OOIR: Observatory of International Research

Papers

(The median citation count of Expert Opinion on Orphan Drugs is 0. 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 2021-04-01 to 2025-04-01.)

Article	Citations
Patient experience in a rare disease: application of the IEXPAC questionnaire in hereditary transthyretin-mediated amyloidosis	10
An evaluation of nifurtimox for Chagas disease in children	10
Risdiplam as an orphan drug treatment of spinal muscular atrophy in adults and children (2 months or older)	8
Pricing and reimbursement policy for new orphan drugs in South Korea: focused on patient accessibility and budget impact	6
Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency	5
The Orphan Drug Act and rare cancers: a retrospective analysis of oncologic orphan drug designations and associated approvals from 1983-2022	5
Targeting the IL-2 pathway for the treatment of mucosal melanoma	4
Pitolisant for the treatment of cataplexy in adults with narcolepsy	4
European stakeholder perspectives on challenges to rare disease drug development – a qualitative study	3
Steroid alternatives for managing eosinophilic lung diseases	3
Molecular aspects of the altered Angiotensin II signaling in Gitelman’s syndrome	3
Advances in predicting patient survival in pulmonary sarcoidosis	3
Orphan drugs approved in Canada: health technology assessment, price negotiation, and government formulary listing	2
Quality of life of patients with acromegaly: comparison of different therapeutic modalities	2
Emerging therapies against Naegleria fowleri	2
Making orphan drugs and services available and accessible for people who live with rare diseases: what has been done? a systematic scoping review	2
Real world data for rare diseases research: The beginner’s guide to registries	1
Old and novel prognostic biomarkers in primary biliary cholangitis	0
Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs	0
Management of pulmonary hypertension in infants	0
Current medicines hold promise in the treatment of orphan infections due to brain-eating amoebae	0
Current and emerging therapies for the treatment of leishmaniasis	0
Current and innovative therapeutic strategies for the treatment of giant cell arteritis	0
Adjuvant chemotherapy in patients with uterine carcinosarcoma: a review of clinical outcomes and considerations	0
Recommendations for the management of diarrhea with trofinetide use in Rett syndrome	0

An evaluation of onasemnogene abeparvovec for spinal muscular atrophy (SMN1)	0
Correlation between neurological features, nutritional status, and metabolic changes in patients with Ataxia-telangiectasia	0
Rare diseases: proposition of a list based on the Brazilian Health System	0
Lumasiran: expanding the treatment options for patients with primary hyperoxaluria type 1	0
Efficacy of sirolimus for treatment of autoimmune lymphoproliferative syndrome: a systematic review of open label clinical studies	0
The national drug formulary listing process for orphan drugs in South Korea: narrative review focused on pricing and reimbursement pathways	0
Drugs and biologics receiving FDA orphan drug designation: an analysis of the most frequently designated products and their repositioning strategies	0
Coenzyme Q₁₀ and the exclusive club of diseases that show a limited response to treatment	0
Overview of genetic testing in Prader-Willi syndrome	0