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| Disease found: | Pompe Disease |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | lysosomal storage disorder resulting in glycogen accumulation in lysosomes; most heavily affects muscle of all types [more info] |
| Signs and Symptoms: | Infantile form: failure to thrive, hypotonia, cardiomegaly, breathing trouble; all within first few months of life. [more info] Late-onset form: symmetric limb-girdle muscle weakness, heart usually spared; variable age of presentation [more info] |
| Diagnosis: | Blood test to assess enzymatic acticity of acid alpha-glucosidase (GAA). Dried bloodspot testing if local assay not available. [LabCorp ID] Positive tests are recommended to be confirmed with skin biopsy. Note that as of 2021, 22 US states test newborns for Pompe disease [more info] |
| Treatment: | Enzyme replacement therapy with alglucosidase alfa (Lumizyme). Newer ERT formulations have not been found to be superior. |
| Clinical Management: | Chest x-ray, EKG, echocardiogram, and pulmonary function tests are recommended evaluations. Patients may respond poorly to: digoxin, ionotropes, afterload-reducing agents; these should be avoided unless recommended by an expert late in the disease course. Pregnancy is not contraindicated in adults but may require closer respiratory and cardiac monitoring. Low threshold to initiate CPAP, BiPAP, or even tracheostomy in the setting of respiratory distress. Patients typically are at higher risk for swallowing dysfunction and may require tube feeds for safety. Physical, occupational, and speech therapy should be involved early [more]. Regular pulmonary function testing, screening for cardiac hypertrophy, and renal function tests. Physical therapy to maximize muscle function. Consider for enzyme-replacement therapy. Children need more frequent assessments for nutrition assistance and development monitoring. Support org: AMDA |
| Referral: | Pediatric geneticist should be included as part of a multidisciplinary care team. Most large academic medical centers have pediatric geneticists who treat inborn errors of metabolism. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | There are several registries and clinical trials actively recruiting patients. |