Rare Disease CRO Services

Recognized by Fierce Biotech for excellence in 2025 and 2026

Overcome rare disease development risk with integrated clinical, regulatory, and biomarker strategies designed for small populations, from natural history through regulatory submission.

Global Rare Disease CRO: From Orphan to Ultra-Rare Indications

Rare disease programs face constraints that generalist CROs are not built for, from small populations and limited natural history data to regulatory pathways requiring early, specialized engagement. Precision for Medicine integrates clinical operations with specialty laboratory and regulatory expertise to generate meaningful data earlier and advance programs efficiently end to end.

Regulatory & Scientific Strategy

Early regulatory planning aligned to biomarker-driven patient identification, natural history design, and fit-for-purpose endpoints.
Orphan designation, fast track, and breakthrough considerations are built in early to support downstream approval paths.

Clinical Development Strategy

Clinical development models purpose-built for small populations, including adaptive and single-arm designs, natural history integration, and basket strategies, as well as decentralized and hybrid approaches to reduce patient burden and expand geographic access.

Data & Translational Science

Small-population biostatistics, real-world evidence integration, and translational biomarker planning support confident decision-making when large control groups are not feasible.
Specialized endpoint development and external control strategies for interpretable evidence under real-world constraints.

Rare Disease Services Built Around Your Program

Rare disease trials are not scaled-down versions of common indications. At Precision, they are custom-built around the realities of limited patients, evolving natural history, and regulatory expectations that require earlier coordination and tighter execution.

Study Design
Study Design

Trial Design for Small Populations
- Trial designs tailored for rare and ultra-rare indications, including adaptive frameworks, single-arm studies, basket designs, and natural history integration.
- Dedicated biostatistics and medical monitoring expertise support endpoint selection and analysis strategies appropriate for limited enrollment and heterogeneous populations.
Global Execution
Global Execution

Global Clinical Operations
- Clinical operations designed to accelerate rare disease enrollment wherever patients can be identified.
- Global execution capabilities supporting studies across regions, healthcare systems, and regulatory environments, with site strategies centered on experienced academic centers, engaged investigators, and protocols tailored for small, dispersed populations.
Regulatory Strategy
Regulatory Strategy

Regulatory Strategy & Designations
- Regulatory strategy integrated directly into clinical development planning for rare disease programs.
- Precision teams ensure early engagement considerations, designation strategy, and submission planning are aligned with study design and data generation to support regulatory expectations without introducing avoidable delays.
Patient Engagement
Patient Engagement

Decentralized trial approaches
- Patient-centric operational approaches designed to reduce participation burden for rare disease patients and caregivers.
- Decentralized and hybrid trial elements are applied selectively to improve access, support retention, and maintain data quality across geographically dispersed populations.

Pediatric Rare Disease

Pediatric enrollment strategies designed around children and families, supported by global execution across diverse regulatory settings and experienced pediatric trial sites.

Pediatric Rare Disease

Pediatric enrollment strategies designed around children and families, supported by global execution across diverse regulatory settings and experienced pediatric trial sites.
Ultra-Rare Indications

Development strategies designed for ultra‑rare conditions where patient numbers are extremely limited and traditional trial designs are not feasible.

Ultra-Rare Indications

Development strategies designed for ultra‑rare conditions where patient numbers are extremely limited and traditional trial designs are not feasible.
Rare Genetic Disorders

Biomarker-driven development for monogenic and complex genetic conditions, supporting accurate patient identification and endpoint selection in heterogeneous diseases.

Rare Genetic Disorders

Biomarker-driven development for monogenic and complex genetic conditions, supporting accurate patient identification and endpoint selection in heterogeneous diseases.
Rare Neurological Disorders

Clinical development support for rare neurological and neuromuscular conditions with complex progression and challenging endpoint requirements.

Rare Neurological Disorders

Clinical development support for rare neurological and neuromuscular conditions with complex progression and challenging endpoint requirements.
Rare Metabolic Diseases

Development expertise across rare metabolic disorders requiring precise biochemical endpoints and long-term safety monitoring.

Rare Metabolic Diseases

Development expertise across rare metabolic disorders requiring precise biochemical endpoints and long-term safety monitoring.
Rare Autoimmune Diseases

Development strategies for rare autoimmune and immune-mediated conditions with variable presentation and limited patient availability.

Rare Autoimmune Diseases

Development strategies for rare autoimmune and immune-mediated conditions with variable presentation and limited patient availability.

Navigating Rare Disease Regulatory Pathways

Rare disease programs require early alignment between study design, data generation, and regulatory expectations. Integrated regulatory expertise supports orphan and expedited pathways, helping sponsors align evidence strategy early and navigate rare disease regulatory complexity with confidence.

Orphan Drug Designation (ODD)

Orphan pathway planning and application support aligned to your development strategy, including timing, evidence expectations, and downstream implications.

Accelerated Approval

Surrogate endpoint strategy and accelerated pathway navigation for rare disease therapies where traditional endpoints are not feasible.

Breakthrough Therapy

Application strategy and FDA interaction management for programs demonstrating substantial improvement over existing therapies.

Pediatric Study Plans

Pediatric regulatory strategy integrated into protocol and endpoint planning, with attention to feasibility, burden, and long-term follow-up expectations.

EMA Orphan Pathways

PRIMA designation and EMA orphan medical product applications supported by significant submission expertise across CTR and non-CTR pathways.

Precision is part of our team. They put in long days and hard work to help us create the final slide deck that allowed our study to move forward. We are so appreciative of how fast they worked.

— Senior Manager, Clinical Trials, Midsize Biotech
We have been delighted with the experience level and work product from the entire project team – they feel like an extension of our internal team.

— Director, Midsize Pharma
Our partnership with Precision is a true textbook definition of a great collaboration between a sponsor and a CRO.

— Senior Director, Midsize Biotech

Proven Results in Rare Disease Development

Read Case Study

Case Study - RARE DISEASE

Galactosemia Phase 3

Ultra-rare pediatric metabolic disorder registrational trial with global enrollment strategy and natural history data integration.

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Read Case Study

Case Study - RARE DISEASE

SCID Phase 1-2

Severe combined immunodeficiency gene therapy trial with integrated companion diagnostic development and specialized safety monitoring.

Read Case Study
Read Case Study

Case Study - RARE DISEASE

Rare Liver Disease RNAi Trial

RNAi trial in AATD overcame blinded data and COVID delays across 8 countries. Precision delivered two on-time interim analyses with phased updates.

Read Case Study

Frequently Asked Questions

What makes early-phase clinical development more complex in rare diseases?

Early-phase rare disease trials face small, geographically dispersed patient populations, limited natural history data, and higher protocol sensitivity. Decisions around endpoints, dosing, and patient selection must be right the first time, because opportunities to iterate are often limited.

These factors require specialized CRO capabilities built specifically for rare disease challenges.

How do you design a Phase I or first-in-human study when patient numbers are extremely small?

Study designs must maximize learning from every patient enrolled. Adaptive designs, strong translational rationale, and close alignment between clinical, biomarker, and safety data allow sponsors to extract meaningful insights even from very small cohorts.

How important is natural history data in early rare disease trials?

Natural history data often functions as a critical comparator in rare disease development. When placebo arms are not feasible, well-characterized natural history datasets can help contextualize outcomes, support endpoint selection, and inform regulatory discussions.

How do early regulatory interactions differ for rare disease programs?

Regulators expect early and proactive engagement for rare diseases, often with increased flexibility paired with higher scrutiny. Clear justification of endpoints, patient populations, and development strategy early on helps reduce downstream risk and supports accelerated pathways where appropriate.

How do biomarkers support decision-making in early rare disease development?

Biomarkers are often central to demonstrating biological activity in rare disease trials. Early integration of pharmacodynamic, target engagement, and exploratory biomarkers strengthens confidence in go or no-go decisions when traditional clinical endpoints may take longer to emerge.

How can early-phase planning improve the chances of accelerated approval or orphan designation?

Early-phase choices around endpoints, patient stratification, and data collection set the foundation for orphan, fast track, or accelerated approval strategies. Programs designed with regulatory end goals in mind are better positioned to move efficiently into pivotal development with fewer surprises.

Rare Disease Research & Insights

All Resources

Whitepaper
Beyond Geography: A Former Regulator’s Perspective on Multiregional Oncology Trials
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eBook
Breaking Through in Hematological Malignancies
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Case Study
Immune Monitoring in Pediatric Studies by Epiontis ID
Download Case Study