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Phenylketonuria Scientific Review Conference: state of the science and future research needs.

  • Camp KM Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: campkm@od.nih.gov.
  • Parisi MA Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: parisima@mail.nih.gov.
  • Acosta PB Emory University, Atlanta, GA 30033, USA. Electronic address: pja1933@gmail.com.
  • Berry GT Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: gerard.berry@childrens.harvard.edu.
  • Bilder DA Department of Psychiatry, University of Utah, Salt Lake City, UT 84108, USA. Electronic address: deborah.bilder@hsc.utah.edu.
  • Blau N University Children's Hospital, Heidelberg, Germany; University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@med.uni-heidelberg.de.
  • Bodamer OA University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address: obodamer@med.miami.edu.
  • Brosco JP University of Miami Mailman Center for Child Development, Miami, FL 33101, USA. Electronic address: jbrosco@med.miami.edu.
  • Brown CS National PKU Alliance, USA. Electronic address: christine.brown@npkua.org.
  • Burlina AB University Hospital, 35128 Padova, Italy. Electronic address: alberto.burlina@unipd.it.
  • Burton BK Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA. Electronic address: bburton@luriechildrens.org.
  • Chang CS Agency for Healthcare Research and Quality, Rockville, MD 20850, USA. Electronic address: christine.chang@ahrq.hhs.gov.
  • Coates PM Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: coatesp@od.nih.gov.
  • Cunningham AC Tulane University Medical School, Hayward Genetics Center, New Orleans, LA 70112, USA. Electronic address: acunnin@tulane.edu.
  • Dobrowolski SF University of Pittsburgh, Pittsburgh, PA 15224, USA. Electronic address: dobrowolskis@upmc.edu.
  • Ferguson JH Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: jferg@helix.nih.gov.
  • Franklin TD National PKU Alliance, USA. Electronic address: tom.franklin@npkua.org.
  • Frazier DM University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address: dianne_frazier@med.unc.edu.
  • Grange DK Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA. Electronic address: grange_d@kids.wustl.edu.
  • Greene CL University of Maryland School of Medicine, Baltimore, MD 21201, USA. Electronic address: cgreene@peds.umaryland.edu.
  • Groft SC Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: stephen.groft@nih.gov.
  • Harding CO Oregon Health & Science University, Portland, OR 97239, USA. Electronic address: hardingc@ohsu.edu.
  • Howell RR University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address: rhowell@miami.edu.
  • Huntington KL Oregon Health & Science University, Portland, OR 97239, USA. Electronic address: huntingt@ohsu.edu.
  • Hyatt-Knorr HD Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: henrietta.hyatt-knorr@nih.gov.
  • Jevaji IP Office of Research on Women's Health, National Institutes of Health, Bethesda, MD 20817, USA. Electronic address: indira.jevaji@cms.hhs.gov.
  • Levy HL Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: harvey.levy@childrens.harvard.edu.
  • Lichter-Konecki U George Washington University, Children's National Medical Center, Washington, DC 20010, USA. Electronic address: ulichter@cnmc.org.
  • Lindegren ML Vanderbilt University School of Medicine, Nashville TN 37203, USA. Electronic address: marylou.lindegren@vanderbilt.edu.
  • Lloyd-Puryear MA Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: lloydpuryearma@od.nih.gov.
  • Matalon K University of Houston, Houston, TX 77204, USA. Electronic address: kmatalon@uh.edu.
  • MacDonald A Birmingham Children's Hospital, Birmingham B4 6NH, UK. Electronic address: anita.macdonald@bch.nhs.uk.
  • McPheeters ML Vanderbilt Evidence-based Practice Center, Institute for Medicine and Public Health, Nashville, TN 37203, USA. Electronic address: melissa.mcpheeters@vanderbilt.edu.
  • Mitchell JJ McGill University Health Center, Montreal, Quebec H3H 1P3, Canada. Electronic address: john.mitchell@muhc.mcgill.ca.
  • Mofidi S Maria Fareri Children's Hospital of Westchester Medical Center, Valhalla, NY 10595, USA. Electronic address: shideh_mofidi@nymc.edu.
  • Moseley KD University of Southern California Keck School of Medicine, Los Angeles, CA 90033, USA. Electronic address: kmoseley@usc.edu.
  • Mueller CM Office of Orphan Products Development, U.S. Food and Drug Administration, Silver Spring, MD 20993, USA. Electronic address: christine.mueller@nih.gov.
  • Mulberg AE Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, MD 20993, USA. Electronic address: andrew.mulberg@fda.hhs.gov.
  • Nerurkar LS Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: lnerurkar@gmail.com.
  • Ogata BN University of Washington, Seattle, WA 98195, USA. Electronic address: bogata@uw.edu.
  • Pariser AR Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, MD 20993, USA. Electronic address: anne.pariser@fda.hhs.gov.
  • Prasad S BioMarin Pharmaceutical Inc., San Rafael, CA 94901, USA. Electronic address: sprasad@bmrn.com.
  • Pridjian G Tulane University Medical School, Hayward Genetics Center, New Orleans, LA 70112, USA. Electronic address: pridjian@tulane.edu.
  • Rasmussen SA Centers for Disease Control and Prevention, Atlanta, GA 30333, USA. Electronic address: skr9@cdc.gov.
  • Reddy UM Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: reddyu@mail.nih.gov.
  • Rohr FJ Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: frances.rohr@childrens.harvard.edu.
  • Singh RH Emory University, Atlanta, GA 30033, USA. Electronic address: rsingh@emory.edu.
  • Sirrs SM Vancouver General Hospital, University of British Columbia, Vancouver V5Z 1M9, Canada. Electronic address: sandra.sirrs@vch.ca.
  • Stremer SE PKU & Allied Disorders of Wisconsin, Madison, WI 53705, USA. Electronic address: sstremer@yahoo.com.
  • Tagle DA National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: danilo.tagle@nih.gov.
  • Thompson SM The Children's Hospital at Westmead, Sydney, NSW 2145, Australia. Electronic address: sue.thompson@health.nsw.gov.au.
  • Urv TK Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: urvtiin@mail.nih.gov.
  • Utz JR University of Minnesota, Minneapolis, MN 55455, USA. Electronic address: jutz1@fairview.org.
  • van Spronsen F University of Groningen, University Medical Center of Groningen, Beatrix Children's Hospital, Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.
  • Vockley J University of Pittsburgh, Pittsburgh, PA 15224, USA. Electronic address: vockleyg@upmc.edu.
  • Waisbren SE Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: susan.waisbren@childrens.harvard.edu.
  • Weglicki LS National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: weglickils@mail.nih.gov.
  • White DA Department of Psychology, Washington University, St. Louis, MO 63130, USA. Electronic address: dawhite@wustl.edu.
  • Whitley CB University of Minnesota, Minneapolis, MN 55455, USA. Electronic address: whitley@umn.edu.
  • Wilfond BS Seattle Children's Research Institute, University of Washington School of Medicine, Seattle, WA 98101, USA. Electronic address: benjamin.wilfond@seattlechildrens.org.
  • Yannicelli S Nutricia North America, Rockville, MD 20850, USA. Electronic address: steven.yannicelli@nutricia.com.
  • Young JM The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address: jmichaelyoung@yahoo.com.
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  • 2014-03-27
Published in:
  • Molecular genetics and metabolism. - 2014
Glycomacropeptide
Hyperphenylalaninemia
Large neutral amino acids
Maternal PKU
Phenylketonuria
Sapropterin
Biopterin
Diet Therapy
Disease Management
Evidence-Based Medicine
Female
Humans
Infant, Newborn
National Institutes of Health (U.S.)
Phenylketonurias
Practice Guidelines as Topic
Pregnancy
United States
English New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat some individuals with PKU, and to develop a research agenda. Prior to the 2012 conference, five working groups of experts and public members met over a 1-year period. The working groups addressed the following: long-term outcomes and management across the lifespan; PKU and pregnancy; diet control and management; pharmacologic interventions; and molecular testing, new technologies, and epidemiologic considerations. In a parallel and independent activity, an Evidence-based Practice Center supported by the Agency for Healthcare Research and Quality conducted a systematic review of adjuvant treatments for PKU; its conclusions were presented at the conference. The conference included the findings of the working groups, panel discussions from industry and international perspectives, and presentations on topics such as emerging treatments for PKU, transitioning to adult care, and the U.S. Food and Drug Administration regulatory perspective. Over 85 experts participated in the conference through information gathering and/or as presenters during the conference, and they reached several important conclusions. The most serious neurological impairments in PKU are preventable with current dietary treatment approaches. However, a variety of more subtle physical, cognitive, and behavioral consequences of even well-controlled PKU are now recognized. The best outcomes in maternal PKU occur when blood phenylalanine (Phe) concentrations are maintained between 120 and 360 μmol/L before and during pregnancy. The dietary management treatment goal for individuals with PKU is a blood Phe concentration between 120 and 360 μmol/L. The use of genotype information in the newborn period may yield valuable insights about the severity of the condition for infants diagnosed before maximal Phe levels are achieved. While emerging and established genotype-phenotype correlations may transform our understanding of PKU, establishing correlations with intellectual outcomes is more challenging. Regarding the use of sapropterin in PKU, there are significant gaps in predicting response to treatment; at least half of those with PKU will have either minimal or no response. A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment. New drugs that are safe, efficacious, and impact a larger proportion of individuals with PKU are needed. However, it is imperative that treatment guidelines and the decision processes for determining access to treatments be tied to a solid evidence base with rigorous standards for robust and consistent data collection. The process that preceded the PKU State-of-the-Science Conference, the conference itself, and the identification of a research agenda have facilitated the development of clinical practice guidelines by professional organizations and serve as a model for other inborn errors of metabolism.
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https://sonar.ch/global/documents/142157
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