Long-Term outcome of infantile onset pompe disease patients treated with enzyme replacement therapy
- Background: Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) was approved in Europe in 2006. Nevertheless, data on the long-term outcome of infantile onset Pompe disease (IOPD) patients at school age is still limited. Objective: We analyzed in detail cardiac, respiratory, motor, and cognitive function of 15 German-speaking patients aged 7 and older who started ERT at a median age of 5 months. Results: Starting dose was 20 mg/kg biweekly in 12 patients, 20 mg/kg weekly in 2, and 40 mg/kg weekly in one patient. CRIM-status was positive in 13 patients (86.7%) and negative or unknown in one patient each (6.7%). Three patients (20%) received immunomodulation. Median age at last assessment was 9.1 (7.0–19.5) years. At last follow-up 1 patient (6.7%) had mild cardiac hypertrophy, 6 (42.9%) had cardiac arrhythmias, and 7 (46.7%) required assisted ventilation. Seven patients (46.7%) achieved the ability to walk independently and 5 (33.3%) were still ambulatory at last follow-up. Six patients (40%) were able to sit without support, while the remaining 4 (26.7%) were tetraplegic. Eleven patients underwent cognitive testing (Culture Fair Intelligence Test), while 4 were unable to meet the requirements for cognitive testing. Intelligence quotients (IQs) ranged from normal (IQ 117, 102, 96, 94) in 4 patients (36.4%) to mild developmental delay (IQ 81) in one patient (9.1%) to intellectual disability (IQ 69, 63, 61, 3x < 55) in 6 patients (54.5%). White matter abnormalities were present in 10 out of 12 cerebral MRIs from 7 patients.
Author: | Charlotte Pfrimmer, Martin Smitka, Nicole Muschol, Ralf A. Husain, Huemer Martina, Julia B. Hennermann, Rahel Schuler, Andreas Hahn |
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DOI: | https://doi.org/10.3233/JND-230164 |
ISSN: | 2214-3599 |
Parent Title (English): | Journal of Neuromuscular Diseases |
Subtitle (English): | Data from a German-Austrian cohort |
Document Type: | Article |
Language: | English |
Year of publication: | 2024 |
Release Date: | 2024/01/31 |
Tag: | Infantile onset Pompe disease; long-term outcome; prognosis |
Volume: | 11 |
First Page: | 167 |
Last Page: | 177 |
Organisationseinheit: | Soziales & Gesundheit |
DDC classes: | 600 Technik, Medizin, angewandte Wissenschaften / 610 Medizin, Gesundheit |
Open Access?: | ja |
Peer review: | wiss. Beitrag, peer-reviewed |
Publicationlist: | Huemer, Martina |
Licence (German): | Creative Commons - CC BY-NC - International - Attribution - NonCommercial - Namensnennung - Nicht kommerziell 4.0 |