LOPD: Treatment landscape

About LOPD

Pompe disease is a rare, inherited, degenerative muscle disease that presents with a clinical spectrum of disease manifestations.^1,2 The estimated incidence of all Pompe is ~2.5 per 100,000.^3,4 LOPD is one of the 2 subclassifications of Pompe disease.^3,5

All lysosomal storage disorders (LSDs)
(~50 identified)

Incidence:
~12.5/100,000 live births⁶

Pompe disease

Estimated incidence:

~2.5/100,000^3,4

LOPD characteristics

Map with a pie chart indicating LOPD affects ~75% of patients with Pompe in the United States.

LOPD is the more common form of
Pompe, affecting ~75% of patients
with Pompe in the United States⁷

Symptom onset can occur
at any time between
infancy and adulthood^3,5

LOPD is typically characterized
by slower progression that may
initially be milder than infantile-
onset Pompe disease (IOPD), the
other subtype of Pompe disease^3,5

The severity of LOPD increases over time. LOPD generally has ~1% to 40% of normal† acid alpha-glucosidase (GAA) activity.^3,5

†Actual GAA activity reference ranges are lab specific.

Pompe mechanism of disease

Understanding the way a disease impacts the body can help inform how to target the underlying cause of a disease.

For Pompe disease, pathogenic variants in the GAA gene cause deficiencies in enzyme activity of acid alpha-glucosidase.⁸

Illustration based on Thurberg BL, et al. Lab Invest. 2006;86(12):1208-1220.

Accumulation of glycogen can impact muscles that affect mobility, functional endurance, and breathing.^1,2,9,10

Symptoms of LOPD

Pompe is a debilitating disease, and tissue damage can be irreversible^3,11

Proximal muscle weakness³

13% per-year increased risk
of wheelchair dependency after diagnosis¹²

Respiratory muscle weakness¹³

8% per-year increased risk of ventilator
dependency after diagnosis¹²

Disease management

Management of Pompe disease is individualized based on patient needs. Enzyme replacement therapy (ERT) has been the standard of care since 2010.¹⁴

Ventilation, respiratory muscle training, physical therapy, breath training, nutrition, immunizations, and other approaches may all be part of the management plan.¹⁵

Coordination between different medical teams, such as neurology, genetics, pulmonology, gastroenterology, and cardiology, can be crucial for proper management.⁸

In March 2015, Pompe disease was added to the Recommended Uniform Screening Panel (RUSP). Since then, a number of states have added Pompe disease to their slate of diseases for their Newborn Screening (NBS) programs. As of May 2024, 44 states (plus the District of Columbia) have instituted NBS programs for Pompe disease.⁸

A look at the clinical trial

Discover how NEXVIAZYME, which was studied in the first pivotal, head-to-head ERT clinical trial in LOPD,^16,17may benefit your appropriate members.

Learn more

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References: 1. Chan J, Desai AK, Kazi ZB, et al. The emerging phenotype of late-onset Pompe disease: a systematic literature review. Mol Genet Metab. 2017;120(3):163-172. doi:10.1016/j.ymgme.2016.12.004 2. Kishnani PS, Amartino HM, Lindberg C, et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe Registry. Am J Med Genet A. 2013;161A(10):2431-2443. doi:10.1002/ajmg.a.36110 3. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-288. doi:10.1097/01.gim.0000218152.87434.f3 4. Dasouki M, Jawdat O, Almadhoun O, et al. Pompe disease: literature review and case series. Neurol Clin. 2014;32(3):751-776, ix. doi:10.1016/j.ncl.2014.04.010 5. American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40(1):149-160. doi:10.1002/mus.21393 6. Xu M, Motabar O, Ferrer M, et al. Disease models for the development of therapies for lysosomal storage diseases. Ann N Y Acad Sci. 2016;1371(1):15-29. doi:10.1111/nyas.13052 7. Data on file. Sanofi. 2022. 8. Stevens D, Milani-Nejad S, Mozaffar T. Pompe disease: a clinical, diagnostic, and therapeutic overview. Curr Treat Options Neurol. 2022;24(11):573-588. doi:10.1007/s11940-022-00736-1 9. Thurberg BL, Maloney CL, Vaccaro C, et al. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest. 2006;86(12):1208-1220. doi:10.1038/labinvest.3700484 10. Raben N, Ralston E, Chien YH, et al. Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy. Mol Genet Metab. 2010;101(4):324-331. doi:10.1016/j.ymgme.2010.08.001 11. Toscano A, Rodolico C, Musumeci O. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Ann Transl Med. 2019;7(13):284. doi:10.21037/atm.2019.07.24 12. Hagemans MLC, Winkel LPF, Hop WCJ, Reuser AJJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005;64(12):2139-2141. doi:10.1212/01.WNL.0000165979.46537.56 13. Fuller DD, ElMallah MK, Smith BK, et al. The respiratory neuromuscular system in Pompe disease. Respir Physio Neurobiol. 2013;189(2):241-249. doi:10.1016/j.resp.2013.06.007 14. Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45(3):319-333. doi:10.1002/mus.22329 15. Boentert M, Prigent H, Várdi K, et al. Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease. Int J Mol Sci. 2016;17(10):1735. doi:10.3390/ijms17101735 16. Straub V, Kishnani PS, Diaz-Manera J, et al. Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial. Poster presented at: Muscular Dystrophy Association Clinical & Scientific Conference; March 19-22, 2023; Dallas, TX. Poster 143. 17. NEXVIAZYME (avalglucosidase alfa). Prescribing information. Genzyme Corporation; 2021.

INDICATION

NEXVIAZYME (avalglucosidase alfa-ngpt) is indicated for the treatment of patients 1 year of age and older with late- onset Pompe disease [lysosomal acid alpha-glucosidase (GAA) deficiency].

Please see full Prescribing Information for complete details, including Boxed WARNING.

IMPORTANT SAFETY INFORMATION

WARNING: SEVERE HYPERSENSITIVITY REACTIONS, INFUSION-ASSOCIATED REACTIONS, and RISK OF ACUTE CARDIORESPIRATORY FAILURE IN SUSCEPTIBLE PATIENTS

Hypersensitivity Reactions including Anaphylaxis

Patients treated with NEXVIAZYME have experienced life-threatening hypersensitivity reactions, including anaphylaxis. Appropriate medical support measures, including cardiopulmonary resuscitation equipment, should be readily available during NEXVIAZYME administration. If a severe hypersensitivity reaction (e.g., anaphylaxis) occurs, NEXVIAZYME should be discontinued immediately and appropriate medical treatment should be initiated. In patients with severe hypersensitivity reaction, a desensitization procedure to NEXVIAZYME may be considered.

Infusion-Associated Reactions (IARs)

Patients treated with NEXVIAZYME have experienced severe IARs. If severe IARs occur, consider immediate discontinuation of NEXVIAZYME, initiation of appropriate medical treatment, and the benefits and risks of readministering NEXVIAZYME following severe IARs. Patients with an acute underlying illness at the time of NEXVIAZYME infusion may be at greater risk for IARs. Patients with advanced Pompe disease may have compromised cardiac and respiratory function, which may predispose them to a higher risk of severe complications from IARs.

Risk of Acute Cardiorespiratory Failure in Susceptible Patients

Patients susceptible to fluid volume overload, or those with acute underlying respiratory illness or compromised cardiac or respiratory function for whom fluid restriction is indicated may be at risk of serious exacerbation of their cardiac or respiratory status during NEXVIAZYME infusion. More frequent monitoring of vitals should be performed during NEXVIAZYME infusion.

WARNINGS AND PRECAUTIONS

Hypersensitivity Reactions Including Anaphylaxis: See Boxed WARNING. Prior to NEXVIAZYME administration, consider pretreating with antihistamines, antipyretics, and/or corticosteroids. The risks and benefits of readministering NEXVIAZYME following severe hypersensitivity reaction (including anaphylaxis) should be considered. If a mild or moderate hypersensitivity reaction occurs, the infusion rate may be slowed or temporarily stopped.

Infusion-Associated Reactions: See Boxed WARNING. IARs may still occur in patients after receiving pretreatment. If mild or moderate IARs occur regardless of pretreatment, decreasing the infusion rate or temporarily stopping the infusion may ameliorate the symptoms.

Risk of Acute Cardiorespiratory Failure in Susceptible Patients: See Boxed WARNING.

ADVERSE REACTIONS

The most common adverse reactions (>5%) were headache, fatigue, diarrhea, nausea, arthralgia, dizziness, myalgia, pruritus, vomiting, dyspnea, erythema, paresthesia and urticaria.

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LOPD: Treatment landscape