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Cessation of enzyme replacement therapy in Gaucher disease
- Source :
- Genetics in Medicine. 4:427-433
- Publication Year :
- 2002
- Publisher :
- Elsevier BV, 2002.
-
Abstract
- Purpose: Enzyme replacement therapy (ERT) is a promising therapeutic intervention for lysosomal storage diseases. Posttranslationally engineered human β-glucocerebrosidase (Ceredase®/Cerezyme®) is commercially available and is the standard ERT for Type I Gaucher disease. Cessation of therapy is sometimes necessary for personal or financial reasons, but the consequences of discontinuation are unknown. This study reports results of discontinuing therapy in four patients with Type I Gaucher disease with different genotypes and varying degrees of clinical involvement. Methods: Patient genotypes were as follows: N370S/L444P (Patients 1 and 2), K79N/K79N (Patient 3), and N370S/N370S (Patient 4). All were evaluated before, during, and after withdrawal from ERT. Patients 1, 2, and 3 were studied after reinstituting ERT. The following parameters were documented at 3- to 12-month intervals in all patients: hemoglobin, platelet count, angiotensin-converting enzyme, spleen volume, liver volume, femoral magnetic resonance imaging, bone density, and urinary pyridinium crosslinks. Results: After cessation of therapy, Patients 1, 2, and 3 had more dramatic regression in hematological and visceral parameters than Patient 4 and required reinstitution of ERT within 2 years. All three patients recovered posttreatment status within 4 years of reinstituting ERT. Patient 4 remained stable 6 years after cessation of ERT. Conclusions: Regression of disease status in patients with Type I Gaucher disease after cessation of ERT conformed to the genotype-phenotype relationships of disease onset. Careful monitoring and reinstitution of ERT enabled previously attained treatment status.
- Subjects :
- Adult
Male
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Disease status
Adolescent
Genotype
Bone density
Urinary system
Disease
Internal medicine
Humans
Medicine
Child
Genetics (clinical)
Gaucher Disease
Withholding Treatment
medicine.diagnostic_test
business.industry
nutritional and metabolic diseases
Magnetic resonance imaging
Enzyme replacement therapy
Middle Aged
Recombinant Proteins
Surgery
Discontinuation
Treatment Outcome
Child, Preschool
Glucosylceramidase
Female
business
Subjects
Details
- ISSN :
- 10983600
- Volume :
- 4
- Database :
- OpenAIRE
- Journal :
- Genetics in Medicine
- Accession number :
- edsair.doi.dedup.....dde03f477cd6f4a157139c7aebcaa9b0