Highmark Commercial Medical Policy - Pennsylvania

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Medical Policy: I-58-020
Topic: Alglucosidase alfa (Lumizyme)
Section: Injections
Effective Date: May 28, 2018
Issue Date: May 28, 2018
Last Reviewed: February 2018

Pompe disease (glycogen storage disease type II, GSDII, glycogenosis type II, acid maltase deficiency) is an inherited disorder of glycogen metabolism caused by the absence or marked deficiency of the lysosomal enzyme GAA.

In the late onset forms infantile-onset form, Pompe disease results in intralysosomal accumulation of glycogen in various tissues, particularly cardiac and skeletal muscles, and hepatic tissues, leading to the development of cardiomyopathy, progressive muscle weakness, and impairment of respiratory function.

In the juvenile and adult-onset forms, intralysosomal accumulation of glycogen is limited primarily to skeletal muscle, resulting in progressive muscle weakness.

This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.

Policy Position Coverage is subject to the specific terms of the member’s benefit plan.

Alglucosidase alfa (Lumizyme) may be considered medically necessary in individuals with infant-onset Pompe disease (GAA deficiency) when ALL of the following are met:

  • Confirmed diagnosis of infantile-onset Pompe disease with acid alpha-glucosidase deficiency (GAA) activity in skin fibroblasts of less than 1% of the normal mean (complete deficiency) associated with classic infantile onset Pompe disease; or a partial deficiency (2% to 40% of normal controls) of GAA enzyme activity associated with the non-classic infantile onset and late onset forms; or 
  • GAA gene sequencing; and
  • Respiratory insufficiency and/or skeletal muscle weakness; or
  • Evidence of hypertrophic cardiomyopathy.

The use of alglucosidase alfa for any other indication is considered experimental/investigational, and therefore, non-covered. Scientific evidence does not support the use of Lumizyme for any other indication.

Procedure Codes

Alglucosidase alfa (Lumizyme) may also be considered medically necessary for individuals with juvenile and late-onset Pompe disease (GAA deficiency) when ALL of the following are met:

  • Diagnosis of Pompe disease based on:
    • GAA enzyme assay which shows reduced enzyme activity 2% to 40% partial deficiency of GAA non-classic infantile forms or late onset forms) of the lab specific normal mean value; and
    • Confirmed by a second GAA enzyme activity assay in a separate sample (from purified lymphocytes or fibroblast [minimally invasive test] or muscle, [ invasive testing]) or by a GAA gene sequencing; and
    • One or more  clinical symptoms of Pompe disease are present such as: progressive muscle weakness, respiratory insufficiency is present.  (not an all-inclusive list).

The use of alglucosidase alfa for any other indication is considered experimental/investigational, and therefore, non-covered. Scientific evidence does not support the use  of Lumizyme for any other indication.

Procedure Codes

Dosage recommendations per the FDA label.

Myozyme is no longer available in the United States (U.S).

Place of Service: Outpatient

Experimental/Investigational (E/I) services are not covered regardless of place of service.

The administration of Alglucosidase alfa (Lumizyme®) is typically an outpatient procedure which is only eligible for coverage as an inpatient procedure in special circumstances, including, but not limited to, the presence of a co-morbid condition that would require monitoring in a more controlled environment such as the inpatient setting.

The policy position applies to all commercial lines of business

Denial Statements

Services that do not meet the criteria of this policy will be considered experimental/investigational (E/I). A network provider can bill the member for the experimental/investigational service. The provider must give advance written notice informing the member that the service has been deemed E/I. The member must be provided with an estimate of the cost and the member must agree in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.


Medical policies do not constitute medical advice, nor are they intended to govern the practice of medicine. They are intended to reflect Highmark's reimbursement and coverage guidelines. Coverage for services may vary for individual members, based on the terms of the benefit contract.

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The Claims Administrator/Insurer complies with applicable Federal civil rights laws and does not discriminate on the basis of race, color, national origin, age, disability, or sex. The Claims Administrator/Insurer does not exclude people or treat them differently because of race, color, national origin, age, disability, or sex. The Claims Administrator/ Insurer:
  • Provides free aids and services to people with disabilities to communicate effectively with us, such as:
    • Qualified sign language interpreters
    • Written information in other formats (large print, audio, accessible electronic formats, other formats)
  • Provides free language services to people whose primary language is not English, such as:
    • Qualified interpreters
    • Information written in other languages
If you need these services, contact the Civil Rights Coordinator.

If you believe that the Claims Administrator/Insurer has failed to provide these services or discriminated in another way on the basis of race, color, national origin, age, disability, or sex, you can file a grievance with: Civil Rights Coordinator, P.O. Box 22492, Pittsburgh, PA 15222, Phone: 1-866-286-8295, TTY: 711, Fax: 412-544-2475, email: CivilRightsCoordinator@highmarkhealth.org. You can file a grievance in person or by mail, fax, or email. If you need help filing a grievance, the Civil Rights Coordinator is available to help you.

You can also file a civil rights complaint with the U.S. Department of Health and Human Services, Office for Civil Rights electronically through the Office for Civil Rights Complaint Portal, available at https://ocrportal.hhs.gov/ocr/portal/lobby.jsf, or by mail or phone at:

U.S. Department of Health and Human Services
200 Independence Avenue, SW
Room 509F, HHH Building
Washington, D.C. 20201
1-800-368-1019, 800-537-7697 (TDD)

Complaint forms are available at http://www.hhs.gov/ocr/office/file/index.html.

Insurance or benefit/claims administration may be provided by Highmark, Highmark Choice Company, Highmark Coverage Advantage, Highmark Health Insurance Company, First Priority Life Insurance Company, First Priority Health, Highmark Benefits Group, Highmark Select Resources, Highmark Senior Solutions Company or Highmark Senior Health Company, all of which are independent licensees of the Blue Cross and Blue Shield Association, an association of independent Blue Cross and Blue Shield plans.

Highmark retains the right to review and update its medical policy guidelines at its sole discretion. These guidelines are the proprietary information of Highmark. Any sale, copying or dissemination of the medical policies is prohibited; however, limited copying of medical policies is permitted for individual use.

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