The inaugural issue of the Asian Journal of Advances in Orphan Pharmacotherapy features pioneering research and reviews highlighting the emerging advancements in the diagnosis, treatment, and regulatory policies for rare and orphan diseases.
Featured Articles in the Latest Issue
- Volume 1 (Issue 2) JULY– DECEMBER 2025
Research Articles
Asian women: Safety and Efficacy of Sirolimus in the Management of Lymphangioleiomyomatosis: A Prospective Open-Label Study
Vol.1(2); Pages:1-8. Published on July-2025
Abstract
Lymphangioleiomyomatosis (LAM) is a progressive lung disease that is rarely observed in women of productive age, which is linked to the growth of abnormal smooth muscle cells in the lungs. The study was a prospective open-label study done to assess the efficacy and safety of sirolimus in 24 Asian women with proven sporadic LAM. Oral sirolimus (2 mg/day) was administered to the participants over 12 months and the clinical outcome was evaluated using pulmonary function tests (PFTs), serum VEGF-D concentrations and quality of life (QoL) parameters at baseline, 6 and 12 months. The findings demonstrated the drastic stabilization of FEV1 (mean decline = 30 mL/year or less) as well as the enhancement of QoL scores. Moreover, the concentration of VEGFD decline meanly by 28-percent (p < 0.05). Mild stomatitis and hyperlipidemia were the common adverse events that were well-managed. These results help to maintain sirolimus as a possible long-term treatment of LAM and underline the face value of regional data to direct the utilization of orphan drugs in Asian patients.
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Pegylated Interferon-Lambda in Chronic Hepatitis D Virus Infection: A Phase II Randomized Trial: Clinical Evaluation
Vol.1(2); Pages:9-18. Published on July-2025
Abstract
HDV is an uncommon, but a severe condition of the liver that has few treatment options. The safety and efficacy of pegylated interferon-lambda (PEG-IFN-lambda) were compared to that of pegylated interferon-alpha (PEGIFN-alpha) in patients (n=64) with HDV in this Phase II randomized controlled trial. Participants were injected subcutaneously to receive injections on a weekly basis over 48 weeks. Primary outcomes were overall virological response and ALT normalization whereas tolerability was the targeted secondary outcome. Statistically significant results included a 42 percent virological suppression percentage in the PEG-IFN-A arm compared to 21 percent in PEG-IFN-Lambda) with a significantly reduced flu-like symptoms and hematologic toxicity in the PEG-IFN-Lambda arm. PEG-IFN-lambda patients experienced the normalization of the ALT in 39 percent of patients. This result enhances the use of PEG-IFN-lambda as a potential treatment strategy since long-term validation is critical as further Phase III studies are required.
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Compassionate-Use Nusinersen in Adult Spinal Muscular Atrophy Type II: Real-Life Multicentre Data
Vol.1(2); Pages:19-29. Published on July-2025
Abstract
Spinal muscular atrophy (SMA) Type II is a relatively uncommon neuromuscular disorder and it lacks much adult experience in treatment, with most of the clinical trials confined to the pediatric population. This retrospective multi-centered study evaluated the usage of nusinersen in 58 adult patients with SMA-II across the centers in Asia and Europe under compassionate use. Clinical parameters were motor (Hammersmith Functional Motor Scale-Expanded), respiratory, and safety outcome after 24 months. Sixty-seven percent of patients showed stabilization or slight improvement in motor functions with 12 percent of patients developing improvements in ambulation support. There was improved respiratory functioning when compared to natural history information. The safety can be considered consistent between the prior pediatric studies, where the adverse events associated with the lumbar puncture were the most frequent. Notably, patients indicated significant changes in improvements in community-based independence and daily living. This report offers the biggest real-life experience with the use of nusinersen in adult SMA-II and confirms its therapeutic relevance in all ages.
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Oral histone deacetylase inhibitor in the treatment of refractory peripheral T-cell lymphoma Phase II
Vol.1(2); Pages:30-38. Published on August-2025
Abstract
Peripheral T-cell lymphoma (PTCL) is an uncommon and aggressive non-Hodgkin lymphoma subtype with few treatment options on progression after standard chemotherapy. We conducted an open-label Phase II trial of an oral histone deacetylase inhibitor (HDACi) in 42 patients with relapsed or refractory PTCL. Patients were dosed at 200 mg once daily in 28-day cycles to disease progression or intolerable toxicity. There was a 36 percent response rate (14 percent complete and 22 percent partial). Progression-free survival median was 5.2 months. Side effects associated with treatment consisted of thrombocytopenia and neutropenia as well as gastrointestinal manifestations that were tolerable with the assistance of dose reduction and supportive management. These results encourage the clinical utility of HDAC inhibition in heavily pretreated PTCL patients and justify future randomized studies to evaluate combination regimens.
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Systematic Review and Meta-Analysis of New Treatments to Pulmonary Arterial Hypertension with Connective Tissue Disease
Vol.1(2); Pages:39-47. Published on August-2025
Abstract
CTD-PAH is a rare, but severe disease characterized by the progressive vascular remodeling with poor prognosis. The procedure of this systematic review and meta-analysis involved the collection of data provided by 15 clinical trials and 9 observational studies with 2,312 patients. ERAs and PDE5is lowered pulmonary vascular resistance by 32 percent less than placebo or increased 6-minute walk activity distance by 48 meters, respectively. Prostacyclin analogues provided a significant benefit on 3-year survival (HR 0.67; 95% CI 0.51 0.88). Combination therapies were found to be more effective in terms of more functional and hemodynamic outcomes. Peripheral edema, headache, and flushing were the common adverse events. These results suggest enhanced implications of individualized multimodal treatment strategies in the CTD-PAH paradigm, which has implications of better long-term outcomes in this high-risk cohort.
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