Analysis of patient access to orphan drugs in Turkey

Kockaya, G.; Atalay, Sibel; Oğuzhan, G.; Kurnaz, M.; Ökçün, S.; Gedik, C. Sar; Şaylan, Mete; Şencan, Nazlı

doi:10.1186/s13023-021-01718-3

Cited by 12 publications

(7 citation statements)

References 15 publications

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“…This finding is consistent with a recent study examining patients' access to orphan drugs in Türkiye. In this context, access to 34 of the 105 orphan drugs on the EMA list in 2020 is still not available, and only 34 of the remaining 71 drugs are within the scope of reimbursement ( 31 ).…”

Section: Discussionmentioning

confidence: 99%

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Sahin

Erbilgin

et al. 2023

Front. Public Health

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Rare disease patients constitute a significant part of the healthcare system of all countries. However, the information on the experiences during disease processes and daily life of rare disease patients is still limited. So far, there is a small number of studies conducted in Türkiye, and they mainly cover specific issues like education or anxiety. Here we present a comprehensive survey analysis conducted among the patients and their families within the scope of the Istanbul Solution Platform for Undiagnosed and Rare Diseases-ISTisNA project. A total of 498 individuals responded to the survey, and 58% of the participants answered all questions. The majority of the patients were in the age range of 1–10 years (44.7%), and 91% of all the patients had a precise diagnosis. The diagnosis rate in the first 6 months was 69%, and almost 10% of the patients remained undiagnosed. The mothers were the primary caregivers (72%). Nearly 30% of the caregivers had to quit their jobs and 25% of the patients (0–18 years) had to leave school. Accessing physicians with relevant specialization and reaching treatments/medications/supplements were the two main obstacles the participants mentioned, with a frequency of 81% and 73%, respectively. Around 50% of participants noted that they commonly faced difficulties at work/school and in their social lives. The highest expectation or priority was the establishment of rare disease-specific diagnosis and treatment centers, accurate and detailed information on diseases in the Turkish language, and easy access to physicians, treatments, and supportive therapies. To the best of our knowledge, this is the most comprehensive survey conducted on the rare disease community in Türkiye. These results show that regardless of the country, the individuals affected by rare diseases and their families have similar problems and expectations. On the other hand, regional and country-specific issues are still in the line to be solved. These studies can provide a deeper insight into rare diseases and guide the activities of Türkiye's national rare disease action plan.

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Section: Discussionmentioning

confidence: 99%

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Sahin

Erbilgin

et al. 2023

Front. Public Health

View full text Add to dashboard Cite

show abstract

“…It also showed that medical doctors, and those in primary care in particular, lack knowledge and experience on the diagnosis, treatment and rehabilitation of RD patients (31). Also in Turkey national policy for rare diseases and orphan drugs requires urgent updating as Turkish RD patients struggle with lack of knowledge and experience from healthcare practitioners, lack of specialist physicians and difficulties in patients' treatment and follow-up which in turn result in late or misdiagnosis, delayed access to appropriate treatment centers and inadequate number of orphan drugs (38). Finally, although awareness of RDs in many countries of Southeast Asia, including the Philippines, Singapore, Malaysia, Indonesia, Vietnam, and Thailand, is grounded on patient support and advocacy group they also suffer from insufficient number of genetic specialists, lack clinical RD expertise and possess only a few institutional centers that offer specific services to treat RDs.…”

Section: Discussionmentioning

confidence: 99%

The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study

Walkowiak

Bokayeva

Miraleyeva

et al. 2022

Front. Public Health

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Although national plans or strategies for rare diseases (RDs) have been implemented in many jurisdictions research show that one of the main barriers RD patients face during medical encounter is medical professionals' low level of knowledge and experience on the diagnosis, treatment and rehabilitation of RD patients. Consequently, there is a need to increase the standards of medical education in the field of RDs and to revise the undergraduate and postgraduate training programs. However, while studies on medical education in the field of RDs has been conducted in various countries across the both Americas, Asia or the European Union, still little is known about the awareness of RDs among healthcare professionals in the Republic of Kazakhstan. Thus, we conducted a survey among 207 medical students and 101 medical doctors from the West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan. The study was conducted between March and May 2021. The questionnaire assessed their knowledge about the number, examples, etiology and estimated frequency of RDs. It also evaluated respondents self-assessment of competence in RDs. Although the majority of respondents agreed that RDs constitute a serious public health issue both medical students and medical doctors showed insufficient knowledge on the etiology, epidemiology and prevalence of RDs, and many had problems with separating RDs from more common disorders. Moreover, they also lacked knowledge about and the central register of RD patients and reimbursement of orphan drugs in Kazakhstan. Finally, while almost half respondents declared having had classes about RDs during their studies most perceived their knowledge about RDs as insufficient or poor and felt unprepared for caring for RD patients. Additionally, although majority of respondents in both groups believed that all physicians, regardless of their specialization, should possess knowledge on RDs many respondents did not look for such information at all.

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“…Historically, reimbursement of orphan drugs, including treatments of rare neuromuscular diseases, have varied markedly both within and across countries. Restrictions in reimbursement of orphan drugs have been reported in, for example, Central and Eastern European countries [ 71 ], Italy [ 72 ], Spain [ 73 ], and Turkey [ 74 ], as well as other settings [ 75 ]. Recently, Ward et al [ 76 ] compared reimbursement status of marketed orphan drugs in 18 European countries, as well as Canada, between January 1, 2015, and March 31, 2020.…”

Section: Patient Access To Gene Therapiesmentioning

confidence: 99%

Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives

Landfeldt

2022

Journal of Neuromuscular Diseases

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Highly efficacious, potentially curative gene therapies holds immense clinical promise, but also present complex challenges. At the time of regulatory approval and health technology assessment (HTA), evidence of efficacy and safety of gene therapies is often uncertain. In addition, research, development, and manufacturing costs, small pools of eligible patients, and the fact that many gene therapies are administered only once means that they frequently are associated with very high “one-off” price points. Although only a limited number of products have been brought to market globally, hundreds of clinical trials of gene therapies, including several of monogenetic neuromuscular diseases, are currently ongoing. Over time, as more and more conditions become amendable to gene therapy, the number of transformative, high-cost treatments is likely to increase considerably. For these reasons, concerns have been raised regarding the suitability of current health policy systems, including HTA frameworks, in ensuring appropriate access to these therapeutic innovations while simultaneously safeguarding value for taxpayers’ money, as well as affordability and sustainability. This review provides a summary overview of current challenges and future perspectives of gene therapies for neuromuscular diseases from a health economic point of view.

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Analysis of patient access to orphan drugs in Turkey

Cited by 12 publications

References 15 publications

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study

Gene Therapy for Neuromuscular Diseases: Health Economic Challenges and Future Perspectives

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