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Ségolène Gaillard1, Laurent Roche2, Georges Deschênes3

  • 1Hospices civils de Lyon, EPICIME-CIC 1407 de Lyon, Inserm, department of clinical epidemiology, CHU-Lyon, 69677 Bron, France; Université de Lyon 1, 69000 Lyon, France.

Therapie
|April 7, 2020
PubMed
Summary

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This summary is machine-generated.

Successful collaboration in nephropathic cystinosis (NC) research involved academics, industry, and patient groups. Early patient involvement was key to successful clinical trials and treatment availability for this rare disease.

Area of Science:

  • Rare disease research
  • Clinical trial management
  • Patient advocacy

Background:

  • Nephropathic cystinosis (NC) affects a small, dispersed population, posing significant research challenges.
  • Implementing effective clinical research designs and patient recruitment is difficult in rare diseases.
  • Collaborative, multidisciplinary approaches are essential for rare disease research success.

Purpose of the Study:

  • To provide an overview of a successful collaboration in nephropathic cystinosis (NC) research.
  • To identify the key factors contributing to the success of interactions between academics, pharmaceutical companies, and patient organizations.
  • To highlight the importance of patient involvement in rare disease research.

Main Methods:

  • Overview of a collaboration involving academics, a pharmaceutical company, and patient organizations for nephropathic cystinosis (NC).
Keywords:
Clinical researchMultidisciplinary approachNephropathic cystinosisPatient advocacyRare diseases

Related Experiment Videos

  • Studies implemented in France coordinated by a disease expert and a clinical investigation center.
  • Focus on interactions and patient recruitment strategies.

    • Main Results:

    • Successful collaboration led to good patient recruitment and retention in the study.
    • The new formulation of cysteamine became available in France.
    • Early patient involvement facilitated the research process.

    Conclusions:

    • Patient involvement in early research stages is crucial for rare diseases, leveraging patient knowledge and expectations.
    • Collaborative definition of research priorities, trial design, conduct, and reporting is vital.
    • The concept of early patient and public engagement requires further development, especially for pediatric patients.