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 2020-03-01 to 2024-03-01.)

Article	Citations
Monitoring progression of retinitis pigmentosa: current recommendations and recent advances	27
Advances in understanding of Netherton syndrome and therapeutic implications	23
Druggable targets, clinical trial design and proposed pharmacological management in fibrodysplasia ossificans progressiva	11
The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism	11
Balamuthia mandrillaris: pathogenesis, diagnosis, and treatment	8
Drugs and biologics receiving FDA orphan drug designation: an analysis of the most frequently designated products and their repositioning strategies	8
Tazemetostat as a treatment for epithelioid sarcoma	7
Lumasiran: expanding the treatment options for patients with primary hyperoxaluria type 1	7
Advances in therapeutic treatment options for ANCA-associated vasculitis	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
Mexiletine (NaMuscla) for the treatment of myotonia in non-dystrophic myotonic disorders	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
Diagnostics and management approaches forAcanthamoebakeratitis	3
Current and emerging treatment options to prevent renal failure due to autosomal dominant polycystic kidney disease	3
Gut microbial profiling as a therapeutic and diagnostic target for managing primary biliary cholangitis.	3
Strategies to prevent persistent or relapsed mixed cryoglobulinemia	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
Current medicines hold promise in the treatment of orphan infections due to brain-eating amoebae	2
Elucidating the pathogenesis of adenosine deaminase 2 deficiency: current status and unmet needs	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
Phase three clinical trials in idiopathic pulmonary fibrosis	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
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
Ravulizumab in the treatment of paroxysmal nocturnal hemoglobinuria	1
Assessing prognosis in cholangiocarcinoma: a review of promising genetic markers and imaging approaches	1
Agreement of cardiovascular risk in ataxia-telangiectasia mutated heterozygotes and their children with Ataxia-telangiectasia	1
Homozygous familial hypercholesterolemia and its treatment by inclisiran	1
Assessing and managing symptom burden and quality of life in primary sclerosing cholangitis patients	1
Making orphan drugs and services available and accessible for people who live with rare diseases: what has been done? a systematic scoping review	1
Acquired hemophilia A: when an overlooked autoimmune disorder causes significant bleeding	1
Managing respiratory complications in infants and newborns with congenital diaphragmatic hernia	1
Cerliponase alfa for CLN2 disease, a promising therapy	1
Long-term use of mTORC1 inhibitors in tuberous sclerosis complex associated neurological aspects	1
Efficacy of sirolimus for treatment of autoimmune lymphoproliferative syndrome: a systematic review of open label clinical studies	1
Advances in non-surgical treatment for pediatric patients with short bowel syndrome	1
Clinical and economic assessment of nusinersen: the Bulgarian perspective	1
Advances in predicting patient survival in pulmonary sarcoidosis	1
Understanding the genetic pathology of Stargardt disease: a review of current findings and challenges	1
Diagnosis and management of uterine serous carcinoma: current strategies and clinical challenges	1
Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy	1
Hematopoietic stem cell transplantation for Langerhans cell histiocytosis: clinical findings and long-term outcomes	1
Real world data for rare diseases research: The beginner’s guide to registries	1
Canakinumab injection for the treatment of active Still’s disease, including adult-onset Still’s disease	1