Dataset Information

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

ABSTRACT:

Introduction

Rare diseases (RDs) are often chronic and progressive life-threatening medical conditions that affect a low percentage of the population compared with other diseases. These conditions can be treated with medications known as orphan drugs (ODs). Unfortunately, there is no universal definition of RDs or ODs. This systematic review (SR) will identify the quantitative and qualitative criteria and the underlying rationale used internationally to define RDs and ODs.

Methods and analysis

This protocol follows the conventions for the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (2015 guidelines). A SR will be conducted, including a search of the following databases: PubMed, MEDLINE, EMBASE, Scopus, Web of Science, GreyLit and OpenGrey. Eligible publications will be selected based on predetermined inclusion criteria. Extracted data will be analysed using thematic and content analyses of qualitative descriptors, whereas quantitative data will be analysed descriptively and reported in the form of frequencies and percentages.

Ethics and dissemination

No ethical approval is required since this SR focuses on the secondary analysis of data retrieved from the scientific literature. The outcomes of this SR will be published as part of a PhD thesis, presented at conferences, and published in peer-reviewed journals.

Prospero registration number

CRD42021252701.

SUBMITTER: Abozaid GM

PROVIDER: S-EPMC9345065 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Abozaid Ghada Mohammed GM Kerr Katie K McKnight Amy A Al-Omar Hussain A HA

BMJ open 20220729 7

<h4>Introduction</h4>Rare diseases (RDs) are often chronic and progressive life-threatening medical conditions that affect a low percentage of the population compared with other diseases. These conditions can be treated with medications known as orphan drugs (ODs). Unfortunately, there is no universal definition of RDs or ODs. This systematic review (SR) will identify the quantitative and qualitative criteria and the underlying rationale used internationally to define RDs and ODs.<h4>Methods and ...[more]

PMID: 35906057

Similar Datasets

Project description:According to global annual estimates hunger/malnutrition is the major cause of death (36 of 62 million). Cardiovascular diseases and cancer (5.44 of 13.43 million) are the major causes of death in developed countries, while lower respiratory tract infections, human immunodeficiency virus infection/acquired immunodeficiency syndrome, diarrhoeal disease, malaria and tuberculosis (10.88 of 27.12 million) are the major causes of death in developing countries with more than 70% of deaths occurring in children. The majority of approximately 800 million people with other rare diseases, including 100000 children born with thalassaemia annually receive no treatment. There are major ethical dilemmas in dealing with global health issues such as poverty and the treatment of orphan and rare diseases. Of approximately 50000 drugs about 10% are orphan drugs, with annual sales of the latter approaching 100 billion USD. In comparison, the annual revenue in 2009 from the top 12 pharmaceutical companies in Western countries was 445 billion USD and the top drug, atorvastatin, reached 100 billion USD. In the same year, the total government expenditure for health in the developing countries was 410 billion USD with only 6%-7% having been received as aid from developed countries. Drugs cost the National Health Service in the United Kingdom more than 20 billion USD or 10% of the annual health budget. Uncontrollable drug prices and marketing policies affect global health budgets, clinical practice, patient safety and survival. Fines of 5.3 billion USD were imposed on two pharmaceutical companies in the United States, the regulatory authority in France was replaced and clinicians were charged with bribery in order to overcome recent illegal practises affecting patient care. High expenditure for drug development is mainly related to marketing costs. However, only 2 million USD was spent developing the drug deferiprone (L1) for thalassaemia up to the stage of multicentre clinical trials. The criteria for drug development, price levels and use needs to be readdressed to improve drug safety and minimise costs. New global health policies based on cheaper drugs can help the treatment of many categories of orphan and rare diseases and millions of orphan patients in developing and developed countries.

Project description:BackgroundOver the past 30 years, the healthcare industry has increasingly turned its attention to rare diseases. Regulators have emphasized the need for clinical research in this area to be patient-centered. However, there is a lack of evidence concerning whether this need is actually met. In this paper, we aim to address this gap.MethodsFirst, we describe the state of patient-centricity in clinical research in rare diseases based on a targeted literature review. Second, we discuss recommendations from scientific bodies on patient-reported outcome (PRO) measures in rare diseases. Third, we analyze data collected from EMA's and FDA's websites concerning rare disease labeling claims and data from Clinicaltrials.gov concerning the use of PRO measures in rare disease pivotal trials. Fourth, we perform an exhaustive literature review on the use of PRO measures in the pharmaceutical industry, including all phases of clinical research, observational/registry studies, and instrument development and validation.ResultsThere is limited information on rare disease patient engagement in study design, recruitment, and retention. None of the initiatives describing methods for developing PRO measures in rare diseases provide the clear guidance clinical researchers need. Only 17.4% of orphan drug labels contain a PRO measure. Less than half of pivotal trials in orphan drugs have a PRO measure as a primary or a secondary endpoint. Although the number of publications about PRO measures in rare diseases has risen in the past fifteen years, our results indicate that substantial improvements are needed to achieve patient-centricity.ConclusionsThe nature and extent of patient engagement in rare disease research is under-documented. The current paradigm for developing and using PRO measures in clinical research is failing to meet the needs of rare disease patients. Not only are PROs rarely used as high-level endpoints in clinical trials or taken into account in labeling claims, they are also under-researched overall - there are too few measures for the multitude of rare diseases. We call for a clear guidance on patient engagement and suggest a realistic approach to the adaptation of PRO strategy to the specific context of clinical research in rare diseases.

Project description:ObjectivesThis study sheds light on the available global definitions, classifications, and criteria used for rare diseases (RDs), ultrarare diseases (URDs), orphan drugs (ODs) and ultraorphan drugs (UODs) and provides insights into the rationale behind these definitions.DesignA systematic literature review was conducted to identify existing definitions and the criteria used to define RDs, ODs and their subtypes.Data sourcesSearches were performed in the PubMed/Medline, Embase, Scopus and Web of Science (Science and Social Sciences Citation Index) databases covering articles published from 1985 to 2021.Eligibility criteria for selecting studiesEnglish-language studies on the general human population were included if they provided definitions or criteria for RDs, ODs and/or their subtypes without restrictions on publication year, country or jurisdiction.Data extraction and synthesisTwo independent reviewers conducted the search, screening and data extraction. Narrative synthesis, content analysis and descriptive analyses were conducted to extract and categorise definitions and criteria from these sources. Study quality was assessed using the Joanna Briggs Institute (JBI) critical appraisal tools.ResultsOnline searches identified 2712 published articles. Only 93 articles met the inclusion criteria, with 209 distinct definitions extracted. Specifically, 93 of these articles pertained to 119 RDs, 11 URDs, 67 ODs and 12 UODs. These definitions varied in their reliance on prevalence based and other contextual criteria.ConclusionPrevalence-based criteria alone pose challenges, as disease frequencies differ by country. Establishing country-specific definitions can enhance understanding, support intercountry evaluations, improve healthcare efficiency and access to ODs, and strengthen equity and equality in healthcare. Such efforts would also promote research and development and support better outcomes for patients with complex and rare conditions.Prospero registration numberCRD42021252701.

Dataset Information

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

Introduction

Methods and analysis

Ethics and dissemination

Prospero registration number

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets