Association of Elosulfase Alpha for Quality of Life In Morquio IV-A Syndrome: A Case Series

Background: Morquio A syndrome is an inherited autosomal recessive disease caused by a deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. Enzyme replacement therapy with Elosulfase Alfa is used to treat patients as soon as the diagnosis is established due to a high impact on prognosis and quality of life. This study evaluated the association for quality of life of enzyme replacement therapy with Elosulfase Alfa in patients with Morquio A syndrome.

Methods: A case series study of eight patients was based on a characterization of patients with Morquio A syndrome and a diagnosis of short stature and/or recurrent respiratory infections without an identified cause. The patients were divided into a treated group with Elosulfase Alfa and a nontreated group. A Brief Pain Inventory short-form test was used to evaluate pain. The Health Assessment Questionnaire and 6-minute walk test were applied to measure the quality of life and functionality in both groups.

Results: The mean age of the patients treated with ERT was 36 years old, while the mean age in the untreated group was 33 years. In the 6-walk-test, the mean distance in the treated group was 129 metres and 70.5 metres in the untreated group. The mBPI-sf showed 1 patient in the treated group with a no-pain score, 2 patients with a mild-pain score, and 1 patient with a moderate-pain score, whereas the untreated group had 2 patients with a mild-pain score and 2 patients with a moderate-pain score. The HAQ showed that in the treated group, the patients reported little or no interference with their enjoyment of life, while in the untreated group, all patients reported severe interference with their enjoyment of life.

Discussion/Conclusion: Although Elosulfase Alfa provides a limited improvement in bone and cartilage lesions, it contributes to slower disease progression, therefore, to a better quality of life, especially in those with an earlier diagnosis and age of initiation of therapy.