Journal
NEUROLOGY
Volume 89, Issue 23, Pages 2365-2373Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000004711
Keywords
-
Categories
Funding
- ZonMW-The Netherlands Organization for Health Research and Development [152001005, 80-83600-98-13007, 05-09-2007]
- Prinses Beatrix Spierfonds [OP07-08, W.OR13-21, W.OR15-10]
- SSWO-Sophia Children's Hospital Foundation [687]
- TKI-Health Holland [LSHM16008]
- Colciencias
- Sanofi-Genzyme
- Prinses Beatrix Spierfonds
Ask authors/readers for more resources
Objective: To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease. Methods: We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT. Data were analyzed with linear mixed-effects models for repeated measurements. Results: Median follow-up duration was 6.1 years (range 0.4-7.9 years), of which 5.0 years (range 0.2-7.3 years) were during ERT. Treated patients had better muscle strength (MRC sum score +6.6 percentage points [pp]; HHD sum score 19.6 pp, both p<0.0001), activity levels (R-PAct +10.8 pp, p<0.002), and pulmonary function (FVC upright +7.3 pp, FVC supine +7.6 pp, both p<0.0003) than expected for their untreated disease course. Walking distance improved (416 vs 376 m at baseline, p = 0.03). The largest increase was seen during the first 2 to 3 years of treatment. Response to treatment was similar between groups regardless of sex, age, or disease duration. Conclusions: Long-term ERT positively affects muscle strength, pulmonary function, and daily life activities in adult patients with Pompe disease, with a peak effect at approximate to 2 to 3 years of treatment. Classification of evidence: This study provides Class IV evidence that for patients with Pompe disease, long-term ERT positively affects muscle strength, pulmonary function, and daily life activities.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available