Rare Disease
CRO Services

Rare disease studies are high-stakes and high-complexity environments

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. Researching the depths of rare diseases often requires breaking new ground and pioneering clinical research in diseases yet to be investigated. Addressing the unique challenges of rare studies requires an agile and creative CRO capable of “Rarefied Thinking.”

Explore Precision’s specialized clinical development and commercialization capabilities for rare diseases:


Specialty Labs

Clinical Operations



Data Mgmt.

Reg. Affairs


Biomarker DM


Manu- facturing

A rare disease CRO making a difference for more than a decade

Charting new territories in ultra-rare indications, pioneering orphan disease research, and understating populations via natural history studies—our experience spans more than 190 projects across 90+ rare indications.

  • 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

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.

Alport Syndrome

Services Provided:

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

Patient Population:
Child to Adult

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

Inherited Metabolic Disorder

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

Specialty assays and laboratory solutions for rare research

Precision scientists know how to build creative solutions that holistically support the entirety of a rare disease clinical development project. Their support, together with our proprietary technologies, can help you overcome complex developmental and clinical study challenges:

  • Epiontis ID for immune cell phenotyping
  • ApoStream for isolating circulating tumor cells (CTCs)
  • QuartzBio for integrating, analyzing and generating insight from diverse clinical and biomarker data

Work directly with the innovators who developed these technologies to find the right approach for your unique study requirements and endpoints.

Advancing Cell and Gene Therapies for Rare Diseases

Partner with the leader in development, manufacturing, and commercialization for cell and gene therapies.

Precision Convergence, the combined power of trials, labs and data sciences to drive faster clinical development

What set us apart is the way we integrate clinical trial execution with deep scientific knowledge, laboratory expertise, and advanced data sciences. This is Precision Convergence: maximizing insights into patient biology and accelerating the pace of scientific discovery and approval.