Rare Disease Data: Why It Is Worth More to Research

Every figure in this guide comes from a published source, linked where it appears, most of them kept in CureCircle's evidence base with the source's own words. Read on 6 November 2026.

If you live with a rare disease, you already know the hard part: few doctors have seen it, diagnosis takes years, and the research that could help moves slowly because there are so few patients to learn from. That scarcity is also why your health data is worth more to research than almost anyone else's. This guide explains why, with the numbers behind it.

Rare one by one, common together

A rare disease is defined by how few people it affects. In the European Union, a condition is rare when it affects not more than five in 10,000 persons, the threshold set by the EU's orphan medicines regulation. In the United States, the Orphan Drug Act uses a count instead: a disease that affects less than 200,000 persons in the United States.

Each disease is rare, but there are thousands of them. An analysis of the Orphanet database found 6,172 unique rare diseases, 71.9% of them genetic and 69.9% exclusively of pediatric onset, and estimated that 3.5% to 5.9% of the population, 263 to 446 million people, live with a rare disease at any point in time. That is a conservative figure: it leaves out rare cancers and infectious diseases.

So "rare" does not mean "few people". It means few people per disease, scattered across countries, often children, and very hard for research to find.

Why research pays more for every patient it can find

The cost of medical research is, to a large degree, the cost of finding the right patients. A review of recruitment strategies in randomised trials found that the median cost of recruiting one patient was $409, ranging up to $6,990. For a disease that affects one person in 50,000, finding enough people to study is the whole problem.

That shows up in what trials cost per patient. A study of trial costs in the Orphanet Journal of Rare Diseases estimated a ratio of per-patient costs for orphan to non-orphan drugs of 2.5 to 1. Across 138 pivotal trials behind new US drug approvals, the median cost was $41,117 per patient, and the cheapest trial in the set, $2.1 million for a trial that enrolled 4 patients, was for a rare hereditary metabolic disorder: about half a million dollars for each patient.

When each patient is that hard to find and that expensive to study, information that patients share directly about their condition, their diagnosis and what they tried is valuable in a way it is not for a common disease, where records of millions of people already exist.

What that means for the value of your data

CureCircle values health data with a public benchmark built from what health data has sold for in the market, and rarity is one of its four factors (with the kind of data, how much of it, and how much is linked together). For a condition below the EU threshold, the benchmark applies a rarity premium taken from the published research cost ratios, using the low end of each source: about 2.9 times typical.

Here is what a complete story with a year of the records each condition's guideline lists comes to, per licence, on the benchmark today:

Each line on a condition page shows where its value comes from, down to the sources. The values differ within the rare group because the records each condition's guideline calls for differ: a condition diagnosed with a sleep study and repeated tests carries more kinds of data than one diagnosed mainly from symptoms.

Rarity raises what patients are paid directly, too. Market research for rare conditions pays patients well for an hour of their time: a listing of current studies shows $120 for a 60-minute interview with people living with Huntington's disease or their caregivers, and $120 for an hour with people with ATTR amyloidosis.

Parents and carers hold much of this data

With 69.9% of rare diseases starting in childhood, much of the story of a rare disease is held by parents: the first symptoms, the long road to a diagnosis, the treatments tried, often written down in notes, emails or a diary kept at the time. That account is research data in its own right.

On CureCircle, you can share a story about someone you care for: your child, your partner or a parent. The interview asks about them, a carer-told story is marked as such for researchers, and a diary or journal you kept can be uploaded and read into the record, entry by entry. You share it as their parent or guardian, or with their permission.

What to share, if you choose to

For a rare condition, the parts research values most are the ones only patients and families hold:

• The path to diagnosis: the first symptoms, how long it took, which tests and which wrong diagnoses came first.
• Every treatment tried, including what did not work, rated by the person who tried it.
• The records behind it: genetic test results, specialist letters, scan reports and lab results over time.

If you do not have your records, you can ask your clinic for a copy: in the EU and the UK, it has to answer within one month, free of charge.

Your data is worth more because it is rare, and it can do more for the same reason: every story fills a gap that research cannot fill any other way. If you want to see the figures for your condition, find it in the list, or start your story.