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Pompe disease
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles
Prevalence
2.5/100,000
8,275
US Estimated
12,838
Europe Estimated
Age of Onset
ICD-10
E74.810
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
It is caused by mutations in the GAA gene that encodes acid alpha-glucosidase (GAA), an enzyme responsible for breaking down glycogen
FACT
It is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective genes, one from each parent, to develop the disease
FACT
The absence or deficiency of GAA leads to accumulation of glycogen in the lysosomes of cells, particularly in muscle tissue
FACT
Pompe disease has a wide spectrum, with forms ranging from the severe infantile-onset, which is rapidly progressive, to a less severe late-onset form
FACT
Genetic testing can identify mutations in the GAA gene, which confirms the diagnosis and is useful for family studies
Interest over time
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Common signs & symptoms
Oligosacchariduria
Progressive proximal muscle weakness
Areflexia
Cardiomegaly
Difficulty climbing stairs
Elevated serum alanine aminotransferase
Current treatments
Individuals with glycogen storage disease type 2 are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care.
Recombinant human acid alpha-glucosidase; alglucosidase alfa(Brand name: Lumizyme) Manufactured by Genzyme Corporation
FDA-approved indication: Lumizyme for patients 8 years and older with late (non-infantile) onset Pompe disease (GAA deficiency) who do not have evidence of cardiac hypertrophy. The safety and efficacy of Lumizyme (alglucosidase alfa) have not been evaluated in controlled clinical trials in infantile-onset patients, or in late (non-infantile) onset patients less than 8 years of age
Recombinant human acid alpha-glucosidase(Brand name: Myozyme®) Manufactured by Genzyme Corporation
FDA-approved indication: For use in patients with Pompe disease (GAA deficiency). Alglucosidase alfa has been shown to improve ventilator-free survival in patients with infantile onset Pompe disease as compared to an untreated historical control, whereas use of Alphaglucosidase in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy
Top Clinical Trials
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD | This is a Phase 3, open-label, multicenter study to evaluate the safety, PK, efficacy, PD, and immunogenicity of Cipaglucosidase Alfa/Miglustat treatment in enzyme replacement therapy (ERT)-experienced and ERT-naïve pediatric subjects with Pompe disease, aged 0 to \< 18 years | PHASE3 | RECRUITING | BIOLOGICAL: Cipaglucosidase Alfa|DRUG: Miglustat | More info |
| Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa | This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD. | PHASE3 | RECRUITING | DRUG: avalglucosidase alfa | More info |
| A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18 | This is a Phase 3, open-label, multicenter study to evaluate the safety, efficacy, PK, PD, and immunogenicity of cipaglucosidase alfa/miglustat treatment in ERT-experienced and ERT-naïve pediatric subjects with IOPD. | PHASE3 | RECRUITING | BIOLOGICAL: Cipaglucosidase alfa|DRUG: Miglustat | More info |