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Rare disease CRO services, deep lab experience and a passion to help patients in need

Rare disease studies are high-stakes and high-complexity environments. Contact us

Rare disease trials require a partner that can think quickly and creatively to solve unique problems. Across the spectrum of rare and orphan diseases, including ultra-rare indications, Precision for Medicine excels at providing rarefied solutions to solve the most complex of challenges.

A global CRO researching the depths of rare diseases

The clinical trials of rare and orphan diseases come with urgency and responsibility to extract the most meaningful data from every patient interaction and sample. This means breaking new ground and pioneering clinical research in areas yet to be investigated. Partner with an agile and creative CRO capable of Rarefied Thinking.

Clinical Operations
Rare disease research is our passion and complexity, our playground. 

From ultra-rare and pediatrics to cell and gene therapies, our extensive experience running rare disease clinical trials requires a personalized approach to each study, bringing your project from research to realization. 

Whether it's a child's first chance or a family's last resort, patient outcomes are the heartbeat of our passion. Across each operational stage, we are an extension of your team, delivering the right skill set to the right role for your study's unique needs.

CRO Trial Services >

Specialty Labs
Generating rich biomarker data to maximize rare disease insights. 

Every clinical sample in a rare disease trial is precious. Precision's expertise in developing complex assays for any tissue type—and the global footprint of labs to ship and process samples from any clinical trial location—are ideally suited to support the needs of rare disease trials.  

Our comprehensive approach starts with a foundation of expertise in key biomarker discovery and analysis methods, such as immune monitoring, genomics, and bioanalysis. We then specialize in developing new technologies and customized approaches for biomarker assay to generate rich, multi-omic biomarker data. 

Specialty Labs >

Rare populations face uncommon challenges.  

95% of rare diseases have no available treatments. Finding and supporting rare patients requires dedication and persistence, especially when researching the depths of rare and ultra-rare indications. Collaboration and creativity are not optional; they're required.  

50% of rare disease impacts pediatric populations. Fielding patient and caregiver-centric solutions to maximize awareness and participation is a must. Finding and communicating with social and advocacy groups, building study portals, leveraging decentralized clinical trial (DCT) strategies, and coordinating with concierge travel services are often the essential elements required in rare research. We have a long and successful history of crafting rarefied solutions to make rare research a possibility for the patients and sponsors we serve.   

Rarefied solutions for sites studying rare diseases.

For investigators, participation in rare disease clinical trials can increase daily demands, staff expectations and create logistical challenges.

Providing solutions and tools to ease study participation, support patient education, enrollment, and patient retention is critical to your study’s success. Rare clinical trials require specialized tools and solutions, including:

  • Proven decentralized strategies tested in rare environments
  • Genetic counseling support and mining of database networks
  • Crafting custom patient engagement campaigns for rare, orphan, and ultra-rare diseases
Simplify rare clinical sample management and gain richer insights.

Every clinical sample in a rare disease trial is precious. Ensuring proper collection, processing, logistics, and storage of these samples requires a central lab services approach. One tailored to meet all sponsor needs, including custom kit production, rapid global sample processing, and more. Learn about Precision’s harmonized approach, featuring our virtual Sample Inventory Management solution for monitoring samples and derivatives across multiple sites, labs, courier services, and repositories with 24/7 access to shipment tracking and sample status.

Central Lab Services >

Regulatory Affairs
Navigate regulatory pathways with rare efficiency.

The rare disease regulatory environment is nuanced and often competitive, with peers also targeting your rare indication. We understand how to optimize your clinical development plan strategy in coordination with your planned regulatory pathway.

With the right combination of regulatory, medical, biometric, and translational consultancy, we leave nothing open to interpretation.

Regulatory Services >

Data Management
Efficient and effective data collection solutions to support rare research.

Despite small patient populations, rare clinical trials generate large and complex datasets.

From unique endpoint support to incorporating intricate data streams from numerous qualified vendors, Precision’s rarefied experts craft custom clinical data management solutions that are creative, efficient, and effective, meeting the needs of patients, sites, and sponsors.

Clinical Data Management >

Extracting rich insights from rare study data.

Put your project on the pathway to approval. From designing statistical solutions to analyzing the results of studies with small sample sizes and unique endpoints, rare data sets are our specialty.

Across rare, orphan, and ultra-rare indications, our biostatistical experts can help to define rare endpoints, assess the inclusion of specialized biostatistical techniques, identify surrogate endpoints, and more.

Biostatistics Services >

Advancing biomanufacturing strategy & execution in Rare Disease

Precision manufacturing consulting is focused on providing bespoke biomanufacturing strategy and execution plans for pharma and biotechs, advanced therapy organizations, financial institutions, academia, and others pursuing the development of advanced therapies.

Services include:

  • turnkey capital projects tech transfers, and facility builds
  • owner’s representation
  • program/project management
  • validation
  • quality, regulatory, and compliance
  • engineering and automation
  • serialization track and trace
  • reliability and maintenance
  • asset management and more

Precision has pioneered the industrialization of the first-ever approved rare diseases and led 60+ facility builds with a total spend of over $6B. 

Manufacturing Solutions >

Establish evidence for rare development and commercialization.

Precision’s HEOR team has a long history of success supporting value demonstration for rare disease investigational products that are often first to market. In rare diseases, it’s even more critical to generate strategic, innovative, credible, and relevant supporting evidence for 5 successful commercialization.

When pharma or biotech Sponsors are pioneering new therapies, starting HEOR planning in early phase is vital. Precision provides strategic planning support along with specific research services including systematic literature reviews, network meta-analyses, economic models and microsimulations, and analysis and generation of real-world evidence.

HEOR Services >

200+ Rare projects
100+ Rare indications

For more than a decade, Precision has been making a difference in rare disease, charting new territories in ultra-rare indications, pioneering orphan disease programs, and efficiently executing natural history studies.

    • A1ATD
    • Age-related Macular Degeneration
    • Alport Syndrome
    • Amyotrophic Lateral Sclerosis
    • Autism Spectrum Disorders
    • Dravet Syndrome
    • Duchenne Muscular Dystrophy
    • Fabry Disease
    • Fragile X Syndrome
    • Friedrich’s ataxia
    • Gaucher Disease
    • HAE
    • Hereditary Inclusion Body Myopathy
    • Multiple Sclerosis
    • Neuro-autoimmune
    • Neuromuscular Disorder
    • Neuro-Ophthalmology
    • Niemann-Pick Type C1 Disease
    • PAH
    • PNH
    • Pompe Disease
    • Prader Willi Syndrome
    • Rare Genetic Syndromes
    • Retinal vein occlusion
    • Rett Syndrome
    • Stargardt’s Disease
    • Uveitis
    • X-Linked Myotubular Myopathy
Case Study

Investigating A Rare Pediatric Neurological Disorder

Watch how Precision went above and beyond to meet the needs of a vulnerable patient population while managing multiple trials in a Rare Disease program. Creative and comprehensive DCT strategies played a key role in managing this dynamic program which ultimately led to FDA approval, despite a slew of global challenges.

Rare disease CRO case studies

Experience matters in rare research Precision’s dedicated staff consistently delivers the creativity, collaboration, and agility necessary to surmount the unique challenges confronted when conducting clinical trials in rare diseases.

Download eBook
  • Alport Syndrome

    Alport Syndrome

    Alport Syndrome

    Services Provided:

    Study Design(s):
    Natural History & Phase II Program

    Patient Population:
    Child to Adult

  • Rett Syndrome

    Rett Syndrome

    Rett Syndrome

    Services Provided:
    Project Management, Clinical Monitoring, Medical Monitoring, Site Start-up, and Management

    Study Design(s):
    Phase III pivotal, Open-Label Extension, Long term exposure, and Pediatric Open Label

    Patient Population:
    2 to 20 years old

  • Metabolic Disorder

    Metabolic Disorder

    Inherited Metabolic Disorder

    Services Provided:
    Biostatistical Consulting on Efficacy, Endpoint Consideration for Approval


Cell and Gene therapy experts

90+ cell and gene therapy projects.

Delivering a cell or gene therapy to market requires a nuanced, comprehensive, and integrated approach, strategic problem-solving, and the right partner.

Since 2013, Precision’s interdisciplinary, cell and gene therapy consulting teams have been advancing clinical, manufacturing, and commercialization solutions to help innovators like you transform patient lives.

Recent Oncology articles

Hard-earned insights from a rare disease CRO

Rare disease research is a high-stakes, high-complexity endeavor. With a significant percentage of global biotech and pharmaceutical companies pursuing therapies in the rare disease space, competition is fierce. 

Here, Precision experts outline key lessons learned from their experience working on more than 200 rare disease clinical trials. 

Specialized capabilities in every stage of clinical development

An integrated infrastructure that reduces the inefficiencies inherent in complex development. Combine lab and trial services to increase speed to market. Incorporate manufacturing expertise into cell and gene studies to ensure scalability. Precision can customize and converge our capabilities for each program's unique needs.

  • clinical-trial-support

    Global CRO Services

    A recognized leader in oncology and rare diseases with rich experience in complex trials

  • specialty-lab-services


    Experts in translational and biomarker sciences with worldwide specialty labs and central lab services that are enabling breakthroughs.

  • manufacturing

    Manufacturing Solutions

    Proven pioneer in planning, building and maintaining complex manufacturing facilities for biotech and large pharma.