A new review found that rare disease studies typically record only a patient’s age and sex, omitting the broader personal and social details that help explain why two people with the same condition can have very different experiences with diagnosis, care and daily life.
The review, published in Genetics in Medicine, examined how research on rare diseases such as transthyretin amyloid cardiomyopathy (ATTR-CM) describes the people who take part in it, measuring each study against a widely used checklist called PROGRESS-Plus.
The checklist sets out the social and personal characteristics that influence a person’s health and their access to care, such as income, education, where someone lives, language and disability. When this information is missing, the authors found, it becomes hard to tell who is represented in research and who may be left out.
The pattern was consistent across the 37 studies reviewed. Age and sex appeared in nearly all of them, but race was reported in only seven, income in seven, primary language in four, and a direct measure of disability or daily functioning in just one. The gap was visible even before those studies were counted: of a larger group screened for the review, roughly a quarter reported no demographic information at all.
The authors emphasize that these omissions carry real consequences. Demographic gaps, they write, can “erase the social context that shapes who receives a diagnosis, who is lost to follow-up, and who benefits from clinical innovation.”
In practice, a person facing financial strain, a language barrier or a long drive to the nearest specialist may move through the system very differently from someone without those pressures, even with an identical diagnosis. When studies don’t capture this, those differences stay invisible.
Moreover, when this context is missing, efforts to improve access may end up helping those who already have the most advantages, widening the gap rather than closing it.
The effects reach beyond patients themselves. The researchers reflected on research showing real strain on families and caregivers, including reduced quality of life, distress among siblings, and economic hardship, burdens central to how families sustain care over time.
The authors noted that consistent, standardized questions drawn from existing frameworks could make rare disease research more inclusive and its findings fairer, helping ensure that the experiences and needs of all families are reflected in the evidence.
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