OOIR: Observatory of International Research

Papers

(The TQCC of Expert Opinion on Orphan Drugs is 2. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-05-01 to 2024-05-01.)

Article	Citations
Advances in understanding of Netherton syndrome and therapeutic implications	24
The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism	11
Drugs and biologics receiving FDA orphan drug designation: an analysis of the most frequently designated products and their repositioning strategies	8
Lumasiran: expanding the treatment options for patients with primary hyperoxaluria type 1	7
Tazemetostat as a treatment for epithelioid sarcoma	7
Steroid alternatives for managing eosinophilic lung diseases	5
Advances in drug therapies for cytomegalovirus in transplantation: a focus on maribavir and letermovir	5
Current state of developing advanced therapies for rare diseases in the European Union	5
Current and innovative therapeutic strategies for the treatment of giant cell arteritis	4
Hydrocortisone granules in capsules for opening (Alkindi) as replacement therapy in pediatric patients with adrenal insufficiency	4
Gut microbial profiling as a therapeutic and diagnostic target for managing primary biliary cholangitis.	4
Coenzyme Q₁₀ and the exclusive club of diseases that show a limited response to treatment	4
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?	4
Fusariosis: an update on therapeutic options for management	3
Current and emerging treatment options to prevent renal failure due to autosomal dominant polycystic kidney disease	3
Diagnostics and management approaches forAcanthamoebakeratitis	3
Phase three clinical trials in idiopathic pulmonary fibrosis	2
Strategies to prevent persistent or relapsed mixed cryoglobulinemia	2
Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs	2
The national drug formulary listing process for orphan drugs in South Korea: narrative review focused on pricing and reimbursement pathways	2
A review of the criteria for non-invasive diagnosis of cardiac transthyretin amyloidosis	2
Rare diseases: proposition of a list based on the Brazilian Health System	2
Evolving treatments in high-risk neuroblastoma	2
Current medicines hold promise in the treatment of orphan infections due to brain-eating amoebae	2
SOD1-targeting therapies for neurodegenerative diseases: a review of current findings and future potential	2

Current knowledge for the microbiological diagnosis ofTropheryma whippleiinfection	2
Multiple endocrine neoplasia type 1: a review of current diagnostic and treatment approaches	2
Correlation between neurological features, nutritional status, and metabolic changes in patients with Ataxia-telangiectasia	2
Recommendations and guidance on the diagnosis and management of Danon disease	2
Recommendations for the management of diarrhea with trofinetide use in Rett syndrome	2
Assessing prognosis of chronic lymphocytic leukemia using biomarkers and genetics	2
Inhibitory effect of Tunceli garlic (Allium tuncelianum) on blastocystis subtype 3 grown in vitro	2