LANSDALE, PA — Nine in 10 people affected by ichthyosis and related skin disorders report emotional or psychological effects from their condition, underscoring the broader burden of diseases that currently have no approved treatments, according to a new patient survey released by the Foundation for Ichthyosis & Related Skin Types.
The survey, the first large-scale effort by the nonprofit to document the experiences of patients and caregivers, found that the impact of ichthyosis extends beyond physical symptoms to social relationships, access to care and financial strain.
Ichthyosis refers to a group of rare genetic skin disorders that cause dry, cracked and scaling skin. The organization estimates that at least 300 babies are born each year with moderate to severe forms of the disease.
Eight in 10 respondents said the condition affects their social lives, while about 70% described their daily treatment regimen as burdensome or difficult to maintain.
Three-quarters of respondents said they spend at least 30 minutes each day managing the condition, including one-quarter who devote one to two hours daily to treatment routines.
The financial burden was also significant. Nearly three-quarters of respondents spend more than $50 a month on supplies related to their care, and roughly one in five spend at least $200 monthly.
The survey highlighted persistent barriers to care, with more than half of respondents reporting delays in receiving a correct diagnosis and two-thirds saying they struggled to find physicians knowledgeable about ichthyosis.
“There is increasingly clear evidence that we need to understand the inflammatory, genetic, molecular, and biological drivers of these conditions if we are going to develop more effective therapies,” said Christopher Bunick, a member of FIRST’s board and medical advisory panel.
Research and treatment development emerged as a central concern. Eighty-five percent of respondents identified new therapies as a priority, and six in 10 said they wanted more information about clinical trials and research advances.
The findings come as there are no therapies specifically approved by the United States Food and Drug Administration for the treatment of ichthyosis.
In response to the survey, the Foundation for Ichthyosis & Related Skin Types, known as FIRST, said it has launched a Peer Support Navigator Program to connect patients and families with trained volunteers who have experience living with the condition.
The organization has also developed a strategic research plan focused on accelerating scientific research, improving collaboration among researchers and patients, and increasing awareness of clinical trials and treatment options.
“The findings confirm that ichthyosis affects far more than the skin,” said Chris Boynton. “The survey gives us a clear mandate from the community to develop more support resources and accelerate research to find better treatment options for people and families affected by ichthyosis.”
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