Access Rare Disease Samples from Patients Worldwide
Labtoo provides access to high-quality rare disease biological samples, including blood, tissues, and other biospecimens from patients with genetic and orphan diseases. Our European and worldwide network enables the sourcing of samples from a wide range of rare conditions, supporting clinical and translational research in areas such as lysosomal storage disorders, muscular dystrophies, and rare autoimmune diseases. All samples are collected under strict ethical protocols and tailored to your project’s specific criteria.
Rare diseases have a low prevalence, and therefore the lack of patients can become an additional challenge for the development of new drugs. Although biological samples for common diseases can often be found in repositories, R&D projects for drug development and diagnostics assay development for rare diseases may require support for their biological sample sourcing.
This is why Labtoo developed a unique, tailor-made service to support Labs, Biotechs, Medtech, and Pharma companies in their procurement of samples.
Labtoo can be mandated in a fully customized mission to look for any type of human or non-human biospecimen, fresh tissues, Formalin-Fixed Paraffin-Embedded (FFPE tissues), or frozen in common or rare diseases. We work with a large network of partners to look for the best samples according to specific needs, with all regulatory and legal requirements handled.
As we do not use a catalog solution, our team will identify samples already in sample biobanks or collections, if possible, and compatible with the requirements of the project. A prospective clinical collection can also be started when necessary.
Types of Rare Diseases Biological Samples Available
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Tissues
- Fresh tissues
- Frozen tissues (OCT and FF)
- FFPE tissues
- Adjacent healthy tissues
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Blood and derivatives
- Whole blood
- PBMC
- Plasma
- Serum
- Leukapheresis
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Other biological fluids
- Urine
- Stool/Feces
- Ascites Fluid
- Saliva
- Sputum
- Synovial Fluid
- Cerebrospinal Fluid (CSF)
Type of Collections
- Retrospective: we can look into existing biobank collections
- Prospective: we can set up clinical collection specific for a given project
Typical deliverables
- Feasibility of availability of biosamples from rare disease patients (retrospectively and prospectively)
- Regulatory aspects (transfer authorizations, export authorizations, ethics committee agreement)
- Contracting
- Samples shipment
- Clinical data
- Matching tissues or samples (like Plasma or serum) as specified in the request
- Other services (i.e. Nucleic acid extraction)
- Clinical patient information as required
Request customized rare disease biospecimens today to advance your research
Please answer the fields below to be contacted by our team of scientists
Our team will handle your rare disease sample procurement from the beginning to the end
Perform a feasibility study by looking for orphan disease biospecimens already in collections & ready to be transferred
Set up a clinical biological collection and preparing contracts with sources
Assist the material transfer from the source to the lab, including treatments, QA or shipping, as needed
What are rare disease biological samples?
Rare disease biological samples are human biospecimens—such as blood, tissue, plasma, or DNA—collected from individuals diagnosed with rare or orphan diseases. These samples are essential for understanding disease mechanisms, developing diagnostics, and evaluating potential treatments.
Where can rare disease patient samples be sourced from?
Labtoo facilitates access to rare disease biospecimens through a global network of clinical sites, hospitals, and biobanks. Collections can be coordinated across Europe, North America, and selected international locations, depending on the pathology and sample type.
How long does it take to collect rare disease samples?
Timelines vary based on the disease, inclusion criteria, and geographic scope. Feasibility assessments are typically delivered within a few days, and collection timelines range from a few weeks to several months depending on complexity.
What types of biospecimens can be collected from rare disease patients?
Available sample types include:
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Whole blood and derivatives (plasma, serum, PBMCs)
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DNA and RNA
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Tissue biopsies (e.g. skin, muscle, tumor)
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Saliva, urine, and cerebrospinal fluid (CSF), depending on pathology
Are the sample collections ethically approved?
Yes. All collections are conducted under strict ethical protocols, with informed consent from donors or legal guardians, and data is collected in compliance with local and international regulations such as GDPR.
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