Table 1.
Questions proposed in the survey
| N = 42 N (%) |
|
|---|---|
| When do you consider a definitive diagnosis of Pompe disease? | |
| When two DBS determinations show pathological values of enzyme activity | 9 (21.4) |
| When a determination of enzyme activity in DBS is pathological and in addition the muscle biopsy shows PAS + vacuoles | 17 (40.5) |
| When DBS is pathological and biallelic pathogenic mutations have been identified in the genetic study | 41 (97.6) |
| When the clinical phenotype is compatible and reduced lymphocyte activity has been demonstrated, even though only one pathogenic mutation has been identified in the genetic study | 35 (83.3) |
| When reduced enzyme activity has been demonstrated in two tissues, even though the genetic study is negative | 21 (50.0) |
| When Pompe disease is suspected, I always request a confirmatory genetic study | 39 (92.9) |
| Regarding anti-GAA antibodies: | |
| I have never requested the determination of anti-GAA antibodies | 13 (31.0) |
| After the initiation of treatment, I request anti-GAA antibody determination on a regular basis | 18 (42.9) |
| If antibodies remain at high titers during follow-up, I consider discontinuing treatment | 1 (2.4) |
| I request antibodies when there is a suspicion of lack of efficacy of the treatment (objective clinical worsening) | 32 (76.2) |
| What tests do you perform during clinical follow-up to evaluate the response to treatment? | |
| MRC scale | 39 (92.9) |
| 6MWT | 42 (100) |
| Other timed tests | 24 (57.1) |
| Fatigue scale | 19 (45.2) |
| Activity or quality of life scales | 30 (71.4) |
| Muscle MRI scan | 22 (52.4) |
| Pulmonary function tests | 42 (100) |
| Do you have to do follow-up reports to keep the medication authorized? | |
| No | 23 (54.8) |
| Yes, only occasionally | 5 (11.9) |
| Yes, every 6 months | 8 (19.0) |
| Yes, annually | 10 (23.8) |
| The existence of significant impairment of motor function and/or the presence of respiratory failure is a requirement for the authorization of medication in my hospital | 13 (31.0) |
| Improvement of follow-up parameters is a prerequisite for the maintenance of treatment | 11 (26.2) |
| In what situations would you consider interrupting or stopping treatment? | |
| Never | 2 (4.8) |
| If there are no objective data of stabilization or improvement of motor and/or respiratory function during follow-up | 8 (19.0) |
| If there is evidence of progressive clinical worsening | 32 (76.2) |
6MWT six-minute walk test; DBS dried blood spots; GAA α-glucosidase, acid; MRC Medical Research Council; MRI magnetic resonance imaging; PAS periodic acid-Schiff