Article type
Abstract
Background: Rare disease, also known as orphan disease, is a general term for diseases with extremely low incidence rate and few patients. So far, >10,000 rare diseases have been identified globally. It is estimated that between 260 million to 450 million people worldwide are affected by rare diseases. However, difficulties such as recruiting rare disease patients, lack of understanding of the natural progression of diseases, small numbers within rare disease patient communities, significant clinical heterogeneity, and the absence of sensitive outcome indicators have led to a scarcity of high-quality clinical research on rare diseases. Therefore, some questions about the diagnosis and treatment of rare diseases have been raised. How many rare diseases have clear diagnosis and treatment methods? How many published guidelines are there of rare diseases? How do these guidelines apply existing evidence related to rare diseases? Can the quality of these guidelines meet the diagnostic and treatment needs of rare diseases? Among rare diseases, rare neurologic diseases have the highest number and are the most representative. Therefore, we will conduct a study on rare neurologic diseases to try to answer the above questions.
Objective: This article aims to understand the publication and application of evidence on rare neurologic diseases and assess the methodological and reporting quality of their guidelines.
Methods: The articles will be retrieved from PubMed, Trip Medical Database, and CNKI. The studies for rare neurologic diseases are eligible. We only include the articles in English or Chinese. These studies will be selected manually and assessed by 2 independent reviewers, and any objection was consulted by a third reviewer. The evidence gap map will be used to display the evidence and application status of rare neurological diseases. The AGREE II was used to reflect the methodological quality of guidelines, and the RIGHT checklist was adopted to assess their reporting quality.
Results: The result will be finished before August 2024.
Conclusion: This review will help us to comprehensively understand the current status of rare neurologic diseases and their studies, identify their existing issues, and promote their development.
Objective: This article aims to understand the publication and application of evidence on rare neurologic diseases and assess the methodological and reporting quality of their guidelines.
Methods: The articles will be retrieved from PubMed, Trip Medical Database, and CNKI. The studies for rare neurologic diseases are eligible. We only include the articles in English or Chinese. These studies will be selected manually and assessed by 2 independent reviewers, and any objection was consulted by a third reviewer. The evidence gap map will be used to display the evidence and application status of rare neurological diseases. The AGREE II was used to reflect the methodological quality of guidelines, and the RIGHT checklist was adopted to assess their reporting quality.
Results: The result will be finished before August 2024.
Conclusion: This review will help us to comprehensively understand the current status of rare neurologic diseases and their studies, identify their existing issues, and promote their development.