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Table 65: Enzyme and Metabolic Disorder Therapies


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Drug Category: Endocrine and Metabolic Agents

Medication Class/Individual Agents: Enzyme and Metabolic Disorder Therapies

I. Prior-Authorization Requirements

 Enzyme and Metabolic Disorder Therapies – Injectable Agents

Clinical Notes

Drug Details

Drug Generic Name

Drug Brand Name

PA
Status

Drug
Notes

agalsidase beta Fabrazyme PA  
alglucosidase alfa Lumizyme PA  
asfotase alfa Strensiq PA  
elapegademase-lvlr Revcovi PA  
elosulfase alfa Vimizim PA  
galsulfase Naglazyme PA  
idursulfase Elaprase PA  
imiglucerase Cerezyme PA  
laronidase Aldurazyme PA  
pegvaliase-pqpz Palynziq PA  
taliglucerase alfa Elelyso PA  
velaglucerase alfa Vpriv PA  
vestronidase alfa-vjbk Mepsevii PA  

Please note: In the case where the prior authorization (PA) status column indicates PA, both the brand and generic (if available) require PA. Typically, the generic is preferred when available unless the brand-name drug appears on the MassHealth Brand Name Preferred Over Generic Drug List. In general, when requesting the non-preferred version, whether the brand or generic, the prescriber must provide medical records documenting an inadequate response or adverse reaction to the preferred version, in addition to satisfying the criteria for the drug itself.

  • Lysosomal storage disorders are caused by a deficiency or absence of required enzymes. The consequence is an accumulation of compounds that are normally degraded, causing cell and organ dysfunction. Before the development of enzyme replacement therapy, management of these conditions consisted of supportive care and treatment of the complications.
  • A number of exogenously supplied enzymes are available for lysosomal storage disorders, including adenosine deaminase (ADA) deficiency, Gaucher disease, Fabry disease, Hunter syndrome, hyperammonemia due to the deficiency of the hepatic enzyme N-acetylglutamate synthetase, hypophosphatasia, lysosomal acid lipase deficiency, mucopolysaccharidosis type I, IVA, VI, and VII, and Pompe disease.
  • Pancreatic enzyme replacement is indicated for the treatment of exocrine pancreatic insufficiency due to cystic fibrosis or other conditions. Multiple formulations of pancreatic enzymes exist with different combinations of lipase, protease, and amylase; however, these enzymes may differ in their effects. Patients should be reevaluated after any changes in enzyme preparation or dose.
  • Molybdenum cofactor deficiency (MoCD) is a rare genetic disorder that results from one of several single gene defects in the biosynthetic pathway of molybdenum cofactor. About two-thirds of patients have MoCD type A, which involves mutations in molybdenum cofactor synthesis gene 1 (MOSC1). Prior to the approval of fosdenopterin, the only available treatment options included supportive care and therapies directed towards complications arising from the disease. 
 

 Enzyme and Metabolic Disorder Therapies – Oral Agents

Drug Details

Drug Generic Name

Drug Brand Name

PA
Status

Drug
Notes

carglumic acid Carbaglu PA  
glycerol phenylbutyrate Ravicti PA  
migalastat Galafold PA  
pancrelipase-Creon DR Creon DR test  
pancrelipase-Pancreaze DR Pancreaze DR test  
pancrelipase-Pertzye DR Pertzye DR test  
pancrelipase-Viokace Viokace test  
pancrelipase-Zenpep DR Zenpep DR test  
sapropterin Kuvan PA  
triheptanoin Dojolvi PA  

 Enzyme and Metabolic Disorder Therapies – Substrate Replacement/Reduction Therapies

Drug Details

Drug Generic Name

Drug Brand Name

PA
Status

Drug
Notes

eliglustat Cerdelga PA  
fosdenopterin Nulibry PA  
miglustat Zavesca PA   BP
sebelipase alfa Kanuma PA  
Table Footnotes
BP Brand Preferred over generic equivalents. In general, MassHealth requires a trial of the preferred drug or clinical rationale for prescribing the non-preferred drug generic equivalent.
 

II. Therapeutic Uses

FDA-approved, for example: 

  • Adenosine deaminase severe combined immunodeficiency (ADA-SCID) (Revcovi)
  • Fabry disease (Fabrazyme, Galafold)
  • Gaucher Disease Type 1 (Cerdelga, Cerezyme, Elelyso, miglustat, Vpriv)
  • Hunter Syndrome (Elaprase)
  • Hyperammonemia due to the deficiency of the hepatic enzyme N-acetylglutamate synthetase (NAGS) (Carbaglu)
  • Hyperammonemia due to propionic aciduria (PA) or methylmalonic aciduria (MMA) (Carbaglu)
  • Hypophosphatasia (Strensiq)
  • Long-chain fatty acid oxidation disorders (LC-FAOD) (Dojolvi)
  • Lysosomal acid lipase deficiency (Kanuma)
  • Molybdenum cofactor deficiency (MoCD) Type A (Nulibry)
  • Mucopolysaccharidosis I (Aldurazyme)
  • Mucopolysaccharidosis IVA (Morquio A syndrome) (Vimizim)
  • Mucopolysaccharidosis VI (Naglazyme)
  • Mucopolysaccharidosis VII (Sly syndrome) (Mepsevii)
  • Phenylketonuria (Palynziq, sapropterin)
  • Pompe disease (Lumizyme)
  • Urea cycle disorder (Ravicti)

Note: The above list may not include all FDA-approved indications.

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III.  Evaluation Criteria for Approval

Please note: In the case where the prior authorization (PA) status column indicates PA, both the brand and generic (if available) require PA. Typically, the generic is preferred when available unless the brand-name drug appears on the MassHealth Brand Name Preferred Over Generic Drug List. In general, when requesting the non-preferred version, whether the brand or generic, the prescriber must provide medical records documenting an inadequate response or adverse reaction to the preferred version, in addition to satisfying the criteria for the drug itself.

  • All PA requests must include clinical diagnosis, drug name, dose, and frequency.
  • A preferred drug may be designated for this therapeutic class. In general, MassHealth requires a trial of the preferred drug or clinical rationale for prescribing a non-preferred drug within a therapeutic class. Additional information about these agents, including PA requirements and preferred products, can be found within the MassHealth Drug List at www.mass.gov/druglist.
  • For recertification requests, approval may require submission of additional documentation including, but not limited to, documentation of: some or all criteria for the original approval; response to therapy; clinical rationale for continuation of use; status of member’s condition; appropriate diagnosis; appropriate age; appropriate dose, frequency, and duration of use for requested medication; complete treatment plan; current laboratory values; and member’s current weight.
  • Additional criteria may apply, depending upon the member’s condition and requested medication (see below).

      

Aldurazyme

  • Documentation of all of the following is required:
    • appropriate diagnosis; and
    • results from genetic testing showing mutations in IDUA gene or an enzyme assay test showing reduced lysosomal alpha-L-iduronidase activity in peripheral blood leukocytes, plasma, or cultured fibroblasts; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

Carbaglu

  • Documentation of all of the following is required for hyperammonemia due to NAGS deficiency:
    • appropriate diagnosis; and
    • appropriate dosing; and
    • results from genetic test or an enzyme assay test supporting the diagnosis.
  • Documentation of all of the following is required for hyperammonemia due to PA or MMA:
    • appropriate diagnosis; and
    • appropriate dosing; and
    • results from genetic testing, medical records, or lab results supporting the diagnosis; and 
    • elevated ammonia levels > 60 μmol/L.

Cerdelga

  • Documentation of all of the following is required:
    • appropriate diagnosis; and
    • member is ≥ 18 years of age; and
    • results from enzyme assay test showing reduced activity of glucocerebrosidase; and
    • member is not currently receiving enzyme replacement therapy.

Cerezyme and Vpriv

  • Documentation of all of the following is required:
    • appropriate diagnosis; and
    • results from genetic test confirming mutation in GBA gene or an enzyme assay test showing reduced activity of the enzyme glucocerebrosidase; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

Dojolvi

  • Documentation of all of the following is required: 
    • diagnosis of long-chain fatty acid oxidation disorders (LC-FAOD); and
    • results from genetic testing or molecular analysis to confirm diagnosis (e.g., CPT I or II, LCHAD, TFP, VLCAD deficiency); and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • documentation of a trial with a diet consisting of low-fat, high-carbohydrates, and avoidance of fasting; and
    • member's current caloric intake.

Elaprase

  • Documentation of all of the following is required: 
    • appropriate diagnosis; and
    • results from genetic testing confirming mutation in IDS gene or iduronate-2-sulfatase assay test showing reduced or absent activity in the serum, white blood cells, or fibroblasts; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

Elelyso

  • Documentation of all of the following is required: 
    • appropriate diagnosis; and
    • results from genetic test confirming mutation in GBA gene or an enzyme assay test showing reduced activity of the enzyme glucocerebrosidase; and
    • member is ≥ 18 years of age; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

Fabrazyme

  • Documentation of all of the following is required: 
    • appropriate diagnosis; and
    • one of the following:
      • results from an enzyme assay test showing reduced or absent α-galactosidase A (α-GAL) enzyme activity in plasma, leukocytes, tears, or biopsied tissue; or
      • Genetic testing confirming mutation in GAL gene; or
      • Biomarker demonstrating an increase in Gb3 concentration; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

Galafold

  • Documentation of all of the following is required: 
    • appropriate diagnosis; and
    • member is ≥ 18 years of age; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • results from an enzyme assay test showing reduced or absent α-galactosidase A (α-GAL) enzyme activity in plasma, leukocytes, tears, or biopsied tissue; and
    • member has GLA variants which are amenable to treatment with the requested agent; and
    • request is within quantity limit of 15 units/30 days.

Kanuma

  • Documentation of all of the following is required:
    • diagnosis of lysosomal acid lipase deficiency; and
    • one of the following:
      • lab assay documenting low lysosomal acid lipase activity
      • genetic testing confirming full or partial loss of LAL gene
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

Lumizyme

  • Documentation of all of the following is required: 
    • appropriate diagnosis; and
    • one of the following:
      • results from acid maltase enzyme alpha-glucosidase (GAA) assay test showing reduced or absent activity from cultured skin fibroblasts; or
      • lymphocyte testing; or
      • blood spot assay; or
      • genetic testing confirming mutation in GAA gene; or
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

Mepsevii

  • Documentation of all of the following is required: 
    • appropriate diagnosis; and
    • results from genetic testing showing mutations in the beta glucuronidase gene; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

miglustat

  • Documentation of all of the following is required:
    • appropriate diagnosis; and
    • member is ≥ 18 years of age; and
    • results from enzyme assay test showing reduced activity of glucocerebrosidase; and
    • contraindication to enzyme replacement therapy.

Naglazyme

  • Documentation of all of the following is required: 
    • appropriate diagnosis; and
    • results from an enzyme assay test showing reduced arylsulfatase B (ASB) enzyme activity in leukocytes or fibroblasts along with elevated urine glycosaminoglycan (GAG) levels; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.
     

Nulibry

  • Documentation of all of the following is required:
    • appropriate diagnosis confirmed by genetic testing; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • appropriate dosing; and
    • member's current weight.

Palynziq

  • Documentation of all of the following is required:
    • appropriate diagnosis; and
    • member is ≥ 18 years of age; and
    • results from genetic testing or molecular analysis to confirm diagnosis; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • blood phenylalanine concentrations > 600 micromol/L; and
    • medication will be used in conjunction with a phenylalanine-restricted diet; and
    • inadequate response, adverse reaction, or contraindication to sapropterin.

Ravicti

  • Documentation of all of the following is required:
    • appropriate diagnosis; and
    • results from genetic test or an enzyme assay test supporting the diagnosis; and
    • appropriate dosing; and
    • inadequate response, adverse reaction, or contraindication to sodium phenylbutyrate.

Revcovi

  • Documentation of all of the following is required:
    • appropriate diagnosis; and
    • laboratory results documenting one of the following:
      • absent ADA enzymatic activity in lysed erythrocytes; or 
      • elevated levels of adenosine and deoxyadenosine in the urine and plasma; or 
      • a marked increase in deoxyadenosine triphosphate (dATP) levels in erythrocyte lysates; or 
      • a significant decrease in ATP concentration in red blood cells; or 
      • absent or extremely low levels of N adenosylhomocysteine hydrolase in red blood cells; or 
      • severe T cell deficiency manifested by lymphopenia and poor T cell responses to mitogens and antigens; or 
      • absent thymic shadow on chest radiograph; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

sapropterin

  • Documentation of all of the following is required:
    • appropriate diagnosisand
    • results from molecular analysis to confirm diagnosis; and
    • documentation that medication will be used in conjunction with a phenylalanine-restricted diet; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

Strensiq

  • Documentation of all of the following is required:
    • diagnosis of perinatal-onset, infantile-onset, or juvenile-onset hypophosphatasia; and
    • genetic testing confirming mutation in ALPL gene; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.

Vimizim

  • Documentation of all of the following is required:
    • appropriate diagnosis; and
    • member is ≥ five years of age; and
    • results from an enzyme assay test showing reduced N-acetylgalactosamine-6-sulfatase activity in blood and/or skin cells; and
    • prescriber is a specialist in genetic or metabolic diseases or consult is provided; and
    • member's current weight.


Original Effective Date: 11/2012

Last Revised Date: 08/2021


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Last updated 10/25/21

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