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Background <p>Researching rare disease (RD) knowledge is often labor-intensive and requires familiarity with a wide array of national and international databases, making it impractical in routine clinical settings and frequently insufficient. To address the gap between diagnosis and the urgent need for information on diagnosis-informed therapy and care management, the Clinical Information Center for Rare Diseases (KLINSE) was established in 2021 at the Center for Rare Diseases Tübingen. Designed as a clinician-to-clinician service, KLINSE provides up-to-date clinical knowledge and management recommendations for RDs in a timely and structured manner.</p> Results <p>Between its start of operation in May 2021 and November 2023, KLINSE received 100 case submissions, of which 88 were accepted for processing. The majority involved ultra-rare diseases (prevalence &lt; 1:1,000,000) and predominantly affected children and adolescents. In 58% of cases, KLINSE was contacted within one year of genetic diagnosis, while delays of up to 10 years were noted in others. KLINSE supplied information specifically requested by referring clinicians and additionally provided unsolicited yet clinically relevant insights. The most common inquiries related to treatment options, clinical trials and registries, centers of expertise, and patient organizations. Standardized feedback highlighted KLINSE’s high utility and value to clinical practice.</p> Conclusion <p>Our findings underscore persistent deficits in accessible disease-specific information for rare conditions. The positive reception of KLINSE demonstrates the critical role of low-threshold, expert-driven services in enhancing patient care and easing the burden on clinicians managing complex RD cases.</p>

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KLINSE: a comprehensive service model for rare disease information and care management support

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月31日

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  • Katrin Jäger,
  • Elke Dannenmann-Stern,
  • Sevda Inbasi,
  • Ute Grasshoff,
  • Christina Vossler-Wolf,
  • Holm Graessner

摘要

Background

Researching rare disease (RD) knowledge is often labor-intensive and requires familiarity with a wide array of national and international databases, making it impractical in routine clinical settings and frequently insufficient. To address the gap between diagnosis and the urgent need for information on diagnosis-informed therapy and care management, the Clinical Information Center for Rare Diseases (KLINSE) was established in 2021 at the Center for Rare Diseases Tübingen. Designed as a clinician-to-clinician service, KLINSE provides up-to-date clinical knowledge and management recommendations for RDs in a timely and structured manner.

Results

Between its start of operation in May 2021 and November 2023, KLINSE received 100 case submissions, of which 88 were accepted for processing. The majority involved ultra-rare diseases (prevalence < 1:1,000,000) and predominantly affected children and adolescents. In 58% of cases, KLINSE was contacted within one year of genetic diagnosis, while delays of up to 10 years were noted in others. KLINSE supplied information specifically requested by referring clinicians and additionally provided unsolicited yet clinically relevant insights. The most common inquiries related to treatment options, clinical trials and registries, centers of expertise, and patient organizations. Standardized feedback highlighted KLINSE’s high utility and value to clinical practice.

Conclusion

Our findings underscore persistent deficits in accessible disease-specific information for rare conditions. The positive reception of KLINSE demonstrates the critical role of low-threshold, expert-driven services in enhancing patient care and easing the burden on clinicians managing complex RD cases.