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Pompe

By the Time Pompe Disease Slows Them Down, the Damage Has Already Begun2–4

Diagnose and manage Pompe disease early to help your patients stay ahead of their disease2–4

Pompe Disease is a Life-threatening, Progressive Neuromuscular Disorder That Causes Irreversible Muscle Damage1–4

Pompe disease, also referred to as acid maltase deficiency or glycogen storage disease type II (GSDII), is an underrecognized, inherited multisystemic disorder that causes progressive muscle damage, profound disability and premature death.1,4,5
For patients, Pompe disease means progressive respiratory and muscle complications, as well as life-limiting burden.4

Pompe disease is heterogeneous, with varying ages of onset and rates of progression4,6

IOPD   LOPD
Infantile-onset Pompe disease PREVALENCE
1 in 40,000
for all forms
of Pompe disease1†		 Late-onset Pompe disease
1 in 138,000 people7* 1 in 57,000 people7*
Within the first year of life5 Presentation At any point during childhood or adulthood5
Rapidly progressive and, if left unmanaged, results in death by 2 years of age, most commonly due to cardiorespiratory failure3 Progression Steadily progressive and can result in premature death, most commonly due to respiratory failure5

Diagnose and manage Pompe disease early to help reduce patient burden4,6,8

*Estimates based on studies from The Netherlands. No prevalence studies have been performed in Canada.
†Based on one study in a New York population.

Pathophysiology behind the Burden of Disease

Pompe disease is caused by a deficiency of acid α-glucosidase (GAA) enzyme activity, resulting in uncontrolled and progressive lysosomal glycogen accumulation in muscle cells throughout the body1,3,4

  • In patients that present with Pompe disease before 1 year of age (infantile-onset), GAA enzyme activity may be completely missing; and if some activity remains, it is usually <1% of normal5

Uncontrolled glycogen accumulation causes lysosomes to swell and rupture, resulting in1

  • Irreversible cellular damage6,10
  • Progressive destruction of skeletal muscle (including respiratory musculature), cardiac muscle and smooth muscle9,10
  • Debilitating respiratory, motor, musculoskeletal, cardiac, bulbar, and gastrointestinal (GI) muscular manifestations3,9,13–15

Diagnostic and treatment delays result in unchecked disease progression leading to respiratory complications, muscle damage, life-altering burden and/or death2,16

Patients with Pompe Disease often Face Delayed Diagnosis1

  • Delayed diagnosis can lead to significant muscle tissue deterioration, diminished physical function and premature death2,17

  • The median delay to definitive diagnosis for patients with LOPD can be as much as 7 years18,19

Deficient GAA enzyme activity leads to progressive muscle damage and multisystemic manifestations1,3-5

Patients with Pompe disease most often present with signs of motor and Respiratory Impairment 4,14,15

  • 77% of patients with LOPD present with both exercise intolerance and limb-girdle muscle weakness15
  • 55% of patients with LOPD present with both respiratory insufficiency and limb-girdle muscle weakness15

IOPD Symptoms present in early infancy and progress rapidly, typically leading to death by 2 years of age. Manifestations most commonly include cardiomyopathy, hypotonia, muscle weakness, respiratory distress, feeding difficulties, and failure to thrive4,5,20

LOPD can manifest in many different parts of the body

Test early for Pompe disease if you spot these common signs or symptoms in your practice1

Proximal Muscle weakness, the most common presentation in LOPD, makes everyday activities a Challenge for Patients 30

80% of patients with LOPD report experiencing problems with daily tasks due to loss of muscle strength and function22*‡
In patients with LOPD, ongoing and progressive loss of muscle function can lead to life-limiting consequences. At the time of diagnosis:16*

  • 50% of patients have difficulty getting up from a chair
  • Nearly 50% of patients experience limitations in their ability to work or study
  • More than 20% of patients are wheelchair bound and/or require respiratory support

Respiratory Insufficiency is a Cardinal feature of LOPD and the Primary cause of mortality 31

Patients with LOPD who experienced difficulty with tasks at the time of diagnosis 16*†

  • Respiratory dysfunction can be the first symptom and may present without overt motor symptoms25
    • Symptoms of respiratory insufficiency are the primary presenting symptom in about one-third of LOPD cases25
    • Respiratory failure can occur while patients with Pompe disease are still ambulatory4
  • Respiratory dysfunction can be present early in the disease course, even when respiratory symptoms are not the initial symptom25,32
    • A decrease in FVC is an early sign of respiratory impairment in Pompe disease25
    • 4 of 6 patients (67%) showed reduced FVC at diagnosis despite lack of respiratory symptoms32
  • Progressive diaphragm weakness is the major cause of respiratory dysfunction in LOPD31

FVC=forced vital capacity.

Average respiratory function—measured by FVC—at study entry was 61%, reflecting moderate restrictive lung disease33

  • Respiratory function declined consistently, including a 2.3% decline after 12 months and a 6.2% decline after 48 months33
  • Respiratory function is often diminished in the early stages of LOPD, prior to diagnosis, and continues to decline over time4,33

The most common cause of death among patients with symptom onset at >12 months of age, reported in the Pompe registry, was respiratory in nature (40.9%) 34

*Based on a meta-analysis of 19 studies of patients with LOPD. Continuous outcomes were modeled using fractional polynomial meta-analysis, which estimates the development of outcomes over time.33

The Differential Diagnosis for Pompe Disease 4

Include Pompe disease in your differential alongside these other diseases