[Federal Register Volume 60, Number 33 (Friday, February 17, 1995)]
[Notices]
[Pages 9339-9340]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 95-3991]



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DEPARTMENT OF HEALTH AND HUMAN SERVICES
National Institutes of Health


Technology Assessment Conference on Gaucher Disease: Current 
Issues in Diagnosis and Treatment

    Notice is hereby given of the NIH Technology Assessment Conference 
on ``Gaucher Disease: Current Issues in Diagnosis and Treatment,'' 
which will be held February 27-March 1, 1995, in the Masur Auditorium 
of the National Institutes of Health, 9000 Rockville Pike, Bethesda, 
Maryland 20892. The conference begins at 8:30 a.m. on February 27 and 
28 and at 9 a.m. on March 1.
    Gaucher disease, the inherited deficiency of the enzyme 
glucocerebrosidase, is the most common lysosomal storage disease and 
the most frequently inherited disorder in the Ashkenazic Jewish 
population. In the past decade there has been much progress both in our 
understanding of the molecular biology of the disease and the ability 
to treat Gaucher patients. However, many issues regarding diagnosis, 
population screening, and therapy for Gaucher patients do not have 
clear consensus. Gaucher disease is characterized by a remarkable 
degree of clinical heterogeneity, ranging from severely affected 
infants to totally asymptomatic adults. Patients with Gaucher disease 
have been classified into three major types on the basis of clinical 
signs and symptoms: Type 1--non-neuropathic; type 2--acute neuropathic; 
and type 3--subacute neuropathic.
    All types of Gaucher disease result from the deficiency of the same 
enzyme, glucocerebrosidase, and the diagnosis can be made by 
measurement of enzyme activity obtained from a tube of blood. The most 
striking difference between the types is the presence of neurologic 
manifestations and the rate of progression. Even within the different 
types there is not a unique clinical presentation. Some patients with 
type 1 Gaucher disease, which is by far the most common type, may 
display anemia, low platelets, massively enlarged livers and spleens, 
and extensive skeletal disease, while others have no symptoms and have 
been recognized only during screening or evaluation for other diseases.
    The gene for glucocerebrosidase on chromosome 1q21 has been 
characterized and sequenced. Multiple mutations have been identified in 
the glucocerebrosidase gene in patients' DNA, several of which are 
encountered frequently. While some patients with similar clinical 
courses share the same genotype, there are other examples where 
patients with the same DNA mutations have very different clinical 
manifestations. It is still not clear to what extent a person's 
phenotype or prognosis can be accurately predicted on the basis of 
current DNA mutation analysis. Furthermore, while the availability of 
molecular techniques has made possible early prenatal diagnosis, 
heterozygote detection and population screening for Gaucher disease, 
the advisability and usefulness of these techniques remains unsolved.
    Gaucher disease has been traditionally managed by supportive 
therapy including total and partial splenectomy, transfusions, and 
[[Page 9340]] orthopedic procedures. Bone marrow transplantation has 
also been successfully performed. More recently enzyme replacement 
therapy has become available using a mannose terminated form human 
glucocerebrosidase. This therapy, often costing $100,000 to $300,000 
per adult patient annually, has effectively improved biochemical and 
hematologic manifestations of this disorder in many patients and has 
reversed hepatosplenomegaly. The optimal dosing for this preparation is 
still under investigation. Also, other novel strategies for enzyme 
therapy and gene therapy for Gaucher disease are being actively 
pursued.
    The purpose of this Technology Assessment Conference is to evaluate 
current concepts concerning diagnosis, genetic counseling, and 
management of Gaucher disease. The conference will bring together 
epidemiologists, geneticists, pediatricians, neurologists, 
obstetricians, orthopedists, hematologists, genetic counselors, 
clinical pathologists, others involved in health care delivery, as well 
as representatives of the public to review available data and make 
recommendations regarding population screening, genetic counseling, and 
current patient management as well as for future research.
    After 1-\1/2\ days of presentations and audience discussion, an 
independent, non-Federal panel will weigh the scientific evidence and 
write a draft statement that it will present to the audience on the 
third day. The statement will address the following key questions:
    What is the natural history of Gaucher disease and what is the 
appropriate technology to assess the severity and to predict the 
progression of this disorder?
    What are the roles of current molecular and enzymatic assays for 
ascertaining affected individuals and carriers in various populations?
    What are the indications for treatment of patients with Gaucher 
disease and what are the appropriate modes of therapy?
    What are the goals for and consequences of treatment and how can 
the therapeutic interventions be assessed?
    Under what circumstances could genotype/phenotype correlations be 
used for patient care and counseling?
    What are the appropriate directions for future research?
    The primary sponsors for this conference are the National Institute 
of Mental Health and the NIH Office of Medical Applications of 
Research. The conference is cosponsored by the National Institute of 
Child Health and Human Development, the National Institute of Diabetes 
and Digestive and Kidney Diseases, the National Institute of 
Neurological Disorders and Stroke, the National Center for Research 
Resources, and the National Center for Human Genome Research.
    Advance information on the conference program and conference 
registration materials may be obtained from: Debra DeBose, Technical 
Resources International, Inc., 3202 Tower Oaks Blvd., Suite 200, 
Rockville, Maryland 20852, (301) 770-3153.
    The technology assessment statement will be submitted for 
publication in professional journals and other publications. In 
addition, the statement will be available beginning March 1, 1995 from 
the NIH Consensus Program Information Service, P.O. Box 2577, 
Kensington, Maryland 20891, phone 1-800-NIH-OMAR (1-800-644-6627).

    Dated: February 10, 1995.
Ruth L. Kirschstein,
Deputy Director, NIH.
[FR Doc. 95-3991 Filed 2-16-95; 8:45 am]
BILLING CODE 4140-01-M