Consultancy
Rare Disease Consultancy
Strategic guidance for rare and ultra-rare disease drug development
Overview
CortexBio provides specialised consulting for organisations developing therapies for rare and ultra-rare diseases, offering strategic guidance across the full development journey. The approach combines scientific expertise with practical experience of the regulatory, clinical and commercial considerations that make rare disease development different from mainstream drug development.
What we do
- Rare disease strategy — approaches that address the scientific, clinical, regulatory and commercial considerations unique to rare diseases.
- Orphan drug designation — navigating the pathways and preparing applications across multiple jurisdictions.
- Natural history study design — robust studies that characterise disease progression and inform clinical development.
- Registry strategy — disease registries that generate long-term, decision-useful insight.
Where this creates value
- Development strategy shaped around what regulators and payers actually need to see, reducing avoidable rework later.
- Regulatory pathway design informed by direct experience of successful orphan drug designation applications.
- Patient identification and trial recruitment approaches built for small, dispersed populations.
- A value proposition for the therapy that holds up under scrutiny from regulators, payers and investors alike.
Why CortexBio
CortexBio's integrated view of rare disease and ageing biology brings a wider lens to disease mechanism and therapeutic strategy than a single-disease specialist typically offers. Dima Martini-Drew, MD, has directed the launch of four enzyme replacement therapy programmes across Genzyme, Astellas and Abbott, and is a founding industry member of the Critical Path Institute's rare and orphan disease programmes — 30 years of practical experience in what makes a rare disease development pathway succeed.
Who this is for
Typically an early- to mid-stage biotech or pharma team with a promising rare disease asset and a development pathway still to be defined, an investor group assessing a rare disease opportunity, or a larger organisation opening a new rare disease programme without in-house orphan drug or natural history study experience. The common thread is a need for strategic judgement grounded in direct experience of what has and has not worked in comparable programmes, rather than generic development consulting applied to a rare disease context it was not built for.
Frequently asked questions
What does a rare disease consultancy do?
A rare disease consultancy provides strategic guidance to pharmaceutical and biotech companies developing treatments for rare and ultra-rare conditions. Services typically include drug development strategy, regulatory pathway design (including orphan drug designation support), natural history study design, patient advocacy engagement, and Target Product Profile development. CortexBio specialises in rare genetic and metabolic diseases, drawing on 30 years of experience across companies including Astellas, Abbott and Genzyme.
What is orphan drug designation and how can CortexBio help?
Orphan drug designation is a regulatory status granted by the EMA and FDA to medicines targeting rare conditions, providing benefits including market exclusivity, fee reductions and protocol assistance. CortexBio supports companies in building the clinical and scientific evidence needed to qualify, advising on documentation, patient population definitions and regulatory strategy.
How does CortexBio approach rare disease drug development differently?
The approach is grounded in the metabolic biology shared between rare genetic disorders and broader disease categories including ageing-related conditions. This cross-disciplinary perspective — developed across four enzyme replacement therapy programmes — surfaces development pathways and patient population insights that a narrower specialist might miss.
Who does CortexBio work with?
Pharmaceutical companies, biotech companies and investor groups focused on rare disease drug development — typically early- to mid-stage teams working in rare genetic metabolic disorders, lysosomal storage diseases, mitochondrial disease and rare neurological conditions.
What experience does Dima Martini-Drew MD have in rare disease?
Over 30 years of rare disease experience across Astellas, Abbott and Genzyme Corporation, directing the launch of four enzyme replacement therapy programmes. A founding industry member of the Critical Path Institute's Rare and Orphan Disease programmes, and recognised as a Biotech Trailblazer by Global Healthcare Magazine in 2025.
How an engagement works
Most engagements start with a scoping conversation — understanding the asset, the stage of development, and where the programme currently sits against orphan drug designation, natural history evidence, and registry planning. From there CortexBio provides a written assessment of the gaps that matter most, in priority order, rather than a generic checklist. Where the engagement extends into ongoing strategic support, work is scoped around specific deliverables — a designation application, a natural history study protocol, a registry design — so progress is visible and the relationship stays accountable to outcomes rather than hours.
The same integrated view of rare disease and ageing biology that shapes CortexBio's longevity work also informs rare disease strategy: shared mechanisms across disease areas often point to development pathways, patient population insights or biomarker opportunities that a narrower, single-disease consultancy would not surface.