Academic Journal
Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?
| Τίτλος: | Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis? |
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| Συγγραφείς: | Sundus Abdul Ghani, Sheeba Burney, Hassan ul Hussain, Maryam Abdul Wahid, Hassan Mumtaz |
| Πηγή: | Int J Surg |
| Στοιχεία εκδότη: | Ovid Technologies (Wolters Kluwer Health), 2023. |
| Έτος έκδοσης: | 2023 |
| Θεματικοί όροι: | 0301 basic medicine, Physiology, Epidemiology, Clinical significance, Epidemiology and Treatment of Chagas Disease, Hematopoietic stem cell transplantation, Pediatrics, 03 medical and health sciences, Cognition, 0302 clinical medicine, alpha-Mannosidase, FOS: Chemical sciences, Lysosomal Storage Disorders, Correspondence, Health Sciences, Humans, Enzyme Replacement Therapy, Disease, Intensive care medicine, Child, Internal medicine, Bone Marrow Transplantation, Transplantation, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, 3. Good health, Clinical trial, Chemistry, FOS: Biological sciences, Enzyme replacement therapy, alpha-Mannosidosis, Physical Sciences, Medicine, Lysosomal Storage Disorders in Human Health and Disease |
| Περιγραφή: | Alpha-mannosidosis (AM) is an autosomal recessive lysosomal storage disorder caused by reduced activity of the enzyme alpha-mannosidase. The disease is characterized by immunodeficiency, facial and skeletal abnormalities, impaired hearing, and intellectual disability. The clinical subtype of AM shows considerable variability in an individual, and at present, at least three clinical subtypes are suggested. Diagnosis is made by identification of deficiency of α-mannosidase activity in nucleated cells, like fibroblasts. The children are often born apparently normal as the disease is insidiously progressive, hence making early diagnosis essential. Along with supportive care, long-term therapeutic options include hematopoietic stem cell transplant, bone marrow transplantation, and enzyme replacement therapy. The possible benefits of these procedures must be weighed against the overall risk of procedure-related morbidity and mortality. Velmanase alfa is the first human recombinant form of alpha-mannosidase licensed and available for long-term enzyme replacement therapy. It is approved for treating non-neurologic manifestations of mild to moderate AM. The results obtained from different clinical trials provide evidence of the positive clinical effect of the recombinant enzyme on patients with AM. Different routes of diagnosis and unspecific initial symptoms of the disease lead to a delay in the initiation of treatment, resulting in accumulative morbidity. Thus, there is a dire necessity to create more awareness. Furthermore, additional multiple large-scale trials are needed to evaluate the long-term safety and efficacy of velmanase alfa. |
| Τύπος εγγράφου: | Article Other literature type |
| Γλώσσα: | English |
| ISSN: | 1743-9159 |
| DOI: | 10.1097/js9.0000000000000528 |
| DOI: | 10.60692/97n9a-07892 |
| DOI: | 10.60692/p9bbt-w3p98 |
| Σύνδεσμος πρόσβασης: | https://pubmed.ncbi.nlm.nih.gov/37352513 |
| Rights: | URL: http://creativecommons.org/licenses/by/4.0/ http://creativecommons.org/licenses/by/4.0/ URL: http://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (http://creativecommons.org/licenses/by/4.0/) (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0/ (http://creativecommons.org/licenses/by/4.0/) |
| Αριθμός Καταχώρησης: | edsair.doi.dedup.....32fbc129f1ad350212efabf0984a8db5 |
| Βάση Δεδομένων: | OpenAIRE |
| ISSN: | 17439159 |
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| DOI: | 10.1097/js9.0000000000000528 |