Rare disease specialists
- Deep scientific and operational expertise across rare and ultra-rare indications
- Support across preclinical, phase I-IV, and post-approval studies
- Experience navigating small patient populations and complex endpoints
Specialist Rare Disease CRO Services for Orphan Drug, Gene Therapy and Ultra-rare Trials
Specialized laboratory and clinical expertise to support rare and ultra-rare disease programs, from discovery through late-phase development.
Connecting data to drive rare disease breakthroughs
Rare disease research is advancing rapidly, driven by breakthroughs in genomics, cell and gene therapy, and precision medicine. These innovations are creating new possibilities for patients, but they also introduce scientific and operational complexity.
Small, geographically dispersed patient populations, heterogeneous disease biology, and limited historical data can make it difficult to define endpoints, identify patients, and generate robust evidence.
We work with you to turn complexity into confident decisions. As an extension of your team, we combine scientific expertise with integrated laboratory and clinical capabilities to deliver decision-ready data across rare and ultra-rare disease programs.
Our experience spans hematological malignancies, rare infectious diseases, immunological and inflammatory disorders, hematologic conditions, and neurological diseases, supporting programs from early discovery through late-phase trials and post-approval studies.
By connecting molecular, cellular, protein, tissue, and safety testing within a harmonized global network, we reduce variability, accelerate timelines, and help you move forward with confidence – when every patient and every data point counts.
How we support complex rare disease programs
Integrated specialty laboratory solutions
- End-to-end capabilities across DNA/RNA, protein, cell, tissue, and safety testing
- Histopathology services, including immunohistochemistry (IHC) and specialized stains
- Custom assay development tailored to rare disease biology
- Strategies aligned to regulatory expectations and study objectives
Advanced molecular and cellular technologies
- Next-generation sequencing (NGS) and long-read sequencing
- High-parameter flow cytometry and immune profiling
- Spatial biology, digital pathology, and advanced image analysis
Seamless global execution
- Harmonized global laboratory network with standardized workflows
- Central laboratory operations, logistics, and kit management
- Consistent data quality across regions and study phases
Supporting your rare disease development strategy
By combining scientific expertise with advanced technologies, we generate high-quality, reliable data to help you reduce uncertainty, meet regulatory expectations, and make confident decisions at every stage.
Molecular and genomics
Understanding the genetic basis of rare diseases is critical for accurate diagnosis, patient stratification, and targeted therapeutic development. We deliver high-quality molecular and genomic data to support both exploratory research and clinical endpoints.
Key capabilities include:
- NGS, including whole exome, whole genome, and RNA sequencing
- Sequencing using Oxford Nanopore technology
- Custom and standardized gene panels for rare and hereditary diseases
- qPCR and ddPCR for sensitive mutation and biomarker detection
- T-cell receptor (TCR) and B-cell receptor (BCR) sequencing for immune repertoire analysis
- HLA typing for patient selection and safety assessment
- Bioinformatics pipelines supporting structured data analysis and reporting
Immunogenicity and immune profiling
Characterizing immune response is critical across many rare diseases, particularly in autoimmune, inflammatory, infectious, and cell and gene therapy programs. We design immunogenicity strategies aligned to your endpoints, providing meaningful insight into efficacy and safety.
Key capabilities include:
- Multiplex cytokine profiling (up to 37-plex)
- Ligand-binding assays (ELISA, MSD, ELLA, and more)
- Anti-drug antibody (ADA) and neutralizing antibody (NAb) assays
- ELISpot and FluoroSpot for antigen-specific cellular responses
- Intracellular cytokine staining and receptor occupancy assays
Cell and flow cytometry
Cellular analysis plays a central role in rare hematological, immunological, and cell and gene therapy programs. Our advanced flow cytometry platforms enable deep immune and cellular characterization across global trials.
Key capabilities include:
- Spectral and conventional flow cytometry for detailed immunophenotyping
- High-parameter flow cytometry
- Enhanced high-dimensional immune profiling, combining spectral flow cytometry with AI-driven analytics
- CAR-T cell enumeration and phenotyping
- Receptor occupancy and activation marker analysis
- PBMC and bone marrow mononuclear cell (BMMC) isolation and cryopreservation
- Harmonized panels with standardized analysis approaches
Tissue and spatial biology
Tissue-based insights are essential for understanding disease mechanisms and therapeutic impact in rare disorders. We deliver integrated histopathology and spatial biology workflows supported by expert interpretation.
Key capabilities include:
- Singleplex and multiplex IHC with 250+ antibodies and protocols
- Digital pathology and image analysis with Halo® and Visiopharm®
- Spatial profiling with NanoString® GeoMx® and Akoya Phenolmager
- Fluorescence in-situ hybridization (FISH) and in-situ hybridization (ISH), and RNAscope®
- Board-certified pathology review
- Tissue biorepository services
Operations and logistics
Rare disease trials require precise coordination, particularly with small and geographically dispersed patient populations. We manage operational complexity to ensure consistency, speed, and full visibility across your study.
Key capabilities include:
- Global sample logistics, including temperature-controlled and specialty shipments
- Custom clinical trial kit design, production, and global distribution
- Pre-labelled kits and standardized lab manuals
- Integration of central and specialty laboratory testing
- Biorepository services for compliant sample storage and traceability
- Rapid turnaround times to support time-sensitive clinical decisions
Gene therapy and AAV
Supporting gene therapy [link when page is created] programs requires specialized assays, rapid turnaround, and global coordination. We provide comprehensive support for AAV-based and other gene therapy modalities, from early development through clinical trials.
Key capabilities include:
- Anti-AAV antibody screening and monitoring
- Neutralizing antibody assays to assess pre-existing immunity
- Pharmacokinetic (PK), ADA, and bioanalytical testing
- Flow cytometry and immune profiling
- Molecular and genomic assays (NGS, qPCR, ddPCR)
- Rapid turnaround testing to support time-sensitive treatment decisions
- Global logistics and 24/7 support for urgent sample handling
Experience that delivers results
~260
rare disease clinical trials supported
~41,200
patients randomized
~47,300
patients screened globally
75%+
of trials include specialty testing
47
market authorizations and expansions supported
Global labs and Centers of Excellence for rare disease trials
Our global network of harmonized laboratories is built to support rare disease studies wherever they take place. With shared workflows across regions, we help reduce variability, keep studies moving, and make the most of every sample.
Flow cytometry:
United States, Belgium, Taiwan, China, Australia
Genomics and genetics:
France, Netherlands, United States, Canada, Taiwan
Technologies supporting rare disease research
We bring together molecular, genomic, immunological, cellular, and tissue-based technologies to generate data that reflects real disease biology – even when patient numbers are small.
Next-generation sequencing (NGS) (Illumina®)
Long-read sequencing (Oxford Nanopore Technologies™)
Conventional flow cytometry (BD FACSLyric™)
High‑parameter flow cytometry (Cytek® Aurora)
AI-driven analytics for flow cytometry (Ozette)
Spatial biology and digital spatial profiling (NanoString® GeoMx®)
Related specialized services
Biomarkers
Improve your chances of success with our personalized approach to biomarker assay development and validation. Partner with our leading scientists across a five-continent laboratory network to generate early scientific insights that optimize your protocol and provide insight into the most suitable biomarkers and assays for your rare disease studies.
Immunoassays
Outsource your research questions, including efficacy, safety, passive immunization, immunogenicity, pharmacokinetics, pathogenicity, antiviral therapy, antiviral prophylaxis, drug delivery, resistance mutants, and more.
Flow cytometry
Generate deep immune cell insights with advanced flow cytometry. We support you with designing, developing, and validating custom-made flow cytometry panels. From immunophenotyping and immune activation to receptor occupancy and CAR-T monitoring, learn how our expertise supports your oncology studies, from preclinical research to phase IV trials.
Assay development and technology transfer
Design and implement molecular assays tailored to your rare disease program. From early development through validation and transfer, discover how specialty assays can be optimized to address the complexity of these conditions.
Next generation sequencing (NGS)
Unlock critical genomic insights for your rare disease research. Explore how NGS assays support analysis, helping you uncover actionable genomic information from your specimens.
Bioinformatics
Access timely, high-quality data in the right formats to ensure clinical trial success. Our team of experienced scientists and bioinformaticians work together to provide fully GxP and FDA-compliant pipelines that have been scientifically validated.
More rare disease insights
Unlocking the Potential of Rare Disease Drug Development
Rare diseases are one of the most complex frontiers in medicine. This fact sheet highlights how advanced laboratory capabilities, global trial expertise, and cutting-edge technologies are accelerating orphan drug development, offering new hope for patients and sponsors across the rare disease landscape.
Safety Testing Oncolytic Viral Therapies by Monitoring Replication and Shedding Competency
Oncolytic viral therapies offer powerful new options for rare and hard-to-treat cancers. This poster outlines highly sensitive assays to monitor viral shedding and detect replication-competent viruses, supporting rigorous safety oversight in clinical trials and responsible advancement of oncolytic and gene therapies.
Navigating Viral Integration Landscapes with CRISPR-Cas9 and Long-Read Sequencing
As gene therapies advance in rare, complex diseases, understanding where therapeutic genes integrate into the genome is critical for safety. This poster explores a CRISPR-Cas9–guided, long-read sequencing approach to precisely map viral integration sites for safer lentiviral and CAR-T therapies.
Discover our peer-reviewed research, congress proceedings, and scientific insights for rare disease research.
