Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement.
Clear safety thresholds for enzyme replacement therapy in Pompe disease enable doctors to monitor stability and catch problems early.
Defines quantitative therapeutic corridor of stability for Pompe disease ERT: FVC change within −1% to +5%/year (alarm threshold: >5% decline/12 months); 6MWT within ±25m of peak (action threshold: >25m decline); uHex-4 and CK biomarker normalization as early surrogates; switching between ERT preparations is generally feasible. This record was retained from the prior triage attempt for PubMed pipeline handoff.
What the study was
- Study design
- systematic review + evidence-based position statement
- Category
- rare_diseases
- Maturity
- Validated
- Journal
- Orphanet J Rare Dis
Why it surfaced
First consensus quantitative monitoring framework for Pompe disease ERT—directly actionable for clinical practice; Orphanet Journal of Rare Diseases (premier rare disease journal); comprehensive evidence synthesis for a devastating lysosomal storage disorder with 3 approved but heterogeneous therapies; high unmet need for treatment decision tools.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.