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Current Issues in Diagnosis and Treatment

NIH Technology Assessment Panel on Gaucher Disease; Edward R. B. McCabe, MD, PhD; Beth A. Fine, MS; Mitchell S. Golbus, MD; Joel B. Greenhouse, PhD; Geraldine L. McGrath; Maria New, MD; William E. O'Brien, PhD; Peter T. Rowley, MD; William S. Sly, MD; M. Anne Spence, PhD; James A. Stockman III, MD; Chapel Hill; Michael Whyte, MD; Wesley Wilson, MD; Barry Wolf, MD, PhD; Johannes M. F. G. Aerts, PhD; John A. Barranger, MD, PhD,; Norman W. Barton, MD, PhD; Ernest Beutler, MD; Roscoe O. Brady, MD; Ian J. Cohen, MD, ChB; Timothy M. Cox, MD; Rabbi Josef Ekstein; Christine M. Eng, MD; Anders Erikson, MD, PhD; Deborah M. Findling, MS; Alan M. Garber, MD, PhD; Edward I. Ginns, MD, PhD; Gregory A. Grabowski, MD; Suvimol C. Hill, MD; E. M. Carla; Hollak, MD; Michael M. Kaback, MD; Robert E. Lee, MD; Henry J. Mankin, MD; Pramod K. Mistry, PhD, MRCP; Richard A. Moscicki, MD; Gary J. Murray, PhD; Marvin Natowicz, MD, PhD; Gregory M. Pastores, MD; M. Clara Sá Miranda, PhD; Ellen Sidransky, MD; John E. Ware, Jr, PhD; Rob Willemsen; Rina Zaizov, MD; Ari Zimran, MD; Ellen Sidransky, MD; John A. Barranger, MD, PhD; Norman W. Barton, MD, PhD; Inese Z. Beitins, MD; Robin Ely Berman, MD; Ernest Beutler, MD; Roscoe O. Brady, MD; Jerry M. Elliott; John H. Ferguson, MD; Edward I. Ginns, MD, PhD; Gregory A. Grabowski, MD; William H. Hall; Edward R. B. McCabe, MD, PhD; Catherine McKeon, PhD; Ralph M. Nitkin, PhD; Sandra L. Schlesinger, MS; Philip H. Sheridan, MD; Marilyn Weeks; Rex W. Cowdry, MD; John H. Ferguson, MD; Duane F. Alexander, MD; Phillip Gorden, MD; Zach W. Hall, PhD; Judith L. Vaitukaitis, MD; Francis S. Collins, MD, PhD; Stephen Groft, PharmD

JAMA. 1996;275(7):548-553.

Abstract
Objective.
—To provide physicians with a responsible assessment of the diagnosis and treatment of Gaucher disease.

Participants.
—A nonfederal, nonadvocate, 14-member panel representing the fields of pediatrics, obstetrics and gynecology, genetics, endocrinology, molecular biology, internal medicine, and biostatistics. In addition, 30 experts in genetics, pediatrics, neurology, obstetrics and gynecology, orthopedics, hematology, genetic counseling, clinical pathology, and epidemiology presented data to the panel and a conference audience of 230 during a 1-day public session. Questions and statements from conference attendees were considered during the open session. Closed deliberations by the panel occurred during the remainder of the second day and the morning of the third.

Evidence.
—The literature was searched through MEDLINE, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience.

Consensus Process.
—The panel, answering predefined questions, developed their conclusions based on the scientific evidence presented in open forum and on the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference.

Conclusions.
—Despite the success of enzyme therapy, treatment is limited by the cost of the agent. This makes it imperative to determine the lowest effective initial and maintenance doses, to define the appropriate clinical indications for treatment, and to establish uniform methods to optimize outcome assessment. The value of treatment for asymptomatic individuals has not been determined. General population screening for affected individuals and for carriers is not appropriate at this time. As a prototype for all rare diseases, the plight of patients with Gaucher disease raises difficult financial and ethical issues, which we as a society must address.

(JAMA. 1996;275:548-553)

Author Affiliations
Technology Assessment Panel; Panel and Conference Chairperson, Professor and Executive Chair, Department of Pediatrics, University of California, Los Angeles, UCLA School of Medicine; Assistant Professor and Genetic Counselor, Department of Obstetrics and Gynecology, Graduate Program in Genetic Counseling, Northwestern University Medical School, Chicago, Ill; Professor, Department of Obstetrics, Gynecology, and Reproductive Science, University of California, San Francisco; Professor, Department of Statistics, Carnegie-Mellon University, Pittsburgh, Pa; Vice President for Consumers, Alliance of Genetic Support Groups, Cystinosis Foundation, Floyd, Va; Professor and Chairman, Chief of Endocrinology, Department of Pediatrics, The New York Hospital— Cornell Medical Center, New York, NY; Professor, Department of Molecular and Human Genetics, Baylor College of; Medicine, Houston, Tex; Professor of Medicine, Pediatrics, and Genetics, Division of Genetics, Department of Medicine, University of Rochester (NY) School of Medicine; Professor and Chairman, Department of Biochemistry and Molecular Biology, St. Louis (Mo) University School of Medicine; Professor, Department of Pediatrics, Division of Human Genetics, University of California, Irvine; President, American Board of Pediatrics, Consultant Professor of Pediatrics, Duke University Medical Center, Durham, NC, Clinical Professor of Pediatrics, University of North Carolina School of Medicine; Professor of Medicine and Pediatrics, Washington University School of Medicine, St. Louis, Mo; Internal Medicine/Hematologist, Western Montana Clinic, Missoula; Professor, Departments of Human Genetics and Pediatrics, Medical College of Virginia/Virginia Commonwealth University, Richmond.; Chairperson, Chief, Unit on Clinical Genetics, Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Md; Professor, Department of Human Genetics, University of Pittsburgh (Pa); Chief, Clinical Investigations Section, Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md; Director, General Clinical Research Centers Program, National Center for Research Resources, National Institutes of Health, Bethesda, Md; President and CEO, Medical Director, National Gaucher Foundation, Rockville, Md; Chairman, Department of Molecular and Experimental Medicine, The Scripps Research; Institute, La Jolla, Calif; Chief, Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md; Program Analyst, Office of Medical Applications of Research, National Institutes of Health, Bethesda, Md; Director, Office of Medical Applications of Research, National Institutes of Health, Bethesda, Md; Chief, Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Md; Director, Division of Human Genetics, Children's Hospital Medical Center, Professor, Departments of Molecular Genetics, Microbiology and Biochemistry, and Pediatrics, University of Cincinnati (Ohio); Director of Communications, Office of Medical Applications of Research, National Institutes of Health, Bethesda, Md; Professor and Executive Chair, Department of Pediatrics, University of California, Los Angeles, UCLA School of Medicine; Director, Metabolic Diseases and Gene Therapy, Division of Endocrinology and Metabolic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Md; Health Scientist Administrator, Mental Retardation and Developmental Disabilities Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md; Genetics Counselor/Coordinator, Interinstitute Medical Genetics Program, National Center for Human Genome Research, National Institutes of Health, Bethesda, Md; Special Assistant to the Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md; Public Affairs Specialist, Office of Scientific Information, National Institute of Mental Health, National Institutes of Health, Rockville, Md. Conference Sponsors: National Institute of Mental Health; Acting Director; NIH Office of Medical Applications of Research,; Director. Conference Cosponsors: National Institute of Child Health and Human Development; Director; National Institute of Neurological Disorders and Stroke; Director; National Center for Research Resources; Director; National Center for Human Genome Research; Director; NIH Office of Rare Disease Research, PharmD, Director.

Footnotes
NIH Technology Assessment Conferences and Workshops are convened to evaluate available scientific information related to a biomedical technology. The resultant NIH Technology Assessment Statements and published reports are intended to advance understanding of the technology or issue in question and to be useful to health professionals and the public. Each statement is an independent report of the panel and is not a policy statement of the National Institutes of Health or the federal government.

Preparation and distribution of this statement is the responsibility of the Office of Medical Applications of Research of the National Institutes of Health. Free copies of this statement as well as all other available NIH Technology Assessment Statements and NIH Consensus Statements may be obtained from the following resources: (1) NIH Consensus Program Information Service, PO Box 2577, Kensington, MD 20891; telephone: (800) NIH-OMAR (644-6627); fax: (301) 816-2494, and (2) NIH Office of Medical Applications of Research, Federal Bldg, Room 618, 7550 Wisconsin Ave MSC 9120, Bethesda, MD 20892-9120 (William H. Hall). Full-text versions of all these statements are also available online through the NIH Information Center Bulletin Board System at (301) 480-5144 or (800) NIH-BBS1, and through the Internet using Gopher (gopher://gopher.nih.gov/Health and Clinical Information), file transfer protocol (ftp://public.nlm.nih.gov/ hstat/nihcdcs), or the World Wide Web (http:// text.nlm.nih.gov/nih/nih.html).

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