End-to-End Support
for Rare and
Orphan Diseases

Rare disease clinical research is complicated. Running studies on small patient populations that are distributed across a wide geographic area raises regulatory hurdles, coordination challenges, and cultural barriers many other trials don’t face. At Precision, we understand precisely what it takes to run a rare disease trial because we’ve had a team whose strong focus for the past 25 years has been to execute these types of studies. Our experience conducting 150+ orphan disease projects covering 80+ rare diseases gives us the ability to anticipate and address logistical and regulatory obstacles, while our scientific acumen generates bold and innovative solutions to rare disease technical challenges. That’s rarefied thinking, and it’s what makes us a one-of-a-kind rare disease CRO that can drive your clinical development success.

Our rarefied approach to rare and orphan disease trials

A uniquely patient-centric methodology

When your study is focused on a small, highly targeted population, every patient is critical. We use our deep understanding of the patient and family mindset to address each individual need and concern-reducing the burden on the patient-so patients stay in your trial and follow your protocols.

The regulatory skill to expedite your orphan drug designation

It takes a deep knowledge of the precise proof points regulators require-and how to establish clinical verification of those parameters-to streamline the ODD process. Our track record of 100% data acceptance across all orphan projects speaks for itself.

A pioneering technique that addresses the complex challenges of rare disease clinical trials

By working with patient advocacy groups and key opinion leaders, we

  • Ensure that trial protocols are realistic given any limitations of the target patient population
  • Use advanced biostatistical approaches to address the realities of rare diseases
  • Define prevalence at country and site levels
  • Apply our specialized knowledge to identify, recruit, screen, and monitor patients across a wide geography.

Maybe that’s why we’ve won the ROAR Awards “Best Orphan Drug CRO” for 2 consecutive years.

Deep knowledge of biostatistics for rare and orphan disease research

With far smaller population sizes, rare disease clinical trials produce limited evidence relative to traditional clinical trials, affecting both trial design and statistical approaches. Superlative biostatistical approaches and analytic expertise enables us to support your protocol review and study design, sample size determination, endpoint selection, randomization schedules, outcomes measures and other critical study aspects-serving as your biostatistical analysis partner.

Unparalleled education of healthcare providers, patients, and caregivers to get the right medicine to the right person

We efficiently build awareness and understanding of your rare disease among the full spectrum of interested parties, supporting short-term patient recruitment and developing long-term product demand.

Advancing preclinical through Phase III studies with expertise grounded in deep science

Our unparalleled rare and orphan disease experience spans 80+ indications covering all phases of clinical development. We pair this experience with in-house biomarker and specialty lab services that refine trial targets and speed results, as well as sophisticated expertise in adaptive clinical trials, basket studies, and early phase rare disease trials. Because every rare disease trial is unique, we deliver a customized approach from trial design to commercialization.

  • α1‑Antitrypsin deficiency (A1ATD)
  • Light Chain Amyloidosis
  • Alport Syndrome
  • Amyotrophic lateral sclerosis
  • Calciphylaxis; Uremic Calciphylaxis
  • Cushing Syndrome
  • Cystic Fibrosis
  • Dravet Syndrome
  • Duchenne Muscular Dystrophy
  • Eisenmenger Syndrome
  • Eosinophilic Esophagitis
  • Fabry Disease
  • Fatty Acid Oxidation Disorder
  • Friedreich’s Ataxia
  • Gaucher Disease
  • Growth Hormone Deficiency
  • Hereditary Inclusion Body Myopathy
  • Hereditary angioedema (HAE)
  • Idiopathic Pulmonary Fibrosis (IPF)
  • Macular Degeneration
  • Mitochondrial Diseases
  • Multiple Myeloma
  • Multiple Sclerosis
  • Netherton Syndrome
  • Niemann-Pick Type C1 Disease
  • Paroxysmal Nocturnal Hemoglobinuria (PNH)
  • Phenylketonuria (PKU)
  • Polycythemia Vera
  • Prader-Willi Syndrome
  • Primary lymphedema
  • Primary Biliary Cirrhosis, Primary Sclerosing Cholangitis
  • Primary Hyperoxaluria
  • Pulmonary Arterial Hypertension (PAH)
  • Raynaud Phenomenon; Systemic Sclerosis
  • Retinal Vein Occlusion; Uveitis
  • Stargardt Disease
  • Valley Fever
  • Wilson’s Disease
  • X-Linked Myotubular Myopathy
  • IL-18 driven autoinflammatory conditions

See all of our Clinical Trial Services >

See all of our Specialty Lab Services >

Our biomarker capabilities enable a wide range of biomarker assays

We specialize in developing workflows that maximize what you can learn from each sample, including:

  • Flow cytometry for immune monitoring, receptor occupancy measurements, phospho flow cytometry, and other applications
  • Other immune monitoring approaches like our proprietary Epiontis ID platform
  • Genomics approaches for gene expression profiling, SNP detection, copy number variation detection, and more

Learn more about our Specialty Lab capabilities >

Case Study: Biostatistical analysis leads the FDA to change an orphan drug ruling

In rare inherited metabolic disorders, predefining the best endpoint to demonstrate efficacy of a new treatment can be challenging. We worked with one sponsor who was developing such a treatment. When results from the placebo-controlled clinical trial proved unimpressive, the contract research organization (CRO) that conducted the trial, satisfied it had followed the established statistical analysis plan, concluded there was nothing further to be done.

The sponsor then turned to Precision to see what could be salvaged from the data. We recognized immediately that the study’s established primary endpoint simply was not
the best metric by which to judge success. Our task was to secure FDA approval for the drug based on the new proposed efficacy endpoint.

Find out how Precision convinced the FDA to consider a different efficacy endpoint for approval by reading the full case study.

Discover how our rare and orphan disease expertise can advance your clinical development program

Discover how our rare and orphan disease expertise can advance your clinical development program

Services supporting rare & orphan disease clinical development

Clinical Trial Design

Advanced trial-design approaches-including basket, umbrella, and adaptive trials-deliver biomarker driven clinical research. Deep experience in these highly complex trial designs maximizes both insights and efficiency.


Seasoned biostatisticians and statistical programmers deliver insight into every trial phase, from study design to regulatory submissions, all backed by meticulous documentation and data monitoring.


Find and monitor gene expression signatures, copy number variations, chromosome rearrangements, and other genomic events occurring in patient samples using NGS, NanoString, qPCR, ddPCR, and FISH/ISH.

Explore Other Areas of Expertise