Children and adults travel from as far as Australia, Africa and Mongolia to see her, because she is one of the few dermatologists in the world who specializes in the rare and perplexing genetic disorder that causes their skin to be disfigured by redness and dark scales across their entire bodies, ichthyosis. And now, Dr. Amy Paller, who has spent 30 years researching ichthyosis, has found the cause of red skin and has a promising biologic drug to begin testing soon in clinical trials.

In a new study published in the Journal of Allergy and Clinical Immunology, Dr. Paller, the Northwestern Medicine chair of dermatology, Northwestern Medicine, together with Dr. Emma Guttman-Yassky of Mount Sinai Medical School, discovered that an arm of the immune system – the Th17 pathway – in these patients is way too active, and the higher its activity, the worse the disease severity. Dr. Paller has just launched a clinical trial to test a new biologic (a cutting-edge drug), with the goal of targeting and calming down this pathway.

In ichthyosis, the skin barrier is abnormal, so the skin is inflamed, dry and scaly. “These patients can be tremendously disfigured by this skin disorder,” said Paller, also an attending physician at the Ann & Robert H. Lurie Children’s Hospital of Chicago. “It can be painful, itchy and easily gets infected. They may have trouble using their hands and walking.”

Patients also have trouble sweating, so it’s hard for kids and adults to participate in sports. The drug Dr. Paller will test, secukinumab, has already been highly effective in psoriasis, a more common skin disorder with an increase in this Th17 pathway, leading to inflammation and scaling. And with Dr. Paller’s new discovery, she thinks the drug could be even more helpful in ichthyosis because the overactive immune pathway was actually more strongly correlated with ichthyosis than with psoriasis.

The research was supported by the Foglia Family Foundation Endowment and the National Psoriasis Foundation.

REF: September 19, 2016 | by Marla Paul, NorthWestern University.

From the Desk of Dr. Amy Paller...

“This research shows the power of taking research for common skin problems, such as eczema and psoriasis, and expanding it to rare skin problems, like ichthyosis. Because of my long-term commitment to the ichthyosis community, I was able to engage Dr. Guttman-Yassky, a scientist collaborator on eczema research in children, to team up with me and look at what may be driving the redness of ichthyosis. These studies identified that all evaluated ichthyosis subtypes (lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), epidermolytic ichthyosis (EI) and Netherton syndrome) were tightly linked to increases in the same arm of the immune system that is activated in psoriasis, a common skin issue characterized by skin redness and scaling.

FIRST members have been instrumental in our research, starting with the national conference in  Indianapolis (including for this recent paper) and through volunteering at the San Diego conference, which will support future research. We are so grateful to our patient partners. We are particularly eager to move forward with a trial to test whether a new, commercially available psoriasis medication, which specifically targets the arm of the immune system that is overactive in ichthyosis, will reduce redness and scaling. While the initial trial is only open to adults 18 years and older, we will push for an extension to children if results are favorable. We encourage any FIRST members who are interested in participating in our year-long trial (to be held in Chicago and New York City) to contact us by email at thy.huynh@northwestern.edu or apaller@northwestern.edu or by phone at 312.227.6486 for more information."

Share This Page:

Search