Field Notes & Analysis

Insights from the
Rare Disease Frontier

Perspectives on orphan drug commercialisation, market access strategy, and the evolving science of rare disease diagnosis — written from 22+ years in the field.

All Articles
IV infusion line connected to a DNA double helix, symbolising one-time in vivo gene editing
Gene Editing Commercial Strategy
Tom Meuleman 8 min read

One-Shot Therapy Is Here: What Rare Disease Commercial Teams Must Rebuild First

Intellia's Phase 3 HAE data show one CRISPR infusion can replace chronic prophylaxis. When a single infusion replaces a lifetime of treatment, the chronic orphan-drug commercial model stops working. Here's what to rebuild first.

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Abstract illustration of a glowing teal neuron surrounded by gold gene therapy vector particles on a dark blue background
Gene Therapy Market Access
Tom Meuleman 8 min read

The First Sanfilippo Gene Therapy Is Approved. Europe's Launch Work Starts Now

The FDA has approved rebisufligene etisparvovec, the first gene therapy for Sanfilippo syndrome type A. Why eligibility is a race against time, and what European launch teams should start before any EU decision.

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Abstract teal compass rose surrounded by rings of gold nodes on a dark blue background
Market Entry Gene Therapy
Tom Meuleman 8 min read

Which Markets First? Rare Disease and Gene Therapy Market Entry in Europe and Beyond

Which markets should an orphan drug or gene therapy enter first, and should you go alone or partner? Three market archetypes, entry models, and a practitioner view on Benelux and Switzerland.

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Abstract illustration of a medicine vial surrounded by four teal and gold shields on a dark blue background
Early Access Orphan Drug Launch
Tom Meuleman 8 min read

Early Access Programs in Rare Disease: Four Risks to Manage Before You Open the Door

An early access program can help patients and build an orphan launch, or damage both. Four risks to manage first in Europe, Switzerland and Benelux: adverse events, supply, national rules and commercial impact.

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Abstract illustration of a teal neural network shaped like a brain inside gold and teal protective rings on a dark blue background
Clinical AI Regulation
Tom Meuleman 8 min read

Clinical AI in Europe: One Product, Two Laws (MDR and the AI Act)

Clinical AI that helps diagnose, finds patients or scores treatment is often both a medical device and a high-risk AI system. What the MDR and the EU AI Act mean for hospitals and medtech vendors through 2028.

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Abstract illustration of a gold and teal network of connected nodes around a bright central point on a dark blue background
Orphan Drug Launch Commercial Strategy
Tom Meuleman 7 min read

Launching a Rare Disease Drug in Europe: Why the Standard Playbook Fails and What Works Instead

Why big-pharma launch templates break on orphan products, and the four pillars that make a rare disease launch in Europe and Benelux work: community, patient finding, access and support.

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Graphical summary from Mecca et al. (Brain, 2026): SMN deficit alters myogenic progenitor fate during postnatal growth in SMA mice; in adult Pax7CreERT2 models, muscle stem cell reservoir depletion leads to NMJ remodelling at 2 weeks and non-cell-autonomous motor neuron loss at 6 months.
Neuromuscular Commercial Strategy
Tom Meuleman 8 min read

Not Only a Motor Neuron Disease: What Muscle Stem Cells Mean for SMA's Next Chapter

A new study in Brain shows that losing muscle stem cells can lead to motor neuron loss in SMA mice. Why the neuron-only story is incomplete, and what it means for durability, combinations and long-term evidence plans.

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Infographic: AI-driven medicine, from human monitoring to AI analysis, simulation of side effects and accelerating science cycles
AI & Diagnosis Commercial Strategy
Tom Meuleman 8 min read

AI Doesn't Get Tired: What AI-Driven Medicine Means for Rare Disease Care

If AI can help find a rare disease patient, what else changes when it sits next to the clinician, the safety team and the market access lead? From continuous monitoring to simulated side effects, and why the commercial playbook is now the slowest part of the system.

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Patient in a hospital waiting room while a DeepRare AI screen analyses rare disease diagnostics
AI & Diagnosis Market Access
Tom Meuleman 12 min read

From Paper to Diagnosis in 2 Hours: Why DeepRare Changes the Rare Disease Game

When a Nature-published AI system identifies a child's causative genetic mutation in under 60 seconds, it doesn't just change diagnostics — it rewrites the commercial playbook for every orphan drug company in Europe.

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