Original Article
Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease
N Engl J Med 1991; 324:1464-1470May 23, 1991
- Abstract
- Abstract
Background and Methods.
Gaucher's disease, the most prevalent of the sphingolipid storage disorders, is caused by a deficiency of the enzyme glucocerebrosidase (glucosylceramidase). Enzyme replacement was proposed as a therapeutic strategy for this disorder in 1966. To assess the clinical effectiveness of this approach, we infused macrophage-targeted human placental glucocerebrosidase (60 IU per kilogram of body weight every 2 weeks for 9 to 12 months) into 12 patients with type 1 Gaucher's disease who had intact spleens. The frequency of infusions was increased to once a week in two patients (children) during part of the trial because they had clinically aggressive disease.
Results.
The hemoglobin concentration increased in all 12 patients, and the platelet count in 7. Serum acid phosphatase activity decreased in 10 patients during the trial, and the plasma glucocerebroside level in 9. Splenic volume decreased in all patients after six months of treatment, and hepatic volume in five. Early signs of skeletal improvements were seen in three patients. The enzyme infusions were well tolerated, and no antibody to the exogenous enzyme developed.
Conclusions.
Intravenous administration of macrophage-targeted glucocerebrosidase produces objective clinical improvement in patients with type 1 Gaucher's disease. The hematologic and visceral responses to enzyme replacement develop more rapidly than the skeletal response. (N Engl J Med 1991; 324:1464–70.)
Media in This Article
Figure 1
Effect of Macrophage-Targeted Glucocerebrosidase on the Hemoglobin Concentration in Patient 12.Figure 2
Effect of Glucocerebrosidase on the Platelet Count in Patient 12.Article Activity
- Article
GAUCHER'S disease is the most prevalent lysosomal storage disorder. It is caused by an insufficiency of glucocerebrosidase (glucosylceramidase) activity1 , 2 with secondary accumulation of glucocerebroside within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of the bone marrow with lipid-laden macrophages. Symptomatic anemia, coagulation abnormalities, visceral enlargement, and structural skeletal changes occur at some point during the course of the illness in most patients. Progressive neurologic deterioration develops in a minority.3 , 4
Enzyme replacement was proposed as a therapeutic strategy for Gaucher's disease in 1966.5 It was demonstrated in 1974 that single intravenous infusions of purified placental glucocerebrosidase markedly reduced hepatic and blood glucocerebroside levels.6 Extension of these initial studies required the development of a large-scale procedure for purifying the enzyme.7 However, trials of replacement therapy with the enzyme prepared according to the new method gave inconsistent results,8 presumably because most of the enzyme injected was taken up by hepatocytes.9 Since glucocerebroside does not accumulate in hepatocytes in patients with Gaucher's disease,10 it was necessary to target the exogenous enzyme to macrophages, in which the lipid is stored. Several targeting strategies11 12 13 that took advantage of the mannose lectin on the macrophage plasma membrane14 were examined. Of these, sequential deglycosylation of the oligosaccharide chains of the native enzyme was the most effective and permitted efficient delivery of glucocerebrosidase to the lysosomes of macrophages.15 , 16 Objective clinical responses were observed in a child with type 1 Gaucher's disease treated with this substance in a pilot study.17 We report here the clinical effectiveness of macrophage-targeted human placental glucocerebrosidase as a therapeutic agent in 12 patients with nonneuronopathic Gaucher's disease.
Methods
Patients
Twelve patients with nonneuronopathic type 1 Gaucher's disease were selected for participation in the trial from among patients referred to the Developmental and Metabolic Neurology Branch of the National Institute of Neurological Disorders and Stroke. The diagnosis was confirmed by assaying glucocerebrosidase activity in extracts of cultured skin fibroblasts. Patients were required to be at least six years old and to have an intact spleen; they could be of either sex. The hemoglobin level at the time of entry into the study had to be less than 110 g per liter. All participants were serologically nonreactive for hepatitis B surface antigen and human immunodeficiency virus (HIV) and had no evidence of intercurrent cardiopulmonary, renal, infectious, or neoplastic disease. A complete series of vaccinations against poliovirus was required of all participants, as was a negative pregnancy test of all female patients of childbearing age.
Approval of the protocol was granted by the institutional review board before the study began. Written informed consent was obtained from each participant after the nature of the study and its risks and potential benefits had been fully explained.
Study Protocol
Before the treatment protocol was implemented, all patients underwent a detailed evaluation of the extent of their disease at the Clinical Center of the National Institutes of Health. A carefully recorded history was obtained, and physical examination and screening laboratory studies were performed. The latter included a complete blood count, serologic biochemical determinations including measurement of total acid phosphatase activity and plasma glucocerebroside, serologic testing for hepatitis B and HIV, a coagulation profile, urinalysis, chest radiography, electrocardiography, and radiography of the long bones. Testing with an iron panel that included measurement of serum iron, ferritin, and transferrin and the percent saturation of transferrin was also performed. Scanning of the abdomen by magnetic resonance imaging was performed to quantify the hepatic and splenic volumes. Serum specimens were collected for immunologic analysis before glucocerebrosidase infusion. The genotype was determined in DNA obtained from cultured skin fibroblasts, according to the procedure of Firon et a1.18 Because serum iron levels and the percent saturation of transferrin are low in many patients with Gaucher's disease, the administration of therapeutic doses of oral ferrous sulfate was begun in all participants one month before enzyme infusion. Iron supplementation was continued throughout the trial in conjunction with serial monitoring of the results of the iron panel. This approach ensured that any increases in the hemoglobin concentration observed during enzyme replacement were not dependent on or limited by the iron concentration.
Twelve patients who fulfilled the selection criteria were treated with macrophage-targeted glucocerebrosidase (Ceredase, Genzyme, Cambridge, Mass.), administered in a dose of 60 IU per kilogram of body weight by intravenous infusion once every two weeks. For each infusion, the requisite amount of enzyme was diluted to a total volume of 100 ml with 0.9 percent sodium chloride solution (U.S.P.). To guard against adverse reactions, each patient was given a test dose of 5 ml and observed for 10 minutes. The remainder of the dose was then infused over a period of one to two hours. In two severely ill children (Patients 7 and 8), the frequency of enzyme administration was increased to once a week between weeks 8 and 35 and between weeks 10 and 36, respectively, because of mechanical problems associated with massive splenomegaly.
At each return visit to the National Institutes of Health, a complete blood count including a reticulocyte count, routine serum biochemical values, serum acid phosphatase activity, the prothrombin and partial-thromboplastin times, and the plasma glucocerebroside level were determined before enzyme infusion. Plasma glucocerebroside levels were quantified by high-performance liquid chromatography.19 Infusions were continued without interruption for a minimum of nine months. The results of an iron panel were obtained every two months. Routine urinalyses were performed, and serum specimens were analyzed for the presence or absence of antibody to the infused enzyme every three months.20 Chest radiography, electrocardiography, testing for hepatitis B and HIV, radiography of the long bones, and quantitative abdominal magnetic resonance imaging were repeated at six-month intervals. Serial analyses of the hemoglobin concentrations, platelet count, serum acid phosphatase activity, plasma glucocerebroside level, and hepatic and splenic volumes served as markers of the clinical response to enzyme infusions. Changes in the skeleton were monitored radiographically.
Statistical Analysis
Initial hematologic and chemical measurements and determinations of organ volumes were compared with values obtained after six months of enzyme treatment, by Wilcoxon signed-rank tests.21 Changes in hemoglobin and acid phosphatase values over time were generally modeled as monomolecular growth.22 Linear regressions23 were used to model longitudinal changes in the platelet count and plasma glucocerebroside level.
Results
Characteristics of the Patients
Four adults and eight children with moderate-to-severe Gaucher's disease participated in the trial. Genotype assignment (Table 1Table 1
Clinical and Laboratory Findings in 12 Patients Treated with Human Placental Macrophage-Targeted Glucocerebrosidase.) revealed that none of the patients were homoallelic for the mutation at amino acid 444 that has been associated with neuronopathic Gaucher's disease.18 , 26 , 27 At entry, all 12 patients were anemic, with hemoglobin levels ranging from 68 to 107 g per liter, and 10 had thrombocytopenia (platelet count, <162*109 per liter). Biochemical markers of Gaucher's disease (plasma glucocerebroside level and serum acid phosphatase activity) were elevated in all patients at entry. The liver constituted between 3.1 and 8.6 percent of the body weight (1.2 to 3.4 times normal), and the spleen between 0.7 and 20 percent (3.5 to 100 times normal). A history of a single bone infarction was reported by five participants (Patients 3 through 7). A review of radiographs of the lower extremities of all patients at entry revealed mild bone disease. None had radiographic evidence of aseptic necrosis. Six patients had sclerotic changes in the distal femur and proximal tibia that were indicative of previous infarction (Patients 1, 2, 3, 5, 6, and 7). Mild-to-moderate Erlenmeyer-flask deformities were noted in five participants (Patients 1, 4, 6, 7, and 12). Expansion of the bone marrow compartment (marrow packing) was apparent on the radiographs of all except two patients (Patients 3 and 9).hematologic Responses
The hemoglobin concentration increased in all patients (Table 1). Comparison of the initial and final values by the Wilcoxon signed-rank test revealed that the increase was significant (P<0.003). This response first became noticeable after three to four months of enzyme-replacement therapy. In nine patients the increase in the hemoglobin level was exponential over time, whereas in three (Patients 1, 3, and 11) it was linear; an example of an exponential increase is shown in Figure 1.Figure 1
Effect of Macrophage-Targeted Glucocerebrosidase on the Hemoglobin Concentration in Patient 12. When the study was closed for purposes of data analysis after 9 to 12 months of treatment, the hemoglobin concentration had risen to normal values for age in seven patients (Patients 2 through 7 and Patient 12).The platelet count was slower to respond than the hemoglobin level. Two patients (Patients 3 and 4) had normal platelet counts at the time of enrollment (Table 1). The count increased significantly in seven patients during enzyme treatment, as determined by linear regression analysis (Patients 2, 5, 6, 7, 9, 11, and 12); the P values ranged from 0.0001 (Patients 5, 7, 9, and 11) to 0.026 (Patient 6). An example of the platelet response is shown in Figure 2. By the closure date, the platelet count in two patients who had had thrombocytopenia (Patients 7 and 12) had risen to normal values.
Biochemical Markers of Gaucher's Disease
Serum acid phosphatase activity was elevated in all 12 patients at the time of enrollment. It decreased substantially in 10 patients (Table 1) but minimally in 2 (Patients 3 and 9), in whom the level at entry was only slightly above the normal range. Comparison of the initial and final values by the Wilcoxon signed-rank test in all patients disclosed that the decrease was significant (P<0.004). The decrease in acid phosphatase activity was exponential over time in 9 of the 10 patients in whom substantial reductions were observed, whereas it was linear in 1 (Patient 2). The decrease became evident after three to four months of treatment (Fig. 3Figure 3
Effect of Glucocerebrosidase on Serum Acid Phosphatase Activity in Patient 11:) and appeared to be inversely related to the change in the hemoglobin level.The plasma glucocerebroside level was elevated in 11 patients at the time of entry. It decreased significantly in nine patients, as determined by linear regression analysis; P values ranged from 0.0003 (Patient 8) to 0.042 (Patient 11). In three (Patients 4, 7, and 12), the plasma levels showed a downward trend; variability over time, however, precluded demonstration of a significant regression. The plasma glucocerebroside level was slower to respond than the hemoglobin level and acid phosphatase activity (Fig. 4Figure 4
Effect of Infused Glucocerebrosidase on the Plasma Glucocerebroside Level in Patient 6.).Reduction of Organomegaly
Hepatosplenomegaly was present in all patients at entry. The proportional enlargement of the spleen was always much greater than that of the liver (Table 1). The 95 percent confidence interval for the determinations of hepatic and splenic volume by magnetic resonance imaging is ±12 percent (Hill SC: unpublished data). Hepatic volume decreased significantly, by 16 to 22 percent, in five patients after six months of treatment (Patients 4, 7, 8, 11, and 12). Splenic volume decreased significantly in all recipients of the enzyme (Table 1); the mean reduction after six months was 33 percent, with a range of 14 percent (Patient 3) to 75 percent (Patient 7) (Fig. 5Figure 5
Abdomen of Patient 7 before (A) and after (B) Six Months of Enzyme Replacement.). The fractional reduction in splenic volume in each patient correlated strongly with the magnitude of the hematologic response after six months (Fig. 6Figure 6
Reduction in the Ratio of Splenic Volume to Body Weight, in Relation to the Magnitude of Change in the Hemoglobin Level.).Skeletal Response
A salutary response of the skeleton was the last to develop. In spite of the comparatively short period, over which only slight skeletal improvement might be anticipated on the basis of previous findings,17 early signs of improvement on radiographs of the long bones were seen in three patients after six months of treatment. The improvement consisted of an increase in trabecular bone in the metaphyseal areas (Patients 4 and 7) and a resolution of endosteal scalloping (Patient 12).
Drug Safety
The enzyme infusions were well tolerated throughout the treatment period. There were no untoward reactions of any type and no evidence of development of antibody to the enzyme.20
Discussion
Intravenous administration of macrophage-targeted human placental glucocerebrosidase to 12 patients with moderate-to-severe type 1 Gaucher's disease dramatically reversed the signs of the illness in all recipients, regardless of genotype. Even the two patients homoallelic for the 370 mutation, which has been associated with a more indolent course,27 had a clinically appreciable reversal of anemia (Patient 3) and thrombocytopenia (Patient 9). Improvement in each index of disease activity required a minimum of three to four months of biweekly enzyme infusions. The time course of improvement appeared to be specific to the organ system. The hematologic and visceral responses substantially preceded the skeletal response. The most striking change was an increase in all patients in the hemoglobin concentration, which rose into the normal range in seven patients during the trial. This response first became apparent after three months of treatment. Less dramatic but statistically significant increases in the platelet count were observed in seven patients. The platelet count was slower to respond to treatment than the hemoglobin concentration.
The response of biochemical markers of Gaucher's disease tended to parallel the hematologic response. A significant reduction in serum acid phosphatase activity was observed in 10 patients. This change occurred rapidly and followed a course that appeared to be the inverse of the course of the hemoglobin level. A reduction in the plasma glucocerebroside level was slower to develop, with statistically significant decreases apparent in nine patients after 9 to 12 months of treatment.
The hematologic and biochemical responses occurred in conjunction with significant reductions in splenic volume in all patients. Reversals of this type have not been observed in untreated patients.28 , 29 The percentage increase in the hemoglobin concentration after six months correlated strongly with the fractional reduction in the ratio of splenic volume to body weight. These observations suggest that a reduction in the degree of splenic sequestration or in hypersplenism (or both) contributes to the salutary hematologic effects of enzyme replacement early in the course of treatment.
Skeletal changes developed more slowly than the hematologic and visceral changes. Earlier detection of responses of the skeleton will require the development of more sensitive monitoring procedures. The slow rate of response in the skeleton may reflect limited delivery of the enzyme to the bone marrow compartment. Enzyme delivery may be further limited by the degree of reticuloendothelial hyperplasia in the liver and spleen in patients with Gaucher's disease. This interpretation is supported by comparative histologie and ultrastructural analyses of biopsy specimens obtained from patients before and after enzyme infusion (Barton NW: unpublished data) and by modeling studies in normal laboratory animals.30 A large fraction of intravenously administered macrophage-targeted glucocerebrosidase is delivered to the liver and spleen and produces direct disruption of lysosomal storage deposits. Since there is no acute, measurable reduction in the plasma glucocerebroside level after a single infusion of this enzyme preparation (Barton NW: unpublished data), redistribution of glucocerebroside between storage depots by means of a low-density-lipoprotein shuttle mechanism would appear to have a small role in the response of individual organs to enzyme replacement.
Macrophage-targeted glucocerebrosidase was safely administered on a long-term basis. All recipients gained weight during the study, and all the children grew taller. The quality of life improved, as assessed by the patients. Episodes of epistaxis, easy bruisability, bone pain, early satiety, and chronic fatigue decreased substantially during the trial. Regardless of genotype, all patients reported having increased vigor and engaged in activities of daily living with far greater ease and self-confidence. Self-esteem and self-image improved markedly. These subjective responses to treatment appeared to correlate with the relief of anemia and thrombocytopenia and the reduction in the degree of abdominal distension as the volume of the liver and spleen decreased. In contrast, episodes of bone pain appeared to decrease before objective evidence of improvement was demonstrable on skeletal radiographs, probably reflecting the relative insensitivity of skeletal radiography in detecting change in the marrow compartment.
We conclude that intravenous infusion of macro-phage-targeted glucocerebrosidase is a safe and highly beneficial treatment for selected patients with type 1 Gaucher's disease. The demonstration that the disease process can be reversed by enzyme replacement provides a strong foundation for further investigation. The process of selection of patients for whom this therapy would be ideal and the optimal dose and frequency of administration of the enzyme are not fully established. At present, treatment with large doses (60 IU per kilogram once or twice a week) is indicated to gain control of the disease process in patients who are moderately to severely affected, as gauged by the degree of anemia, thrombocytopenia, visceromegaly, or skeletal involvement. The dose of the enzyme and its frequency of administration can probably be decreased to an as yet unknown extent as the illness remits. On the basis of the salutary effects of enzyme replacement observed in this study, it seems likely that this approach may also be beneficial to patients with other heritable metabolic disorders.
From the Developmental and Metabolic Neurology Branch (N.W.B., R.O.B., G.J.M., C.E.A., R.P.G., K.-T.Y.) and the Biometry and Field Studies Branch (J.M.D.), National Institute of Neurological Disorders and Stroke; the Liver Diseases Section, National Institute of Diabetes and Digestive and Kidney Diseases (A.M.D.); the Departments of Diagnostic Radiology (S.C.H.) and Clinical Pathology (R.I.P.), Clinical Center; all at the National Institutes of Health, Bethesda, Md.; and the Department of Orthopedic Surgery (S.H.D., H.J.M.), Massachusetts General Hospital, Boston. Address reprint requests to Dr. Barton at Bldg. 10, Rm. 3D04, National Institutes of Health, Bethesda, MD 20892.
Supported in part by a grant (to G.J.M.) from the National Gaucher Foundation. A portion of the enzyme used in these studies was provided by the Genzyme Corporation, Cambridge, Mass.
Presented in part at the annual meeting of the American Society for Clinical Investigation, Washington, DC, May 6, 1990.
We are indebted to Drs. Edwin H. Kolodny of the Eunice Kennedy Shriver Center (Waltham, Mass.) and Mia Horowitz of the Weizmann Institute of Science (Rehovot, Israel) for the analyses of the patients' genotypes, to Diane Hegerle for her capable assistance with data management, and to Andrew Lake for coordination and management of the data base.
Source Information
Collaborators*
The collaborators in the study were Olive C. Graham, R.N. (Nursing Department, Clinical Center), and Carol A. Holder, R.N., B.S.N., Karyn D. Howard, B.S., Christine R. Kaneski, B.S., Katharine L. Oliver, M.S., Steven Riesz, B.A., Carol L. Verderese, R.N., and Gregory C. Zirzow, B.S. (Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke), National Institutes of Health, Bethesda, Md.
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