Mapping a Rare Disease Pathway
Recruiting through established networks.
The client was preparing for a new adult indication in X-linked hypophosphatemia (XLH), a rare inherited condition. It needed to understand how adult patients move through the UK health system: who sees them first, who diagnoses them, and who manages them long term.
Adult XLH care in the UK is spread across several specialties, so the recruit had to reach all of them. Physicians had to be UK-based and ideally have managed at least three adult XLH patients in the past 12 months.
An online bulletin board suited the audience. Each physician spent a total of 60 minutes across two or three visits, answering preloaded questions and follow-ups from a moderator at their convenience.
The final sample was 12 consultants: four endocrinologists, three rheumatologists, three metabolic bone disease specialists and two nephrologists. Eight worked in regional or specialist centers and four in district general hospitals. They averaged 14 years as consultants.
Patient volumes varied widely, from 2 to 50 adult XLH patients in the past year, with a median of eight.
That mix proved important. Physicians in specialist centers were generally more satisfied with diagnostic and management pathways than those in district hospitals, who reported less access to genetic testing and multidisciplinary teams. A sample drawn only from specialist centers would have missed that difference.
