Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)

Molecular Genetics and Metabolism - Tập 124 Số 1 - Trang 27-38 - 2018
Janet A. Thomas1, Harvey L. Levy2, Stephen Amato3, Jerry Vockley4, Roberto T. Zori5, David Dimmock6, Cary O. Harding7, Deborah A. Bilder8, Haoling H. Weng9, Joy Olbertz9, Markus Meriläinen9, Joy Jiang9, Kevin Larimore9, Soumi Gupta9, Zhonghua Gu9, Hope Northrup10
1Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA
2Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA
3Pediatric Genetics and Metabolism, University of Kentucky, Lexington, KY 40506, USA
4Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh and Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA
5Genetics and Metabolism, University of Florida, Gainesville, FL 32610, USA
6Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA
7Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA
8Psychiatry, University of Utah, Salt Lake City, UT 84108, USA
9Research and Development, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA
10Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA

Tóm tắt

Từ khóa


Tài liệu tham khảo

Vockley, 2014, For the American College of Medical Genetics Genomics Therapeutics Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guideline, Genet. Med., 16, 188, 10.1038/gim.2013.157

ten Hoedt, 2011, High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial, J. Inherit. Metab. Dis., 34, 165, 10.1007/s10545-010-9253-9

Bilder, 2016, Systematic review and meta-analysis of neuropsychiatric symptoms and executive functioning in adults with phenylketonuria, Dev. Neuropsychol., 41, 245, 10.1080/87565641.2016.1243109

Bik-Multanowski, 2008, Quality of life in noncompliant adults with phenylketonuria after resumption of the diet, J. Inherit. Metab. Dis., 31, S415, 10.1007/s10545-008-0978-7

Kuvan [package insert], 2016

MacDonald, 2010, The reality of dietary compliance in the management of phenylketonuria, J. Inherit. Metab. Dis., 33, 665, 10.1007/s10545-010-9073-y

Walter, 2002, How practical are recommendations for dietary control in phenylketonuria?, Lancet, 360, 55, 10.1016/S0140-6736(02)09334-0

Burton, 2007, The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study, J. Inherit. Metab. Dis., 30, 700, 10.1007/s10545-007-0605-z

Koch, 2002, Phenylketonuria in adulthood: a collaborative study, J. Inherit. Metab. Dis., 25, 333, 10.1023/A:1020158631102

Levy, 2007, Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study, Lancet, 370, 504, 10.1016/S0140-6736(07)61234-3

Trefz, 2009, Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study, J. Pediatr., 154, 700, 10.1016/j.jpeds.2008.11.040

Berry, 2013, Newborn screening 50 years later: access issues faced by adults with PKU, Genet. Med., 15, 591, 10.1038/gim.2013.10

Demirkol, 2011, Follow up of phenylketonuria patients, Mol. Genet. Metab., 104, S31, 10.1016/j.ymgme.2011.08.005

Jurecki, 2017, Adherence to clinic recommendations among patients with phenylketonuria in the United States, Mol. Genet. Metab., 120, 190, 10.1016/j.ymgme.2017.01.001

Brown, 2016, Phenylketonuria (PKU): a problem solved?, Mol. Genet. Metab. Rep., 6, 8, 10.1016/j.ymgmr.2015.12.004

Strisciuglio, 2014, New strategies for the treatment of phenylketonuria (PKU), Meta, 4, 1007

Bell, 2017, Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria, PLoS One, 12, 10.1371/journal.pone.0173269

Longo, 2014, Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial, Lancet, 384, 37, 10.1016/S0140-6736(13)61841-3

Sarkissian, 1999, A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase, Proc. Natl. Acad. Sci. U. S. A., 96, 2339, 10.1073/pnas.96.5.2339

Thomas, 2015

Zori, 2017

Zori, 2015

Harding, 2018, Pegvaliase for the treatment of phenylketonuria: a pivotal, double-blind randomized discontinuation Phase 3 clinical trial, Mol. Genet. Metab., 10.1016/j.ymgme.2018.03.003

Bacci, 2016, An adaptation of the profile of mood states for use in adults with phenylketonuria, J. Inborn Errors Metab. Screen., 4, 1, 10.1177/2326409816669373

Wyrwich, 2015, Evaluation of neuropsychiatric function in phenylketonuria: psychometric properties of the ADHD rating scale-IV and adult ADHD self-report scale inattention subscale in phenylketonuria, Value Health, 18, 404, 10.1016/j.jval.2015.01.008

Wyrwich, 2016, Content validity of the ADHD rating scale (ADHD RS-IV) and adult ADHD self-report scale (ASRS) in phenylketonuria, J. Inborn Errors Metab. Screen., 4, 1, 10.1177/2326409816639316

Burton, 2015, A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria, Mol. Genet. Metab., 114, 415, 10.1016/j.ymgme.2014.11.011

Medical Dictionary for Regulatory Activities (MedDRA). Version 18.0. https://www.meddra.org/. Accessed December 13, 2017.

Sampson, 2006, Second symposium on the definition and management of anaphylaxis: summary report–Second National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network symposium, J. Allergy Clin. Immunol., 117, 391, 10.1016/j.jaci.2005.12.1303

Brown, 2004, Clinical features and severity grading of anaphylaxis, J. Allergy Clin. Immunol., 114, 371, 10.1016/j.jaci.2004.04.029

National Cancer Institute, National Institutes of Health, Department of health and human services, 2010

Palermo, 2017, Cognitive outcomes in early-treated adults with phenylketonuria (PKU): a comprehensive picture across domains, Neuropsychology, 31, 255, 10.1037/neu0000337

Romani, 2017, The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: effects across tasks and developmental stages, Neuropsychology, 31, 242, 10.1037/neu0000336

Bosch, 2015, Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries, Orphanet J. Rare Dis., 10, 10.1186/s13023-015-0294-x

Chaplin, 2010, Overview of the immune response, J. Allergy Clin. Immunol., 125, S3, 10.1016/j.jaci.2009.12.980

Krishna, 2016, Immunogenicity to biotherapeutics - the role of anti-drug immune complexes, Front. Immunol., 7, 10.3389/fimmu.2016.00021

Dunkelberger, 2010, Complement and its role in innate and adaptive immune responses, Cell Res., 20, 34, 10.1038/cr.2009.139

Eisen, 2014, Affinity enhancement of antibodies: how low-affinity antibodies produced early in immune responses are followed by high-affinity antibodies later and in memory B-cell responses, Cancer Immunol. Res., 2, 381, 10.1158/2326-6066.CIR-14-0029

Verhoef, 2014, Potential induction of anti-PEG antibodies and complement activation toward PEGylated therapeutics, Drug Discov. Today, 19, 1945, 10.1016/j.drudis.2014.08.015

Thomas, 2017, 5, 1

Thông tin
Thông tin xuất bản

Molecular Genetics and Metabolism

Tập 124 Số 1

27-38

Thông tin tác giả