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MP 5.01.101 Enzyme-replacement Therapy for Lysosomal Storage Disorders

Medical Policy    
Section
Prescription Drugs
Original Policy Date
04/08/2008
Last Review Status/Date
Updated Local policy/5:2011
Issue
5:2011
  Return to Medical Policy Index

Disclaimer

Our medical policies are designed for informational purposes only and are not an authorization, or an explanation of benefits, or a contract.  Receipt of benefits is subject to satisfaction of all terms and conditions of the coverage.  Medical technology is constantly changing, and we reserve the right to review and update our policies periodically.

 


Description

Lysosomal Storage Disorders are the result of an abnormality of the lysosomal process by which enzymes rid cells of substrate. Lysosomes contain about 40 different hydrolytic enzymes, produced in cell cytoplasm and each responsible for breaking down a particular substrate. When a lysosomal enzyme (or another type of enzyme that directs it) is deficient or malfunctioning, the substrate it targets accumulates, interfering with normal cellular activity.
There are eight LSD sub-categories each of which contains the diseases that fall under them:

  • Defective degradation of glycogen    
    • Pompe disease
  • Defective degradation of sphingolipid components
    • acid sphingomyelinase deficiency
    • Fabry disease
    • Farber disease
    • Gaucher disease, type I
    • Gaucher disease, type II
    • Gaucher disease, type III
    • GM1 gangliosidosis, type I
    • GM1 gangliosidosis, type II
    • GM1 gangliosidosis, type III
    • Tay-Sachs disease, type I
    • Tay-Sachs disease, type II
    • Tay-Sachs disease, type III
    • Sandhoff disease
    • Krabbé disease
    • metachromatic leukodystrophy, type I
    • metachromatic leukodystrophy, type II
    • metachromatic leukodystrophy, type III
  • Defective metabolism of glycosaminoglycans (also known as the “mucopolysaccharidoses”)
    • MPS I
    • MPS II
    • MPS III
    • MPS IV
    • MPS VI
    • MPS VII
  • Defective degradation or transport of cholesterol, cholesterol esters, or other complex lipids
    • neuronal ceroid lipofuscinosis, type I
    • neuronal ceroid lipofuscinosis, type II
    • neuronal ceroid lipofuscinosis, type III
    • neuronal ceroid lipofuscinosis, type IV
  • Multiple deficiencies of lysosomal enzymes    
    • galactosialidosis
    • mucolipidosis II
    • mucolipidosis III
  • Transport and trafficking defects    
    • cystinosis
    • mucolipidosis IV
    • infantile sialic acid storage disease (ISSD)
    • Salla disease
  • Defective degradation of polypeptides    
    • pycnodysostosis
  • Defective degradation of glycan portion of glycoproteins
    • aspartylglucosaminuria
    • fucosidosis, type I
    • fucosidosis, type II
    • mannosidosis
    • sialidosis, type I
    • sialidosis, type II

 

 


Policy

Pompe Disease: Algucosidase Alfa (Myozyme) and Alglucosidase Alfa (Lumizyme)

Alglucosidase Alfa (Myozyme) is considered medically necessary for the treatment of members with documented infatile-onset Pompe disease.

Alglucosidase Alfa is considered investigational for all other indications including treatment of persons with other forms of Pompe disease because alglucosidase alfa has not been adequately studied in these forms of Pompe disease to assure safety and efficacy.

Alglucosidase Alfa (Lumizyme) is considered medically necessary for the treatment of members 8 years and older with late (non-infantile) onset Pompe disease (GAA deficiency) who do not have evidence of cardiac hypertrophy.

Alglucosidase Alfa is considered investigational for all other indications including treatment of persons with other forms of Pompe disease because alglucosidase alfa has not been adequately studied in these forms of Pompe disease to assure safety and efficacy.

Gaucher Disease: Alglucerase (Ceredase) and Imiglucerase (Cerezyme)

Alglucerase (Ceredase) and Imiglucerase (Cerezyme) are considered medically necessary for adult members with Type I Gaucher disease who have one or more of the following signs and symptoms:

  • Thrombocytopenia (platelet count less than or equal to 120,000/mm3);
  • Moderate to severe anemia (hemoglobin less than or equal to 11.5 g/dL (adult women) or 12.5 g/dL (adult men) or less than or equal to 1.0 g/dL or more below the lower limit of normal for age and sex);
  • Skeletal disease beyond mild osteopenia and Erlenmeyer flask deformity;
  • Significant hepatomegaly (liver size 1.25 or more times normal (1750 cc in adults) or splenomegaly (spleen size 5 or more times normal (875 cc in adults)
  • Symptomatic disease, including abdominal or bone pain, fatigue, exertional limitation, weakness, or cachexia

Cerezyme may be administered in a home outpatient setting after the initial dose provided precautions have been taken in case of an allergic reaction. 

Algucerase and Imiglucerase are considered medically necessary for children and adolescents less than 18 years of age who are diagnosed with Type I Gaucher disease.

Algucerase and Imiglucerase are considered investigational for all other indications.

Velaglucerase alfa (VPRIV) is considered medically necessary for long-term enzyme replacement therapy (ERT) for pediatric and adult patients with type 1 Gaucher disease.

Velaglucerase alfa (VPRIV) is considered investigational for all other indications.

Fabry Disease: Agalsidase Beta (Fabrazyme)

Agalsidase beta is considered medically necessary for use in members diagnosed with Fabry Disease.

Fabrazyme can be given safely in an outpatient infusion suite after 10-12 treatments in a hospital based infusion setting with acknowledgement of no ill effects or an absence of side effects. It must be administered through a port.

Agalsidase beta is considered investigational for all other indications.

Defective metabolism of glycosaminoglycans: Laronidase (Aldurazyme)

Laronidase (Aldurazyme) is considered medically necessary for members diagnosed with Hurler and Hurler-Scheie forms of mucopolysacchararidoses I (MPS I) and for members diagnosed with the Scheie form who have moderate to severe symptoms.

Laronidase (Aldurazyme) is considered investigational for all other indications including treatment of members with the Scheie form of MPS I who have mild symptoms, as the risks and benefits of treating mildly affected persons with the Scheie form have not been established.

Laronidase can be given in an outpatient  infusion setting as long as provisions are made for potential serious allergic reactions.

Mucopolysaccharidoses: Galsulfase (Naglazyme)

Galsulfase is considered medically necessary for the treatment of members with mucopolysaccharidosis VI (MPS VI).

Galsulfase is considered investigational for all other indications.

Galsulfase can be given in an outpatient infusion setting as long as provisions are made for potential serious allergic reactions.

Idursulfase (Elaprase)

Idursulfase (Elaprase) is considered medically necessary for the treatment of members with Hunter syndrome (mucopolysaccharisosis II).

Idursulfase (Elaprase) is considered investigational for all other indications.

Idursulfase can be given in an outpatient setting as long as provisions are made for potential serious allergic reactions.

 


 

 

 

Rationale

Infantile Pompe Disease

Infantile Pompe disease (IPD), also known as infantile acid maltase deficiency and type 2 glycogen storage disease, is an autosomal recessive muscle-wasting disorder due to a deficiency of the lysosomal enzyme acid alpha-glucosidase. The deficiency results in accumulation of glycogen in lysosomes and is characterized by progressive cardiomyopathy, skeletal muscle weakness and respiratory insufficiency leading to death in early infancy. Pompe disease is estimated to occur in about 1 in 40,000 live births.
On April 28, 2006, the FDA approved alglucosidase alfa, rhGAA (Myozyme), the first treatment for IPD. Alglucosidase alfa had been granted FDA orphan drug status and was approved under a priority review.
Alglucosidase alfa (Genzyme Corp, Cambridge, MA) is administered by intravenous infusion every 2 weeks. The recommended dosage is 20 mg/kg body weight administered over approximately 4 hours. The initial 6 months of therapy are to be administered in a hospital based infusion setting (inpatient if under the Myozyme Temporary Access Program, then should be moved to an outpatient infusion suite.  If not given under MTAP, then it should be given in an outpatient hospital setting.)
The safety and efficacy of alglucosidase alfa were assessed in 2 separate clinical trials in patients ('n=39) with infantile-onset Pompe disease ranging in age from 1 month to 3.5 years at the time of the first infusion. Patient survival without needing invasive ventilatory support was substantially greater in the alglucosidase alfa-treated infants than would be expected considering the high mortality rate of untreated patients of similar age and disease severity. According to the FDA, the drug's safety and effectiveness in other forms of Pompe disease have not been adequately studied.
The most serious adverse reactions reported with alglucosidase alfa were heart and lung failure and allergic shock. Most common reactions included pneumonia, respiratory failure and distress, infections, and fever. A black box warning is included in the Myozyme label to warn about the possibility of life-threatening allergic reactions.

Gaucher Disase

Alglucerase (Ceredase) or imiglucerase (Cerezyme) are currently the only treatments available for Type 1 (non-neuronopathic) Gaucher disease. They have not been shown to reverse or ameliorate neurological symptoms associated with Type 2 (acute neuronopathic) or Type 3 (subacute or chronic neuronopathic) Gaucher disease. Alglucerase and imiglucerase have also not been shown to improve health outcomes in patients with Type 1 Gaucher disease without signs or symptoms of disease.
At this time, no effective minimum dosage has been established for alglucerase or imiglucerase. These drugs are administered no more than three times per week. The patient's response is reassessed at least every three months, with the intent of adjusting the frequency and size of doses.
Alglucerase and imiglucerase are administered by intravenous infusion over a period of one to two hours. Dosage should be individualized for each patient. Initial dosage may be as little as 2.5 units per kilogram of body weight 3 times a week up to as much as 60 units/kg administered as frequently as once a week or as infrequently as every 4 weeks. Doses as low as 1 unit per kilogram of body weight monthly may be adequate for some patients. The dose for which the most data is available is 60 units/kg every 2 weeks.
Disease severity may dictate that the drug be initiated with relatively high doses or relatively frequent administration. After patient response is well established, a reduction in dosage may be attempted for maintenance therapy. Progressive reductions can be made at intervals of 3 to 6 months while carefully monitoring response parameters.
The ICGG U.S. Regional Coordinators recommend that all children with Gaucher disease be treated with enzyme replacement therapy. Children with Gaucher disease are at high risk for irreversible, morbid complications. The diagnosis of Gaucher disease in the 1st and 2nd decades of life is indicative of a rapidly progressive course. Early intervention is necessary for these children, during the time when the skeleton is immature, to enable them to attain their peak skeletal mass by early adulthood.

Mucopolysaccharidosis I (MPS I)

The mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders caused by the deficiency of specific enzymes that are required for the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. Mucopolysaccharidosis I disease (MPS I) is a progressive, autosomal recessive genetic disorder resulting from a defect in the gene for the lysosomal enzyme alpha-L-iduronidase. It is estimated that approximately 1000 persons are afflicted with MPS I in the United States. This enzyme deficiency results in an accumulation of the glycosaminoglycans dermatan sulfate and heparan sulfate, which are components of the extracellular matrix and connective tissues throughout the body. The inability to catabolize GAG results in its accumulation in the lysosome, resulting in cell, tissue, and organ dysfunction. MPS I results in a variety of clinical manifestations, including umbilical and inguinal hernias, skeletal abnormalities, recurrent and persistent upper respiratory tract infections, coarse facial features, arthropathy, hydrocephalus, spinal root and peripheral nerve entrapment, obstructive airway disease, sleep apnea, hearing loss, hepatosplenomegaly, corneal clouding, glaucoma, retinal degeneration, optic trophy, cardiac vavlular and ischemic myocardial damage. The diagnosis of MPS I is established by enzyme assay that measures alpha-L-iduronidase activity in leukocytes, plasma, or cultured skin fibroblasts. Enzyme activity is markedly deficient (<1% normal)='normal)' affected='affected' patients.='patients.' Prenatal='Prenatal' diagnosis='diagnosis' by='by' measurement='measurement' of='of' alpha-L-iduronidase='alpha-L-iduronidase' activity='activity' in='in' cultured='cultured' amniocytes='amniocytes' or='or' chorionic='chorionic' villi='villi' is='is' also='also' possible. Laronidase is administered to provide exogenous enzyme for uptake into the lysosomes in order to increase the catabolism of GAG. Enzyme replacement therapy with laronidase has been shown to provide clinically important benefits, such as improved pulmonary function and walking ability and reduction of excess carbohydrates stored in organs. In a randomized, placebo-controlled clinical study for U.S. Food and Drug Administration for approval of laronidase, 45 MPS I patients were randomly assigned to laronidase or placebo. After 26 weeks, patients treated with laronidase showed statistically significant improvement in forced vital capacity (FVC) (median difference of 2 percent (95% CI 0.4 to 7)) compared to placebo-treated patients. In addition, laronidase-treated patients showed a trend toward improvement in distance walked in 6 minutes (median difference 39 meters (95% CI -2 to 79) compared to placebo-treated patients; however, this difference was not statistically significant. Liver size and urinary GAG levels decreased in patients treated with laronidase compared to patients treated with placebo.
All 45 patients received open-label laronidase for 36 weeks following the double-blind period. Maintenance of mean FVC and an additional increase in mean distance walked in 6 minutes were observed compared to the start of the open-label period among patients who were initially randomized to and then continued to receive laronidase. Among patients who had been initially randomized to placebo, improvements from baseline in mean FVC and distance walked in 6 minutes were observed compared to the start of the open-label period.
Laronidase is administered intravenously once every week. The recommended dosage for laronidase is 0.58 mg/kg. There is no published information on the effect on response rates of increased doses of laronidase beyond the FDA-recommended dosage. As a prerequisite for approval, the FDA has required the manufacturer to conduct post-marketing studies of different dosages and schedules of laronidase in clinical response. At this point, there is no evidence to support dosing laronidase beyond that recommended in the product labeling.
The most common adverse reactions associated with laronidase in clinical studies were upper respiratory tract infection, rash, and injection site reaction. The most common adverse reactions requiring intervention were infusion-related hypersensitivity reactions, including flushing, fever, headache, and rash.
Corrective surgery may be necessary for MPS I patients with joint contractures or foot and hand deformities. Corneal transplants may be required if vision problems become severe.
Grewal and colleagues (2005) described their initial experience with combined use of laronidase and hematopoietic stem cell transplantation in the treatment of patients with Hurler syndrome (n = 12). They concluded that in children with Hurler syndrome, laronidase and hematopoietic stem cell transplantation is feasible and well tolerated. Development of antibodies against exogenous enzyme does not appear to correlate with infusion reactions or response to laronidase. A prospective study is needed to ascertain the effect of concomitant enzyme replacement therapy on transplant outcomes.

Mucopolysaccharidosis VI

Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a debilitating, life-threatening genetic disease caused by a deficiency of the enzyme N-acetylgalactosamine 4-sulfatase. This deficiency results in the accumulation of glycosaminoglycans in the lysosomes, giving rise to progressive cellular, tissue and organ system dysfunction. An estimated 1,100 persons in the developed world have MPS VI. The majority of patients with MPS VI die from disease-related complications between childhood and early adulthood.
Harmatz and associates (2004) assessed the safety and effectiveness of weekly treatment with human recombinant N-acetylgalactosamine 4-sulfatase (rhASB) in humans with MPS VI. Patients were randomized to weekly infusions of either high (1.0 mg/kg) or low (0.2 mg/kg) doses of rhASB. Six patients (3 male, 3 female; age 7 to 16 years) completed at least 24 weeks of treatment, five of this group have completed at least 48 weeks. No drug-related serious side effects, significant laboratory abnormalities, or allergic reactions were observed in the study. The high-dose group experienced a more rapid and larger relative reduction in urinary glycosaminoglycan that was sustained through week 48. Improvements in the 6-minute walk test were observed in all patients with dramatic gains in those walking less than100 meters at baseline. Shoulder range of motion improved in all patients at week 48 and joint pain improved in patients with significant pain at baseline. The authors concluded that rhASB treatment was well-tolerated and reduced lysosomal storage as indexed by a dose-dependent reduction in urinary glycosaminoglycan. Clinical responses were present in all patients, but the largest gains occurred in patients with advanced disease receiving high-dose rhASB.
On June 1, 2005, galsulfase (Naglazyme, BioMarin Pharmaceutical Inc., Novato, CA) was granted orphan drug status by the FDA for the treatment of MPS VI. Galsulfase has been reported to improve endurance as shown by the 12-minute walk test as well as the 3-minute stair climb. It reduces the urinary excretion of glycosaminoglycans, an indication of enzymatic bioactivity, in patients with MPS VI.

Idursulfase (Elaprase)

Hunter syndrome (mucopolysaccharidosis II) is an X-linked, recessive, lysosomal storage disease that is caused by a defect of the iduronate-2-sulfatase gene, and consequently female patients are rare. It is diagnosed in approximately 1 out of 65,000 to 132,000 births. Hunter syndrome usually becomes apparent in children 1 to 3 years of age. Symptoms include growth delay, joint stiffness, and coarsening of facial features. In severe cases, patients experience neurological deficits, enlargement of the liver and spleen, cardiac as well as respiratory problems, and death.
On July 24, 2006, the FDA approved idursulfase (Elaprase) (Shire Human Genetic Therapies, Inc., Cambridge, MA) for the treatment of Hunter syndrome. Idursulfase was designated as an orphan drug, and was approved after a randomized, double-blind, placebo-controlled clinical trial of 96 patients showed that the treated subjects had an improved capacity to walk. At the end of the 53-week study, patients who received idursulfase infusions experienced on average a 38-yard greater increase in the distance walked in 6 minutes compared to the patients on placebo. The most serious side effects reported during the trial were hypersensitivity reactions to idursulfase that could be life-threatening. They included respiratory distress, drop in blood pressure, and seizure. Other frequent, but less serious side effects included fever, headache, and joint pain. The recommended dosage regimen of idursulfase is 0.5 mg/kg of body weight administered every week as an intravenous infusion.

Fabry Disease

Fabry disease is a progressive, X-linked genetic disorder resulting from a defect in the gene for the lysosomal enzyme, alpha-GAL. This enzyme deficiency results in an accumulation of globotriosylceramide (GL-3) and other lipids in tissues throughout the body. The inability to catabolize GL-3 can lead to renal failure, cardiomyopathy, and cerebrovascular accidents. The estimated incidence of Fabry disease is 1 in 40,000 males. Diagnosis of Fabry disease is confirmed by low or absent alpha-galactosidase activity in plasma or serum, leukocytes, tears, biopsied tissues, or cultured skin fibroblasts.
Agalsidase beta reduces GL-3 deposition from the interstitial endothelium of the kidney and certain other cell types. The reduction of GL-3 inclusions suggests that agalsidase beta may ameliorate disease expression of Fabry disease; however, the FDA-approved labeling notes that the relationship of GL-3 inclusion reduction to specific clinical manifestations of Fabry disease has not been established.
Agalsidase beta is administered by intravenous infusion every 2 weeks. The recommended dosage for agalsidase beta is 1.0 mg/kg. In clinical studies of agalsidase beta submitted to the FDA for approval, 58 Fabry patients were randomly assigned to five months treatment with either agalsidase beta or placebo. The primary efficacy endpoint of GL-3 inclusions in renal interstitial capillary endothelial cells, was assessed by light microscopy and was graded on an inclusion severity score ranging from 0 (normal or near normal) to 3 (severe inclusions). A GL-3 inclusion score of 0 was achieved by 20 of 29 (69%) patients treated with agalsidase beta compared to 0 of 29 patients treated with placebo ('p < 0.001). Similar reductions in GL-3 inclusions were observed in the capillary endothelium of the heart and skin. However, during this 5-month study, no differences between groups in symptoms or renal function were observed.
The most serious and most common adverse reactions reported with agalsidase beta are infusion-associated reactions. Thus, the manufacturer recommends that patients be given antipyretics prior to infusion.
 

References:

  1. Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991;324:1464-1470.
  2. Barton NW, Furbish FS, Murray GJ, et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Med Sciences. 1990;87:1913-1916.
  3. Genzyme Corp. Ceredase (aglucerase injection). Prescribing Information. 1811/Rev. 6. Cambridge, MA: Genzyme; January 1995.
  4. Genzyme Corp. Cerezyme (imiglucerase for injection). Prescribing Information. 4336. Cambridge, MA: Genzyme; December 1998.
  5. National Institutes of Health (NIH). Gaucher Disease: Current Issues in Diagnosis and Treatment. NIH Technology Assessment Conference Statement. Bethesda, MD: NIH; February 27- March 1, 1995. 
  6. U.S. Pharmacopeial Convention, Inc. USP Dispensing Information. Vol. 1 - Drug Information for the Healthcare Professional. 18th ed. Rockville, MD: USP; 1998.
  7. American Society of Health-System Pharmacists, Inc. AHFS Drug Information '98. Bethesda, MD: ASHSP; 1998.
  8. International Collaborative Gaucher Group (ICGG), U.S. Regional Coordinators. Guidelines on Management of Gaucher Disease. Cambridge, MA: ICGG; 1998.
  9. U.S. Congress, Office of Technology Assessment (OTA). Federal and private roles in the development and provision of alglucerase therapy for Gaucher disease. Washington DC: U.S. Government Printing Office; 1992:48.
  10. Hallam L, Bryant J. Ceredase in the treatment of type 1 Gaucher's disease. Southampton, UK: Wessex Institute for Health Research and Development; 1996.
  11. University of Birmingham, Department of Public Health and Epidemiology. Aggressive Research Intelligence Facility (ARIF). Gaucher Disease. Ceredase/Cerezyme. Birmingham, UK: University of Birmingham; August 1996.
  12. Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry. Am J Med. 2002;113(2):112-119.
  13. Poll LW, Maas M, Terk MR, et al. Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol. 2002;75(Suppl 1):A25-A36.
  14. Vellodi A, Bembi B, de Villemeur TB, et al. Management of neuronopathic Gaucher disease: A European Consensus. Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease. J Inherit Metab Dis. 2001;24:310-327. Available at: http://www.gaucher.org.uk/consen.pdf. Accessed December 17, 2002.
  15. Human Genetics Society of Australasia (HGSA) Medical Genetic Therapy Working Party. Guidelines for the Treatment of Gaucher Disease by Enzyme Replacement Therapy with Imiglucerase. Alexandria, Victoria, Australia: HGSA; August 16, 1999. Available at: http://www.health.gov.au/pbs/supply/gaucherguidelines.pdf. Accessed December 17, 2002.
  16. National Horizon Scanning Centre (NHSC). Laronidase for mucopolysaccharidosis I. Birmingham, UK: NHSC; 2001:4.
  17. Kakkis ED, Muenzer J, Tiller GE. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001;344(3):182-188.
  18. Roubicek M, Gehler J, Spranger J. The clinical spectrum of alpha-L-iduronidase deficiency. Am J Med Genet. 1985;20(3):471-481.
  19. Nash D, Varma S. Mucopolysaccharidosis type IH. eMedicine Genetics and Metabolic Disease. Omaha, NE: eMedicine.com; May 12, 2003.
  20. Nash D, Varma S. Mucopolysaccharidosis type I H/S. eMedicine Genetics and Metabolic Disease. Omaha, NE: eMedicine.com; May 12, 2003.
  21. Nash D, Varma S. Mucopolysaccharidoses type IS. eMedicine Genetics and Metabolic Disease. Omaha, NE: eMedicine.com; May 12, 2003.
  22. Muenzer J, Clarke LA, Kolodny EH, et al. Enzyme replacement therapy for MPS I: 36-week interim results of the Phase 3 open-label extension study [abstract]. Proceeds of the Annual Clinical Genetics Meeting. 2003:34.
  23. Genzyme Corporation. Aldurazyme (laronidase) solution for intravenous infusion only. Prescribing Onformation. Version 5649. Cambridge, MA: Genzyme; May 2004.
  24. Genzyme Corporation. Fabrazyme (agalsidase beta) for intravenous infusion. Prescribing Information. Version 5031. Cambridge, MA: Genzyme; March 2004.
  25. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38(11):750-760.
  26. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769-775.
  27. Desnick RJ. Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138:338-346.
  28. National Horizon Scanning Centre (NHSC). Enzyme replacement therapy for people with Fabry's disease. Birmingham, UK: NHSC; 2001:5.
  29. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med. 2001:345:9-16.
  30. Thurberg BI, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 2002;62:1933-1946.
  31. Eng CM, Banikazemi M, Gordon RE, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet. 2001;68(3):711-722.
  32. Wasserstein M, McGovern M. Fabry disease. eMedicine Genetics and Metabolic Diseases. Omaha, NE: eMedicine.com; March 20, 2002.
  33. Canadian Coordinating Office for Health Technology Assessment (CCOHTA). Agalsidase alpha and agalsidase beta. Ottawa, ON: CCOHTA; 2002.
  34. Breunig F, Knoll A, Wanner C. Enzyme replacement therapy in Fabry disease: Clinical implications. Curr Opin Nephrol Hypertens. 2003;12(5):491-495.
  35. Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: Consensus recommendations. J Pediatr. 2004;144(1):112-120.
  36. Harmatz P, Whitley CB, Waber L, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr. 2004;144(5):574-580. 
  37. Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr. 2004;144(5):581-588.
  38. Brady RO, Murray GJ, Moore DF, Schiffmann R. Enzyme replacement therapy in Fabry disease. J Inherit Metabol Dise. 2001;24(Suppl 2) 18-24; discussion 11-12.
  39. Hilz MJ, Brys M, Marthol H, et al. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology. 2004;62(7):1066-1072.
  40. International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Human Genetics. 2004;75(1):65-74
  41. Hajioff D, Enever Y, Quiney R, et al. Hearing loss in Fabry disease: The effect of agalsidase alfa replacement therapy. J Inherit Metabol Dis. 2003;26(8):7 87-794.
  42. Weidemann F, Breunig F, Beer M, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study. Circulation. 2003;108(11):1299-1301.
  43. Desnick RJ. Enzyme replacement therapy for Fabry disease: Lessons from two alpha-galactosidase A orphan products and one FDA approval. Expert Opin Biol Ther. 2004;4(7):1167-1176.
  44. Mignani R, Cagnoli L. Enzyme replacement therapy in Fabry's disease: Recent advances and clinical applications. J Nephrol. 2004;17(3):354-363.
  45. Heitner R, Arndt S, Levin JB. Imiglucerase low-dose therapy for paediatric Gaucher disease--a long-term cohort study. S Afr Med J. 2004;94(8):647-651.
  46. Harmatz P, Whitley CB, Waber L, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr. 2004;144(5):574-580.
  47. Andersson HC, Charrow J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med. 2005;7(2):105-110.
  48. Grewal SS, Wynn R, Abdenur JE, et al. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med. 2005;7(2):143-146.
  49. Canadian Coordinating Office for Health Technology Assessment (CCOHTA). Laronidase. Emerging Drug List, No. 51. Ottawa, ON: CCOHTA; 2004. 
  50. BioMarin Pharmaceuticals Inc. Naglazyme (galsulfase) solution for intravenous infusion only. Full Prescribing Information. D0624-01P. Rev. 01. Novato, CA; BioMarin; June 2005. Available at: http://www.naglazyme.com/. Accessed August 9, 2005 
  51. Klinge L, Straub V, Neudorf U, et al. Enzyme replacement therapy in classical infantile pompe disease: results of a ten-month follow-up study. Neuropediatrics. 2005;36(1):6-11.
  52. Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord. 2005;15(1):24-31.
  53. Scheinfeld, NS. Lysosomal storage disease. eMedicine Pediatric Neurology Topic 668. Omaha, NE: eMedicine.com; updated February 14, 2005. Available at: http://www.emedicine.com/neuro/topic668.htm. Accessed May 5, 2006.
  54. Genzyme Corp. Myozyme (alglucosidase alfa). Prescribing Information. Cambridge, MA: Genzyme: April 2006. Available at: http://www.myozyme.com/PDF/mz_pi.pdf. Accessed May 5, 2006.
  55. U.S. Food and Drug Administration (FDA). FDA approves first treatment for Pompe disease. FDA News. Rockville, MD: FDA; April 28, 2006. Available at: http://www.fda.gov/bbs/topics/NEWS/2006/NEW01365.html. Accessed May 5, 2006.
  56. Connock M, Burls A, Frew E, et al. The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher’s disease: A systematic review. Health Technol Assess. 2006;10(24):1-152
  57. Tuschl K, Gal A, Paschke E, et al. Mucopolysaccharidosis type II in females: Case report and review of literature. Pediatr Neurol. 2005;32(4):270-272.
  58. U.S. Food and Drug Administration (FDA). FDA approves first treatment for Hunter syndrome. FDA News. P06-104. Rockville, MD: FDA; July 24, 2006. Available at: http://www.fda.gov/bbs/topics/NEWS/2006/NEW01418.html. Accessed August 2, 2006
  59. Shire Human Genetic Therapies, Inc. Elaprase (idursulfase) solution for intravenous infusion. Prescribing Information. Rev. 0. Cambridge, MA: Shire; revised July 2006. Available at: http://www.elaprase.com. Accessed August 3, 2006.
  60. National Horizon Scanning Centre (NHSC). Alpha glucosidase for people with Pompe's disease - horizon scanning review. Birmingham, UK: NHSC; 2002.
  61. Fischbacher C. Enzyme replacement therapy for Fabry's disease. STEER: Succint and Timely Evaluated Evidence Reviews. Bazian, Ltd., eds. London, UK: Wessex Institute for Health Research and Development, University of Southampton; 2003. 
  62. U.S. Food and Drug Administration. Product approval information -- laronidase (Aldurazyme). September 25, 2003. Available at: http://www.fda.gov/cder/foi/appletter/2003/larobio043003L.htm. Accessed June 5, 2007.
  63. Pichon Riviere A, Augustovski F, Cernadas C, et al. Replacement enzyme therapy in Fabry's disease. Report IRR No. 20. Buenos Aires, Argentina: Institute for Clinical Effectiveness and Health Policy (IECS); 2004.
  64. National Horizon Scanning Centre (NHSC). Arylsulfatase B for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) - horizon scanning review. Birmingham, UK: NHSC; 2005.
  65. National Horizon Scanning Centre (NHSC). Iduronate-2-sulfatase for Hunter syndrome - horizon scanning review. Birmingham, UK: NHSC; 2005.
  66. Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006;8(8):465-473.
  67. Connock M, Juarez-Garcia A, Frew E, et al. A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1. Health Technol Assess. 2006;10(20):1-130.
  68. Pichon Riviere A, Augustovski F, Alcaraz A, et al. Usefulness of alpha-glucosidase in Pompe disease. Report IRR No.92. Buenos Aires, Argentina: Institute for Clinical Effectiveness and Health Policy (IECS); 2006.
  69. van der Beek NA, Hagemans ML, van der Ploeg AT, et al. Pompe disease (glycogen storage disease type II): Clinical features and enzyme replacement therapy. Acta Neurol Belg. 2006;106(2):82-86.
  70. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: Major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68(2):99-109.
  71. Lidove O, Joly D, Barbey F, et al. Clinical results of enzyme replacement therapy in Fabry disease: A comprehensive review of literature. Int J Clin Pract. 2007;61(2):293-302.  

Codes

Number

Description

HCPCS

J0180 

Injection, agalsidase beta, 1 mg

  J0205 Injection, alglucerase, per 10 units
  J0220 Injection, alglucosidase alfa, 10 mg
  J1458 Injection, galsulfase, 1 mg
  J1743 Injection, idursulfase, 1 mg
  J1785 Injection, imiglucerase, per unit
  J1931 Injection, laronidase, 0.1 mg
  J3385 Injection, velaglucerase alfa, 100 units
  J3590 Unclassified biologics (use for alglucosidase alfa, 50mg)
  S9357 Home infusion therapy, enzyme replacement intravenous therapy; (e.g., Imiglucerase); administrative services, professional pharmacy services, care coordination, and all necessary supplies and equipment (drugs and nursing visits coded separately), per diem

ICD-9 Diagnosis 

271.0

Glycogenosis (Pompe disease, infantile onset only)

 

272.7

Lipidoses (Gaucher's diease) (Fabry disease)

 

277.5 

Mucopolysaccharidosis (MPS VI)
  280.0-285.9 Anemia
  287.30-287.5 Primary, secondary and unspecified thrombocyopenia
  571.8 other chronic nonalcoholic liver disease
  733.90 Disorder of bone and cartilage, unspecified
  780.79 other malaise and fatigue
  789.00-789.09 Abdominal pain
  789.0 Hepatomegaly
  789.2 Splenomegaly
  799.4 Cachexia

 


Policy History

Date

Action

Reason

04/09/2008

Add to Prescription Drug section

New policy

5/31/11   updated policy with Lumizyme and VPRIV indications