Research Appraisals
Evidence-based critical appraisals of the latest medical research, systematically evaluated using Oxford CEBM methodology.
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Orphanet journal of rare diseases
Clinical outcomes in alpha-mannosidosis: a systematic review of therapeutic approaches
BACKGROUND: Alpha mannosidosis (AM) is a rare lysosomal storage disorder caused by a deficiency in the α-mannosidase enzyme, resulting in impaired glycoprotein metabolism within lysosomes. Enzyme dysfunction is attributed to an autosomal recessive mutation in the MAN2B1 gene. Affected individuals present with a broad spectrum of manifestations, including developmental delays, cognitive decline, musculoskeletal abnormalities, hearing difficulties, and recurrent infections. Current therapeutic options are limited to hematopoietic stem cell transplantation and the more recently developed enzyme replacement therapy. OBJECTIVE: The aim of this review was to evaluate and compare the therapeutic outcomes, benefits and challenges associated with Hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) in the treatment of AM. METHODS: A systematic search across PubMed, MEDLINE, EMBASE, the Cochrane Library, OMIM, and ScienceDirect identified 12 original studies from 307 records. The data are presented narratively due to the scarcity of literature and the heterogeneity of study designs and interventions. RESULTS: A total of 28 patients who received hematopoietic stem cell transplantation showed improvements in preserving neurocognitive function and skeletal stabilization and reduced infection rates, especially when performed at relatively young ages. However, this treatment carries significant risks, including infections, graft-versus-host disease, and increased morbidity and mortality, particularly in older patients. Conversely, enzyme replacement therapy was administered to 75 patients, who demonstrated a favorable safety profile, enhanced respiratory function, reduced skeletal abnormalities, and improved overall quality of life. However, enzyme replacement therapy has limited efficacy in preventing neurocognitive decline and requires lifelong administration. CONCLUSION: Both interventions yield better outcomes when initiated early, particularly before cognitive deterioration becomes significant. This review emphasizes the importance of a timely diagnosis to optimize treatment outcomes and prevent severe complications.
23 July 2026
Read appraisal →Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer
Photobiomodulation for oral mucositis in cancer care: prevention, clinical management, and evidence from randomized controlled trials.
PURPOSE: This systematic review aimed to evaluate the efficacy of photobiomodulation (PBM) for the prevention and clinical management of oral mucositis (OM) in adult cancer patients, with particular emphasis on protocol characteristics potentially associated with favorable clinical outcomes. METHODS: A systematic search of PubMed, Web of Science, and Scopus was conducted up to March 31, 2026, in accordance with PRISMA guidelines. Randomized controlled trials in adult cancer patients comparing PBM with sham interventions were included. Outcomes of interest included OM incidence, severity, pain, and related clinical outcomes. The review protocol was prospectively registered in PROSPERO. RESULTS: Fifteen randomized controlled trials involving 868 adult patients were included. Most studies reported favorable effects of PBM, including reductions in severe OM incidence, pain intensity, analgesic requirements, and nutritional support needs compared with controls. Preventive intraoral PBM protocols were generally associated with more favorable outcomes, although variability in treatment parameters, delivery methods, and outcome reporting limited comparability. Most included studies demonstrated acceptable methodological quality. CONCLUSIONS: PBM appears to be a promising supportive care intervention for reducing the burden of OM in adult cancer patients, particularly in preventive settings. However, variability across protocols precludes definitive conclusions regarding optimal treatment parameters. Further high-quality randomized trials with standardized reporting are needed to refine protocol recommendations and expand evidence in therapeutic settings.
20 June 2026
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