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Table 1 Questions proposed in the survey

From: Survey on the management of Pompe disease in routine clinical practice in Spain

 

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)

  1. 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