Rare-disease coordination

Rare-disease coordination is the most distinctive part of our book. The therapy is almost always an FDA-approved orphan product, the cohort of treating physicians worldwide is small, and the patient — usually a child or young adult — has often been in a long diagnostic and therapeutic journey before the referral reaches us. The operational priority is speed and accuracy; the clinical posture is deep deference to the specialist plan.

Ultra-rare orphan approvals we commonly coordinate

• Metabolic and lysosomal — enzyme replacements and substrate reducers for Niemann-Pick, Fabry, MPS, Pompe, and related conditions.
• Neurodevelopmental — for example Komzifti for Rett syndrome; genotype-matched therapies for Duchenne muscular dystrophy.
• Rare bleeding disorders — recombinant coagulation factors, including the only recombinant von Willebrand factor (Vonvendi).
• Primary immunodeficiency and HAE — kallikrein inhibitors (Ekterly, Kalbitor) and complement inhibitors.
• Rare neuromuscular — carbonic anhydrase inhibitors for primary periodic paralysis (Keveyis), antisense oligonucleotides for SOD1-ALS, exon-skipping therapies for DMD.
• Rare gynaecologic oncology — for example Avmapki Fakzynja for KRAS-mutant low-grade serous ovarian cancer.
• Rare liver disease — PBC (Iqirvo), MASH (Rezdiffra), and related hepatology orphans.

Why rare-disease coordination is operationally unusual

Three features of rare-disease orders change the operational profile. First, the therapy is often the only option — there is no generic, no local alternative, and no meaningful substitution. Second, the treating-physician network is small and often publicly documented, so the coordination has to be precisely and visibly respectful of that relationship. Third, the stakes are high and the timelines are compressed; a delay of weeks can compound into a meaningful clinical setback. We run accordingly.

What we ask from the treating physician

A signed named-patient letter that establishes the diagnosis, the rationale for the specific US therapy, the dose and duration, and the intended monitoring plan. For paediatric rare diseases, we additionally ask for confirmation that the caregiver has had the conversation about administration, storage, and expected course. For agents with boxed warnings or REMS considerations, we coordinate with the dispensing partner to ensure the relevant acknowledgements are recorded before release.

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