroblasts

Huang, M-M, Wong, A, Yu, X, Kakkis, E, Kohn, D B

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 260 KB

english, 1997

20

Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice

Watson, G, Bastacky, J, Belichenko, P, Buddhikot, M, Jungles, S, Vellard, M, Mobley, W C, Kakkis, E

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 372 KB

english, 2006

21

Long-Term and High-Dose Trials of Enzyme Replacement Therapy in the Canine Model of Mucopolysaccharidosis I

Emil D. Kakkis, Michael F. McEntee, Artur Schmidtchen, Elizabeth F. Neufeld, Daniel A. Ward, Rebecca E. Gompf, Stephen Kania, Cathy Bedolla, Shu-Lin Chien, Robert M. Shull

Journal:

Biochemical and Molecular Medicine

Année:

1996

Langue:

english

Fichier:

PDF, 2.27 MB

english, 1996

22

Inhibition of calcium-dependent nitric oxide synthase causes ileitis and leukocytosis in guinea pigs

Mark J. S. Miller, Upender K. Munshi, Halina Sadowska-Krowicka, Jane L. Kakkis, Xiao-Jing Zhang, Sandra Eloby-Childress, David A. Clark

Journal:

Digestive Diseases and Sciences

Année:

1994

Langue:

english

Fichier:

PDF, 1009 KB

english, 1994

23

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

Friedrich K. Trefz, Barbara K. Burton, Nicola Longo, Mercedes Martinez-Pardo Casanova, Daniel J. Gruskin, Alex Dorenbaum, Emil D. Kakkis, Eric A. Crombez, Dorothy K. Grange, Paul Harmatz, Mark H. Lips

Journal:

The Journal of Pediatrics

Année:

2009

Langue:

english

Fichier:

PDF, 505 KB

english, 2009

24

Pravastatin Increases Survival and Inhibits Natural Killer Cell Enhancement Factor in Liver Transplanted Rats

Jane L. Kakkis, B. Ke, S. Dawson, M. Maggard, M. Si, F. Kaldas, W. Cai, H. Shau, P. Seu, H. Sauri, R.W. Busuttil, D.K. Imagawa

Journal:

Journal of Surgical Research

Année:

1997

Langue:

english

Fichier:

PDF, 454 KB

english, 1997

25

Enzyme Replacement Therapy in Feline Mucopolysaccharidosis I

E.D. Kakkis, E. Schuchman, X. He, Q. Wan, S. Kania, S. Wiemelt, C.W. Hasson, T. O'Malley, M.A. Weil, G.A. Aguirre, D.E. Brown, M.E. Haskins

Journal:

Molecular Genetics and Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 3.57 MB

english, 2001

26

Overexpression of the Human Lysosomal Enzyme α-L-Iduronidase in Chinese Hamster Ovary Cells

E.D. Kakkis, A. Matynia, A.J. Jonas, E.F. Neufeld

Journal:

Protein Expression and Purification

Année:

1994

Fichier:

PDF, 784 KB

1994

27

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

James E Wraith, Lorne A Clarke, Michael Beck, Edwin H Kolodny, Gregory M Pastores, Joseph Muenzer, David M Rapoport, Kenneth I Berger, Stuart J Swiedler, Emil D Kakkis, Tanja Braakman, Elenie Chadbour

Journal:

The Journal of Pediatrics

Année:

2004

Langue:

english

Fichier:

PDF, 224 KB

english, 2004

28

Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I

E. Kakkis, M. McEntee, C. Vogler, S. Le, B. Levy, P. Belichenko, W. Mobley, P. Dickson, S. Hanson, M. Passage

Journal:

Molecular Genetics and Metabolism

Année:

2004

Langue:

english

Fichier:

PDF, 2.55 MB

english, 2004

29

Penetration, diffusion, and uptake of recombinant human α-l-iduronidase after intraventricular injection into the rat brain

P.V. Belichenko, P.I. Dickson, M. Passage, S. Jungles, W.C. Mobley, E.D. Kakkis

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 671 KB

english, 2005

30

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

Patricia Dickson, Michael McEntee, Carole Vogler, Steven Le, Beth Levy, Maryn Peinovich, Stephen Hanson, Merry Passage, Emil Kakkis

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2007

31

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

Monica Sifuentes, Robin Doroshow, Richard Hoft, Greg Mason, Irwin Walot, Michael Diament, Susan Okazaki, Kenneth Huff, Gerald F. Cox, Stuart J. Swiedler, Emil D. Kakkis

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2007

32

A dose-optimization trial of laronidase (Aldurazyme®) in patients with mucopolysaccharidosis I

Roberto Giugliani, Verónica Muñoz Rojas, Ana Maria Martins, Eugênia R. Valadares, Joe T.R. Clarke, José E.C. Góes, Emil D. Kakkis, Mary Alice Worden, Marisa Sidman, Gerald F. Cox

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 258 KB

english, 2009

33

Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen

Dyane Auclair, John Finnie, Joleen White, Timothy Nielsen, Maria Fuller, Emil Kakkis, Alphonsus Cheng, Charles A. O’Neill, John J. Hopwood

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 631 KB

english, 2010

34

72. Transforming the development of treatments for lysosomal storage disorders

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 41 KB

english, 2010

35

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

Revecca Kakavanos, Chris T Turner, John J Hopwood, Emil D Kakkis, Doug A Brooks

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 269 KB

english, 2003

36

Role of inducible nitric oxide synthase expression and peroxynitrite formation in guinea pig ileitis

Mark J.S. Miller, Jane H. Thompson, Xiao-Jing Zhang, Halina Sadowska-Krowicka, Jane L. Kakkis, Upender K. Munshi, Manuel Sandoval, Janet L. Rossi, Sandra Eloby-Childress, Joseph S. Beckman, Yao Zu Ye,

Journal:

Gastroenterology

Année:

1995

Langue:

english

Fichier:

PDF, 10.34 MB

english, 1995

37

G.P.29 Results from a pilot study of muscle strength and function in adults with Hereditary Inclusion Body Myopathy (HIBM)

Skrinar, A.M., Mayhew, J.E., Maurer, M.L., Kakkis, E.

Journal:

Neuromuscular Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 47 KB

english, 2012

38

S.P.32 The HIBM Patient Monitoring Program (HIBM-PMP): Registry and natural history study to advance research and clinical management in Hereditary Inclusion Body Myopathy (HIBM or GNE Myopathy)

Kakkis, E., Ditton, J., Skrinar, A.M., Ahmed, R.

Journal:

Neuromuscular Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 45 KB

english, 2012

39

T.P.13 A phase 1 safety and pharmacokinetic study of sialic acid-extended release tablets in patients with Hereditary Inclusion Body Myopathy (HIBM or GNE myopathy)

Kakkis, E., Maurer, M., Shah, P., Donikyan, M., Ahmed, R.

Journal:

Neuromuscular Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 46 KB

english, 2012

40

Enzyme-Replacement Therapy in Mucopolysaccharidosis I

Kakkis, Emil D., Muenzer, Joseph, Tiller, George E., Waber, Lewis, Belmont, John, Passage, Merry, Izykowski, Barbara, Phillips, Jeffrey, Doroshow, Robin, Walot, Irv, Hoft, Richard, Yu, Kian Ti, Okazak

Journal:

Boston Medical and Surgical Journal

Année:

2001

Langue:

english

Fichier:

PDF, 121 KB

english, 2001

41

Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs

Passage, M. B., Krieger, A. W., Peinovich, M. C., Lester, T., Le, S. Q., Dickson, P. I., Kakkis, E. D.

Journal:

Journal of Inherited Metabolic Disease

Année:

2009

Langue:

english

Fichier:

PDF, 223 KB

english, 2009

42

P.3.5 Identification of rare variants in GNE and other sialic biosynthetic genes in HIBM2 and sIBM

Harms, M.B., Kakkis, E., Allred, P., Hilliard, J.K., Cooper, P., Florence, J., Baloh, R.H., Pestronk, A., Weihl, C.C.

Journal:

Neuromuscular Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 59 KB

english, 2013

43

Recombinant human β-glucuronidase enzyme replacement therapy for mucopolysaccharidosis type VII: report of the first patient treated

Fox, Joyce E., Kakkis, Emil D., Sly, William S.

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 48 KB

english, 2014

44

P.3.7 A prodrug strategy to increase oral absorption and bioavailability of Sialic acid in an HIBM mouse model

Morris, G., Chan, Y., Grubb, J., Jungles, S., Kakkis, E.

Journal:

Neuromuscular Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 45 KB

english, 2013

45

Azygous vein to right atrium bypass graft in a patient with idiopathic fibrosing mediastinitis and symptomatic superior and inferior vena cava obstructions

Kakkis, Jane L., Sicklick, Jason K., Gomes, Antoinette, Cohen, Benjamin, Quiñones-Baldrich, William J.

Journal:

Journal of Vascular Surgery

Année:

2002

Langue:

english

Fichier:

PDF, 262 KB

english, 2002

46

Neoadjuvant Therapy: The Ultimate Interdisciplinary Challenge

Link, John S., Kakkis, Jane L., Reitherman, Richard, Ibarra, Julio A., Jacobs, Cheryl I.

Journal:

Seminars in Breast Disease

Année:

2006

Langue:

english

Fichier:

PDF, 135 KB

english, 2006

47

A Plasmacytoma-Specific Factor Binds the c-myc Promoter Region

Emil Kakkis and Kathryn Calame

Journal:

Proceedings of the National Academy of Sciences

Année:

1987

Langue:

english

Fichier:

PDF, 1.21 MB

english, 1987

48

Quantitative structure-activity relationships in the inhibition of photosystem II in chloroplasts by phenylureas

Kakkis, Emil, Palmire, Vincent C., Strong, Cynthia D., Bertsch, Walter, Hansch, Corwin, Schirmer, Ulrich

Journal:

Journal of Agricultural and Food Chemistry

Année:

1984

Langue:

english

Fichier:

PDF, 1.56 MB

english, 1984

49

Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human -L-Iduronidase (Laronidase)

Wraith, J. E., Beck, M., Lane, R., van der Ploeg, A., Shapiro, E., Xue, Y., Kakkis, E. D., Guffon, N.

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 408 KB

english, 2007

50

G.O.27

Lau, H., Argov, Z., Caraco, Y., Pestronk, A., Shieh, P., Skrinar, A.M., Mayhew, J., Martinisi, J., Kakkis, E.

Journal:

Neuromuscular Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 50 KB

english, 2014