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Methodology Services for Rare Disease Research

Designing clinical studies for rare diseases comes with unique challenges. Each patient often contributes a rich and complex medical story but the number of patients is small. This leads to data that are diverse, detailed, and sometimes incomplete. To turn this complexity into scientific strength, we provide advanced methodological support for researchers across Europe .

By bringing together specialists in biostatistics, epidemiology, data science, artificial intelligence, and machine learning, we aim to empower clinical research networks and healthcare centres with the best tools to conduct high-quality studies in rare diseases.​

Our goal is to turn complex data into clear answers that benefit patients living with rare diseases.​

How We Work With You

We offer hands-on expertise directly to research teams within ERDERA or with funded projects conducting clinical trials or working with real-world evidence. We also work closely with regulatory specialists to explore qualification pathways for innovative methods, helping them gain recognition and adoption across Europe. Get in touch with us for additional information.

What We Do

Our teams across different institutions in Europe help research groups choose and apply the most suitable study designs and statistical methods for rare disease research.

We support projects using:

  • Clinical trials
  • Real-World Data, including registries and epidemiological studies
  • Mixed data sources, combining clinical and real-world evidence

We use a wide range of cutting-edge methods such as Bayesian and likelihood-based approaches, randomization techniques, and modern comparison tools, to ensure analyses are robust, precise and tailored to small populations.

Why It Matters

Over the past decade, European collaborations have shown that adapted methodologies dramatically improve the value of clinical studies for rare diseases. Building on this strong foundation, our service accelerates:

  • The implementation of proven methods developed specifically for small populations
  • The development of new approaches where gaps and unmet needs remain

This helps ensure that promising innovations reach clinical teams and patients more efficiently.

Relevant Publications and Resources

Pharmacometrics

A Pharmacometrics-Informed Trial Simulation Framework for Optimizing Study Designs for Disease-Modifying Treatments in Rare Neurological Disorders

A new simulation framework leverages pharmacometrics to optimise clinical trial designs for disease-modifying treatments in rare neurological conditions.
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Reflection on clinical and methodological issues in rare disease clinical trials

Experts provide a comprehensive reflection on the unique clinical and methodological challenges inherent in designing and executing trials for rare diseases.
Epilepsy & Behaviour

Dravet syndrome: Insights into seizure and speech progression from registry data

Analysis of registry data offers critical insights into the progression of seizures and speech development in patients with Dravet syndrome.

The ERDERA Innovation Management Toolbox

Explore connected resources via an interactive interface that visually represents relationships between datasets, samples, and research projects.

FAQ Section

Useful when looking for something specific or attempting to navigate processes.

Contact the Methodoloy Services

Get in touch with our pool of experts.

You might also be interested in

Publicaciones (1)

EU rare disease action plan- European Added Value Assessment

This study investigates possible measures that could be taken at EU level to address these challenges. It finds significant European added value in harmonising coordination and access across the 27 Member States, mainly in terms of improved diagnostic tools and availability of medical treatment, better health outcomes, particularly lower infant mortality, and improved well-being of family members and caregivers.
Medicines

EMA starts review of Tavneos for rare autoimmune diseases GPA and MPA

The European Medicines Agency has begun a formal review of Tavneos (avacopan) after emerging information raised questions about the integrity of key clinical trial data supporting its EU authorisation, with potential implications for adults living with rare autoimmune vasculitis.
Young Patients Training

ERDERA opens call for young rare disease advocates to join training in Paris

Taking place on 23–25 April at Institut Imagine in Paris
Scientific paper

Human genomics technologies in clinical studies – the research landscape: report on the 1990–2024 period

Published on 14 December, this WHO technical document maps global trends in registered clinical studies using human genomic technologies from 1990 to 2024, including patterns of inclusion and equity.

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