scholarly journals A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries

2020 ◽  
Vol 7 ◽  
Author(s):  
Marcin Czech ◽  
Aleksandra Baran-Kooiker ◽  
Kagan Atikeler ◽  
Maria Demirtshyan ◽  
Kamilla Gaitova ◽  
...  
2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Xuefeng Li ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
...  

Abstract Background Each rare disease only affects a small number of population. However, a total of 7000 rare diseases may affect 10% of the population. Due to the severity and lack of rare disease awareness, rare disease represents a huge challenge for the healthcare system. In Western countries, patient organizations have been playing an integral role in raising awareness, advocating legislation, and supporting drug development. This study aims to assess the unmet needs of rare disease patient organizations in China, and identify their unmet needs, providing essential information for the government and legislators. Results A total of 28 individuals representing 28 patient organizations in China were interviewed. Most organizations do not have official registration, employees, written standard operation protocol, or reliable financial resources. Misdiagnosis or delayed diagnosis is common, and treatment is often lacking. Due to the lack of financial resources, no organizations have been able to sponsor academic research, unlike their counterparts in Western countries. As to challenges, 71.4% of interviewees listed lack of rare disease awareness among the general public, while 67.9% selected lack of financial resources. Further, only 7.3% of these organizations received support from the government, and 28.6% received support from the general public. As to recommendations to the government, 82.1% of interviewees selected special insurance programs for rare diseases because rare diseases have been generally excluded from the national medical insurance programs. In addition, 78.6% of interviewees recommended to stimulate rare disease research, 75% recommended to import orphan drugs, and 71.4% recommended legislation of an orphan drug act, highlighting the urgent need of therapies. Conclusions Due to lack of support and rare disease awareness, patient organizations in China are still in the early phase. To empower these patient organizations, the interviewees’ recommendations, including legislating orphan drug act and releasing official definition of rare diseases, should be considered by the government and legislators.


2020 ◽  
Vol 19 (8) ◽  
pp. 495-496 ◽  
Author(s):  
Anneliene Hechtelt Jonker ◽  
Virginie Hivert ◽  
Michela Gabaldo ◽  
Liliana Batista ◽  
Daniel O’Connor ◽  
...  

2020 ◽  
Author(s):  
Natalie Corina Munguia ◽  
B. Robert Mozayeni ◽  
Thomas Wright ◽  
Karen L. Herbst

Abstract Background In the United States (US), the Orphan Drug Act of 1983 defines a rare disease as affecting less than 200,000 individuals. In Europe, a rare disease or disorder is defined as affecting 5 individuals in 10,000 which the European commission reports to be approximately 246,000 individuals. Dercum’s disease, also known as Adiposis Dolorosa, is a rare loose connective (fat) tissue disease that is characterized by painful lipomas (fatty masses). Orphanet, the National Organization for Rare Disease (NORD) and the United States National Institutes of Health (NIH) have classified Dercum’s disease as a rare disorder. The prevalence of Dercum’s disease is not well studied or understood. The objective of this paper is to estimate the prevalence of Dercum’s disease, whether it is in fact a rare disease, and increase awareness for this painful disease. Results An in-depth literature review was conducted in PubMed, the UK Biobank, the U.S. Agency for Health Research and Quality Healthcare Cost and Utilization, by incidence of disease in medical practice, in social media forums and by internet search in order to understand, estimate and determine the prevalence of Dercum’s disease. The prevalence of Dercum’s disease was found to range from 150 to 150,000 in the US population. Conclusion The data collected in this paper meet the requirements of the Orphan Drug Act which requires 200,000 individuals or less to be affected by a disorder for it to be classified as rare. These conclusions may apply to Europe as supporting data was utilized from both Sweden and the UK. Further research must be conducted to better understand subclassifications of this rare disorder.


Health Policy ◽  
2010 ◽  
Vol 97 (2-3) ◽  
pp. 173-179 ◽  
Author(s):  
Alain Denis ◽  
Lut Mergaert ◽  
Christel Fostier ◽  
Irina Cleemput ◽  
Steven Simoens

2015 ◽  
Vol 7 (3) ◽  
Author(s):  
Hassan A. Al-Jafar ◽  
Salma M. AlDallal ◽  
Haifa A. Askar ◽  
Ali M. Aljeraiwi ◽  
Ahmad Al-Alansari

Paroxysmal nocturnal hemoglobinuria (PNH) is an ultra-orphan disease affecting all hematopoietic cell types. The abnormality of red blood cells in this disease predisposes to intravascular complement-mediated hemolysis. Eculizumab is an orphan drug used to treat this rare disease. Thrombosis is the key cause of death in PNH patients in about 40% to 67% of cases. We report the case of a woman presenting with PNH complicated with serious Budd-Chiari syndrome thrombosis and with a stent inserted in the portal vein. She refused to take any anticoagulant treatment since she commenced eculizumab 4 years before. No thrombotic events happened since that time. This case could add an extra benefit for eculizumab, which could be used as an anti-thromboembolic prophylactic agent in PNH, especially in patients with thrombocytopenia, where the use of anticoagulant agents is extremely hazardous. More randomized studies might establish the use of eculizumab without anticoagulants to avoid serious bleeding that could happen in thrombocytopenic PNH patients.


Sign in / Sign up

Export Citation Format

Share Document