OOIR: Observatory of International Research

Papers

(The median citation count of Expert Opinion on Orphan Drugs is 1. 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 2020-11-01 to 2024-11-01.)

Article	Citations
Advances in understanding of Netherton syndrome and therapeutic implications	25
Drugs and biologics receiving FDA orphan drug designation: an analysis of the most frequently designated products and their repositioning strategies	10
Lumasiran: expanding the treatment options for patients with primary hyperoxaluria type 1	8
Recommendations for the management of diarrhea with trofinetide use in Rett syndrome	8
Steroid alternatives for managing eosinophilic lung diseases	6
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
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
Current medicines hold promise in the treatment of orphan infections due to brain-eating amoebae	3
Fusariosis: an update on therapeutic options for management	3
Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs	3
Making orphan drugs and services available and accessible for people who live with rare diseases: what has been done? a systematic scoping review	3
The national drug formulary listing process for orphan drugs in South Korea: narrative review focused on pricing and reimbursement pathways	3
A review of the criteria for non-invasive diagnosis of cardiac transthyretin amyloidosis	3
Rare diseases: proposition of a list based on the Brazilian Health System	2
Correlation between neurological features, nutritional status, and metabolic changes in patients with Ataxia-telangiectasia	2
Real world data for rare diseases research: The beginner’s guide to registries	2
Phase three clinical trials in idiopathic pulmonary fibrosis	2
Recommendations and guidance on the diagnosis and management of Danon disease	2
Advances in predicting patient survival in pulmonary sarcoidosis	2
Evolving treatments in high-risk neuroblastoma	2
Efficacy of sirolimus for treatment of autoimmune lymphoproliferative syndrome: a systematic review of open label clinical studies	2
Inhibitory effect of Tunceli garlic (Allium tuncelianum) on blastocystis subtype 3 grown in vitro	2

Understanding the genetic pathology of Stargardt disease: a review of current findings and challenges	1
Assessing and managing symptom burden and quality of life in primary sclerosing cholangitis patients	1
Cerliponase alfa for CLN2 disease, a promising therapy	1
Risdiplam as an orphan drug treatment of spinal muscular atrophy in adults and children (2 months or older)	1
Managing respiratory complications in infants and newborns with congenital diaphragmatic hernia	1
Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy	1
Canakinumab injection for the treatment of active Still’s disease, including adult-onset Still’s disease	1