An expert consensus panel made up of clinicians from 5 countries in the Gulf region offered their recommendations on the diagnostic approaches and management of treatment for patients with infantile-onset Pompe disease (IOPD) in an article published in the Orphanet Journal of Rare Diseases.
Since early diagnosis and initiation of treatment with enzyme replacement therapy (ERT) are highly correlated with disease outcome, the panel recommends that pilot studies of newborn screening be initiated for the Gulf region. The panel acknowledged the lack of adequate laboratory structure for the screening of Pompe disease in the region, however.
With a high rate of consanguinity in the Middle East leading to a higher incidence of inherited metabolic diseases, the panel also recommended prenatal screening for cardiomegaly and premarital and preimplantation genetic diagnoses to help identify carrier status in at-risk family members.
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“The current expert-based consensus, along with the clinical experience shared by experts, would establish comprehensive and practical approaches for the positioning of ERT and the immunomodulation protocol in the management algorithm of IOPD in clinical settings,” the authors said.
The panel discussed the delay in initial diagnosis with enzyme assay tests sometimes taking up to 6 weeks to get results. Because of this, the panel recommends the initiation of ERT in children with a family history of Pompe disease and a phenotype consistent with IOPD even before confirmatory testing is available.
Initiation of an immunomodulation protocol in conjunction with ERT was also recommended by the panel for all patients with IOPD but especially in those with cross-reactive immunological material (CRIM)-negative status, severe phenotype, and early disease onset.
The recommended dose of ERT was 20 mg/kg every other week in conjunction with immune tolerance induction, irrespective of CRIM status. If significant improvements were not reported at this dose, increasing the dose to 40 mg/kg weekly may improve the outcomes. The increase in dose should only be undertaken under the supervision of an expert with a multidisciplinary team, however.
Levels of antirecombinant human acid-alpha glucosidase (anti-rhGAA) antibodies should be measured at baseline and regularly by the primary physician during treatment. The anti-rhGAA levels should be used to make decisions on the course of immunotherapy.
The panel was made up of a total of 6 experts representing Saudi Arabia, Kuwait, Oman, Qatar, and the United Arab Emirates. The panel met in October 2020 and April 2021.
Hassnan ZA, Hashmi NA, Makhseed N, Omran TB, Al Jasmi F, Teneiji AA. Expert group consensus on early diagnosis and management of infantile-onset Pompe disease in the Gulf region. Orphanet J Rare Dis. Published online October 27, 2022. doi:10.1186/s13023-022-02545-w