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Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Elosulfase alfa intravenous treatment of patients with advanced disease showed excellent reduction of urinary keratan sulfate [76]; 8 patients were clinically improved. Intrathecal heparan-N-sulfatase led to decline in CSF heparan sulfate. Clinical effects were unremarkable.
Enzyme replacement combinational therapy: effective treatments for mucopolysaccharidoses
Published in Expert Opinion on Biological Therapy, 2021
Azam Safary, Hakimeh Moghaddas-Sani, Mostafa Akbarzadeh-Khiavi, Alireza Khabbazzi, Mohammad A. Rafi, Yadollah Omidi
In a prospective Morquio A Clinical Assessment Program (MorCAP) with 325 patients, skeletal dysplasia has been detected in over 90% of MPS IVA subjects. There are limited available data about the impact of ERT on bone disease in MPS disorders. It has been revealed that bone abnormalities remain stable and do not improve noticeably with ERT [91]. Based on the results from a phase III randomized placebo-controlled study, the administration of 2.0 mg/kg/week elosulfase alfa showed an improvement in the 6-min walk test (6MWT) distance over the placebo at 24 weeks. However, regarding the complex pathophysiology nature of LSDs, it is unclear which body system was responsible for the improvement of the 6MWTdistance in each patient. Thus, further studies are required to determine the long-term impact of ERT on bone disease [92]. Patients with MPS IVA disorder have usually normal intelligence. The CNS involvement is limited to the occipital-cervical spinal cord compression resulting from a combination of static stenosis and dynamic instability [32]. The therapeutic efficacy, tolerability, and safety of elosulfase alfa in MPS IVA patients have been evaluated in different clinical trials, including NCT01966029, NCT01515956, NCT01609062, NCT01697319, NCT01242111, NCT01415427, NCT00884949, and NCT01275066.