A campaign backed by Kyowa Kirin, Amgen and Sanofi is calling on prominent organizations with medical websites to bring their resources on women and girls with X-linked conditions up to date.
The nonprofit Remember The Girls, supported by sponsorship from the three drugmakers, is running the “Rare Rewritten” advocacy campaign to advance its goal of getting online information updated. According to the nonprofit, websites such as OMIM and the National Institutes of Health’s MedlinePlus have yet to accurately incorporate recent research, leaving women’s symptoms under-acknowledged, under-researched and undertreated.
Remember The Girls noted in Tuesday’s campaign kickoff announcement that women with X-linked conditions—genetic disorders caused by mutations in genes on the X chromosome, including Duchenne muscular dystrophy (DMD), Fabry disease and hemophilia—are often referred to on medical websites as unaffected “carriers.” Yet, research has “conclusively shown” that women can and often do develop symptoms, according to the nonprofit.
Tuesday, Remember The Girls sent letters to OMIM, MedlinePlus, the Children’s Hospital of Pennsylvania, a genomics program in England and the National Cancer Institute to encourage the groups to update their websites. The sites already state that women with conditions such as Fabry disease can have symptoms, but the nonprofit has identified text it believes misrepresents the current evidence.
Remember The Girls highlighted, for example, a MedlinePlus page that says “a variant would have to occur in both copies of the gene to cause” an X-linked recessive disorder in women. The nonprofit also picked out an NHS England website that says “females—who have a second non-pathogenic copy of the gene—are generally unaffected (or only mildly affected)” as another example of text it wants to see changed.
The nonprofit is pushing for the organizations to stop using the terms “dominant” and “recessive” to describe X-linked conditions, to avoid the term “carrier” and to explain that the likelihood of symptoms varies from condition to condition and from woman to woman.
OMIM already says on its site that “carrier” shouldn’t be used to describe Fabry patients, but another page does use “carrier” in the context of DMD.
Kyowa, Amgen and Sanofi all market treatments for X-linked conditions: Sanofi makes Fabrazyme for the treatment of Fabry disease, Kyowa markets Crysvita for use in people with X-linked hypophosphatemia and Amgen sells Actimmune to treat chronic granulomatous disease.