Search Results - "Kakkis, Emil D."

The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases by Tandon, P K, Kakkis, Emil D

“…In traditional clinical trial design, efficacy is typically assessed using a single primary endpoint in a randomized controlled trial to detect an expected…”
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Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I by Clarke, Lorne A, Wraith, J. Edmond, Beck, Michael, Kolodny, Edwin H, Pastores, Gregory M, Muenzer, Joseph, Rapoport, David M, Berger, Kenneth I, Sidman, Marisa, Kakkis, Emil D, Cox, Gerald F

“…Our goal was to evaluate the long-term safety and efficacy of recombinant human alpha-l-iduronidase (laronidase) in patients with mucopolysaccharidosis I. All…”
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Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study by Trefz, Friedrich K., MD, Burton, Barbara K., MD, Longo, Nicola, MD, PhD, Casanova, Mercedes Martinez-Pardo, MD, Gruskin, Daniel J., MD, Dorenbaum, Alex, MD, Kakkis, Emil D., MD, PhD, Crombez, Eric A., MD, Grange, Dorothy K., MD, Harmatz, Paul, MD, Lipson, Mark H., MD, Milanowski, Andrzej, MD, PhD, Randolph, Linda Marie, MD, Vockley, Jerry, MD, PhD, Whitley, Chester B., MD, PhD, Wolff, Jon A., MD, Bebchuk, Judith, ScD, Christ-Schmidt, Heidi, MSE, Hennermann, Julia B., MD

“…Objective To evaluate the ability of sapropterin dihydrochloride (pharmaceutical preparation of tetrahydrobiopterin) to increase phenylalanine (Phe) tolerance…”
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The transformation of drug development for the 21st century: Time for a change by Kakkis, Emil D.

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The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases by Miyamoto, Brigitta E, Kakkis, Emil D

“…Over 95% of rare diseases lack treatments despite many successful treatment studies in animal models. To improve access to treatments, the Accelerated Approval…”
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Arterial pathology in canine mucopolysaccharidosis-I and response to therapy by Lyons, Jeremiah A, Dickson, Patricia I, Wall, Jonathan S, Passage, Merry B, Ellinwood, N Matthew, Kakkis, Emil D, McEntee, Michael F

“…Mucopolysaccharidosis-I (MPS-I) is an inherited deficiency of α-L-iduronidase (IdU) that causes lysosomal accumulation of glycosaminoglycans (GAG) in a variety…”
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First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient by Fox, Joyce E., Volpe, Linda, Bullaro, Josephine, Kakkis, Emil D., Sly, William S.

“…Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is a very rare lysosomal storage disease caused by a deficiency of the enzyme β-glucuronidase (GUS),…”
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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) by Wraith, J Edmond, Beck, Michael, Lane, Roderick, van der Ploeg, Ans, Shapiro, Elsa, Xue, Yong, Kakkis, Emil D, Guffon, Nathalie

“…Our objective was to evaluate the safety, pharmacokinetics, and efficacy of laronidase in young, severely affected children with mucopolysaccharidosis I. This…”
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Accessing the accelerated approval pathway for rare disease therapeutics by Kakkis, Emil D, Kowalcyk, Sara, Bronstein, Max G

“…Improvements must be made to the qualification process for biomarkers as primary endpoints in pivotal clinical studies of treatments for the rarest of diseases…”
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Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I by Dickson, Patricia, Peinovich, Maryn, McEntee, Michael, Lester, Thomas, Le, Steven, Krieger, Aimee, Manuel, Hayden, Jabagat, Catherine, Passage, Merry, Kakkis, Emil D

“…Mucopolysaccharidoses (MPSs) are lysosomal storage diseases caused by a deficit in the enzymes needed for glycosaminoglycan (GAG) degradation. Enzyme…”
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Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints by Kakkis, Emil D, O'Donovan, Mary, Cox, Gerald, Hayes, Mark, Goodsaid, Federico, Tandon, P K, Furlong, Pat, Boynton, Susan, Bozic, Mladen, Orfali, May, Thornton, Mark

“…For rare serious and life-threatening disorders, there is a tremendous challenge of transforming scientific discoveries into new drug treatments. This…”
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A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years by Sifuentes, Monica, Doroshow, Robin, Hoft, Richard, Mason, Greg, Walot, Irwin, Diament, Michael, Okazaki, Susan, Huff, Kenneth, Cox, Gerald F., Swiedler, Stuart J., Kakkis, Emil D.

“…Recombinant human α- l-iduronidase (Aldurazyme ®, laronidase) was approved as an enzyme replacement therapy for patients with the lysosomal storage disorder,…”
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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) by Wraith, James E, Clarke, Lorne A, Beck, Michael, Kolodny, Edwin H, Pastores, Gregory M, Muenzer, Joseph, Rapoport, David M, Berger, Kenneth I, Swiedler, Stuart J, Kakkis, Emil D, Braakman, Tanja, Chadbourne, Elenie, Walton-Bowen, Karen, Cox, Gerald F

“…To confirm the efficacy and safety of recombinant human α-L-iduronidase (laronidase) in patients with mucopolysaccharidosis I (MPS I). This was a randomized,…”
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Patients as key partners in rare disease drug development by Bronstein, Max G., Kakkis, Emil D.

“…Rare disease drug development could benefit substantially from increased patient engagement and input to enhance understanding of the key aspects of disease…”
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Enzyme-Replacement Therapy in Mucopolysaccharidosis I by 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, Okazaki, Susie, Lewis, Dave, Lachman, Ralph, Thompson, Jerry N, Neufeld, Elizabeth F

“…Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of α-L-iduronidase, an enzyme that cleaves the terminal α-l-idu-ronic acid…”
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A dose-optimization trial of laronidase (Aldurazyme ®) in patients with mucopolysaccharidosis I by Giugliani, Roberto, Rojas, Verónica Muñoz, Martins, Ana Maria, Valadares, Eugênia R., Clarke, Joe T.R., Góes, José E.C., Kakkis, Emil D., Worden, Mary Alice, Sidman, Marisa, Cox, Gerald F.

“…Recombinant human α- l-iduronidase (Aldurazyme ®, laronidase) is approved as an enzyme replacement therapy to treat the lysosomal storage disorder,…”
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Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I by Kakavanos, Revecca, Turner, Chris T, Hopwood, John J, Kakkis, Emil D, Brooks, Doug A

“…Enzyme-replacement therapy has been assessed as a treatment for patients who have mucopolysaccharidosis I (α-L-iduronidase deficiency). We aimed to investigate…”
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Hemodynamic changes after protamine administration: Association with mortality after coronary artery bypass surgery by WELSBY, Ian J, NEWMAN, Mark F, PHILLIPS-BUTE, Barbara, MESSIER, Robert H, KAKKIS, Emil D, STAFFORD-SMITH, Mark

“…Protamine sulfate is standard therapy to reverse heparin anticoagulation. Hemodynamic responses to protamine are common, ranging from minor perturbations to…”
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Enzyme replacement therapy for the mucopolysaccharide storage disorders by Kakkis, Emil D

“…The mucopolysaccharide storage disorders are a group of lysosomal storage disorders associated with deficiencies of lysosomal enzymes required for the normal…”
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Enzyme replacement in a canine model of Hurler syndrome by Shull, R.M. (University of Tennessee, Knoxville, TN.), Kakkis, E.D, McEntee, M.F, Kania, S.A, Jonas, A.J, Neufeld, E.F

“…The Hurler syndrome (alpha-L-iduronidase deficiency disease) is a severe lysosomal storage disorder that is potentially amenable to enzyme-replacement therapy…”
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