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Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.

Sonia Pavan1, Kathrin Rommel2, María Elena Mateo Marquina3

  • 1Inserm, US14 - Orphanet, Paris, France.

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|January 19, 2017
PubMed
Summary
This summary is machine-generated.

Orphanet provides evaluated clinical practice guidelines (CPGs) for rare diseases (RDs) to improve patient care. This initiative ensures access to high-quality, reliable CPGs for healthcare professionals managing rare conditions.

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Area of Science:

  • Medical Informatics
  • Rare Disease Management
  • Clinical Practice Guidelines

Background:

  • Clinical practice guidelines (CPGs) for rare diseases (RDs) are often scarce and difficult to find online.
  • The quality of available CPGs can vary significantly based on their source and methodology.
  • Improving access to reliable CPGs is crucial for enhancing the diagnosis, treatment, and care of patients with rare diseases.

Purpose of the Study:

  • To establish a systematic procedure for selecting, evaluating, and disseminating CPGs for rare diseases.
  • To provide easy access to relevant, accurate, and specific recommendations for managing rare diseases.
  • To analyze the characteristics and quality of available CPGs for rare diseases.

Main Methods:

  • CPGs were identified through bibliographic databases, research networks, expert centers, and medical societies.
  • Guideline quality was assessed using criteria derived from the Appraisal of Guidelines, REsearch and Evaluation (AGREE II) Instrument.
  • Only open-access CPGs with copyright holder permission were disseminated on the Orphanet website.

Main Results:

  • From January 2012 to July 2015, Orphanet disseminated 277 CPGs covering 1,122 rare disease entities.
  • CPGs were available in 10 languages, with English, French, and German predominating (92%).
  • Diseases covered by CPGs frequently included rare oncologic, neurologic, hematologic conditions, and developmental anomalies.

Conclusions:

  • The Orphanet project offers a continuous process for collecting, evaluating, and disseminating high-quality CPGs for rare diseases.
  • This initiative enhances the availability of reliable management recommendations for rare conditions.
  • Integrated into the Orphanet database, these CPGs support patients, researchers, and healthcare professionals globally.