The Journal of Rare Diseases and Specialty Pharmacology (JRDSP) is committed to publishing impactful, peer-reviewed research that advances clinical knowledge, pharmacological innovation, and therapeutic strategies in the management of rare and complex disorders. Our current and archived issues are fully open access, offering free and immediate access to all readers.
Featured Articles in the Latest Issue
- Volume 1 (Issue 2) JULY– DECEMBER 2025
Research Articles
Real-life Effects of Enzyme Replacement Therapy in Adults with Late Onset Pompe Disease: Multicentric Retrospective Study
Vol.1(2); Pages:1-7. Published on July-2025
Abstract
Pompes disease is an infrequent lysosomal storage disease that is brought on by a deficiency in acid alphaglucosidase, resulting in muscle weakness that develops gradually and respiratory impairment. This retrospective multicenter study aims at assessing the clinical effects of enzyme replacement therapy (ERT) in 52 adult patients with late-onset Pompe disease (LOPD) during the 3-year treatment. It involved an analysis of data of five European specialty centers, with emphasis on the changes of forced vital capacity (FVC), 6-minute walk distance (6MWD), and adverse events. ERT was linked to the statistically significant mean changes of 9 percent in FVC and 14 percent in 6MWD (p < 0.05). All but one adverse event was a mild infusion reaction and no patient discontinued. These data confirm the long-term effectiveness and safety of ERT to enhance the respiratory function and mobility in adult LOPD patients, which provides the persistence of access to specialized pharmacotherapy as an approach to managing rare diseases.
View Full PDF
Please LOGIN to View Full PDF or Read more.
Delta Phase II Open-Label Trial Enzyme Replacement Therapy with Pegylated Alpha-Glucosidase in Late-Onset Pompes Disease
Vol.1(2); Pages:8-15. Published on July-2025
Abstract
Pompes disease is a general infantile progressive autosomal recessive disease due to the deficit of acid alphaglucosidase (GAA), which causes a lysosomal storage condition with glycogen blocking and weakened and weakened muscles and respiratory deterioration. This was a Phase II open-label study to examine safety and effectiveness of pegylated recombinant alpha-glucosidase enzyme in 38 adults who had late-onset Pompe disease. The duration of intravenous infusion comprised 12 months through weekly infusions in patients. The primary clinical outcomes measures were the six-minute walk (6MWT), forced vital capacity (FVC) and safety. The outcome indicated a 38 meter (average) increase in 6MWT and stabilization of FVC in 71 and 64 percent of the patients respectively. Majority of the adverse events were minor and mild-moderate infusion-related events. In contrast to standard therapy, plasma stability was greater, and immunogenicity was diminished in the pegylated formulation, suggesting the potential of long-term therapy.
View Full PDF
Please LOGIN to View Full PDF or Read more.
A Multinational Observational Study Real-World Treatment Patterns of Eculizumab in Paroxysmal Nocturnal Hemoglobinuria
Vol.1(2); Pages:16-24. Published on July-2025
Abstract
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal hematopoietic stem cell disease characterized by uncontrolled activation of the activation of the complement systems, intravascular hemolysis, and the threat of thrombosis. The present multinational, observational study assessed the use of eculizumab in the real world of 172 patients of 14 European centers during 24 months. The important outcomes were the transfusion independence, thromboembolism, breakthrough hemolysis, and patient-reported outcome. Sixty-one percent of patrons became transfusion-independent at 12 months, and the rate of thromboembolism markedly reduced relative to that before treatment (p < 0.01). There was breakthrough hemolysis in 18% which was mainly caused by suboptimal dosing intervals. There was a strong improvement in patient-reported fatigue and disease burden. Such results show that eculizumab has convincing clinical utility in daily practice, with the challenge of dose individualization and other long-acting complement inhibitors.
View Full PDF
Please LOGIN to View Full PDF or Read more.
Two-year follow-up of gene Therapy in Type I spinal muscular atrophy with aav9-mediated SMN1 Delivery Results
Vol.1(2); Pages:25-32. Published on August-2025
Abstract
Spinal muscular atrophy type I (SMA-I) is a critical autosomal disease that is recessive in nature and is as a result of homozygous deletion or mutation of the SMN1 gene. This prospective longitudinal study assessed 24 children with a single intravenous administration of adeno-associated virus serotype 9 (AAV9) gene therapy intervention to deliver SMN1 in children. Patients were followed up to 24 months with 91 percent survival and 54 percent reached independent sitting- a milestone not often observed in untreated SMA-I. Complications were mostly transaminitis that was successfully treated by corticosteroid prophylaxis. None of the oncogenesis or systemic toxicity in relation to vectors was detected. Survival and visceral improvement was very high in treated infants than natural history. These results lend credence to AAV9-SMN1 gene therapy, which may be transformative in SMA-I, but longer follow-up is needed.
View Full PDF
Please LOGIN to View Full PDF or Read more.
Meta-analysis review and reviewing mTOR inhibitors in the case of the tuberous sclerosis complex-related tumors
Vol.1(2); Pages:33-41. Published on August-2025
Abstract
Tuberous sclerosis complex (TSC) is a rare genetically inherited condition that is presented by tumors (hamartomatous) of various organs. The mechanism of action of rapamycin to TSC is majorly by acting through its mechanistic target of rapamycin (mTOR) pathway, hence inhibition of mTOR will act as a selective therapeutic medication. This meta-analysis and systematic review included 11 clinical trials (4 randomized controlled trials and 7 observational cohort studies) including 812 patients who received the everolimus, or the sirolimus. Combined outcomes showed 48% tumor decrease in patients undergoing treatment, and 9%, in controls. The subgroup analysis was advantageous in subependymal giant cell astrocytomas and renal angiomyolipomas. Marginal reductions were noted on the number of seizures and the general survival. Side effects could be dealt with re. Dose modifications. These observations advocate mTOR inhibitors in approaching TSC-related tumors and modifying the disease.
View Full PDF
Please LOGIN to View Full PDF or Read more.
Accessing the Articles
You can access the full text of these articles by clicking on the titles or visiting our journal’s online archives.
Stay Updated
To stay informed about the latest research and updates in the journal, consider subscribing to our newsletter or following us on social media.
