Criteria to define rare diseases and orphan drugs: a systematic review protocol

Abozaid, Ghadah; Kerr, Katie; McKnight, Amy Jayne; Al-Omar, Hussain Abdulrahman

doi:10.1136/bmjopen-2022-062126

Cited by 19 publications

(7 citation statements)

References 22 publications

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“…There are also more than 84 rare respiratory diseases [ 75 ]. According to the World Health Organization, a rare disease is a health condition with a low prevalence compared to common diseases, affecting approximately 6% of the world’s population [ 76 ]. European Union (EU) countries define rare diseases as “life-threatening or chronically debilitating diseases with such a low prevalence (less than 5 per 10,000) [ 77 ].…”

Section: Respiratory Diseasesmentioning

confidence: 99%

Animals in Respiratory Research

Fröhlich

2024

IJMS

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The respiratory barrier, a thin epithelial barrier that separates the interior of the human body from the environment, is easily damaged by toxicants, and chronic respiratory diseases are common. It also allows the permeation of drugs for topical treatment. Animal experimentation is used to train medical technicians, evaluate toxicants, and develop inhaled formulations. Species differences in the architecture of the respiratory tract explain why some species are better at predicting human toxicity than others. Some species are useful as disease models. This review describes the anatomical differences between the human and mammalian lungs and lists the characteristics of currently used mammalian models for the most relevant chronic respiratory diseases (asthma, chronic obstructive pulmonary disease, cystic fibrosis, pulmonary hypertension, pulmonary fibrosis, and tuberculosis). The generation of animal models is not easy because they do not develop these diseases spontaneously. Mouse models are common, but other species are more appropriate for some diseases. Zebrafish and fruit flies can help study immunological aspects. It is expected that combinations of in silico, in vitro, and in vivo (mammalian and invertebrate) models will be used in the future for drug development.

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Section: Respiratory Diseasesmentioning

confidence: 99%

Animals in Respiratory Research

Fröhlich

2024

IJMS

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“…These incentives contributed to the development and commercialization of over 600 drugs and biologics to treat RD (Chan et al, 2020). However, the upsurge in the number of orphan drugs approved in recent years, combined with the extremely high prices for these drugs (four times more expensive than a non-orphan drug), have triggered concern (Abozaid et al, 2022).…”

Section: Rare Skin Diseasesmentioning

confidence: 99%

Topically Applied Therapies for the Treatment of Skin Disease: Past, Present, and Future

Brown,

Williams,

Chilcott

et al. 2024

Pharmacol Rev

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“…Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population [ 1 ]. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from national health systems.…”

Section: Introductionmentioning

confidence: 99%

The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases

et al. 2023

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Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from national health systems. Aim: The aim of this study is to describe the clinical characteristics of, and the available laboratory examinations for, patients who were hospitalized in a tertiary referral center and finally received a diagnosis associated with a Rare Neurological Disease (RND). Materials and Methods: Patients that were hospitalized in our clinic from 1 January 2014 to 31 March 2022 and were finally diagnosed with an RND were consecutively included. The RND classification was performed according to the ORPHAcode system. Results: A total of 342 out of 11.850 (2.9%) adult patients admitted to our department during this period received a diagnosis associated with an RND. The most common diagnosis (N = 80, 23%) involved an RND presenting with dementia, followed by a motor neuron disease spectrum disorder (N = 64, 18.7%). Family history indicative of an RND was present in only 21 patients (6.1%). Fifty-five (16%) people had previously been misdiagnosed with another neurological condition. The mean time delay between disease onset and diagnosis was 4.24 ± 0.41 years. Conclusions: Our data indicate that a broad spectrum of RNDs may reach a tertiary Neurological Center after a significant delay. Moreover, our data underline the need for a network of reference centers, both at a national and international level, expected to support research on the diagnosis and treatment of RND.

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Criteria to define rare diseases and orphan drugs: a systematic review protocol

Cited by 19 publications

References 22 publications

Animals in Respiratory Research

Animals in Respiratory Research

Topically Applied Therapies for the Treatment of Skin Disease: Past, Present, and Future

The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases

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