The Yale School of Medicine will co-lead a national research consortium aimed at studying epidermal differentiation disorders, a category of rare inherited skin diseases previously referred to as ichthyoses and palmoplantar keratodermas. The Consortium for Hereditary Epidermal Differentiation Disorders (CHEDD), established in partnership with Northwestern University Feinberg School of Medicine, has received a $5 million, five-year grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases, part of the National Institutes of Health (NIH).
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Keith A. Choate, MD, PhD, who is the chair of dermatology and associate dean for physician-scientist development at Yale, and Amy S. Paller, MD, chair of dermatology at Northwestern, will lead the consortium. CHEDD incorporates seven clinical sites and patient advocacy organizations, collaborating through the NIH Rare Diseases Clinical Research Network (RDCRN) to study these conditions comprehensively.
Choate remarked that families impacted by these disorders often lack answers regarding their progression and treatment options. Through the integration of genetic diagnosis and long-term patient follow-up, CHEDD aims to facilitate a deeper understanding of these diseases and align patients with appropriate therapies.
The RDCRN backs clinical research across various consortia focused on over 280 rare diseases worldwide. Its partnership model engages investigators, patients, advocacy groups, and the NIH in collaborative research efforts. The Foundation for Ichthyosis & Related Skin Types and the Pachyonychia Congenita Project are key advocacy group partners in this endeavor, involved in shaping research focus and connecting patients to studies.
Chris Boynton, CEO of the Foundation for Ichthyosis & Related Skin Types, expressed gratitude for the collaboration and funding, which he believes will empower communities affected by these skin disorders.
Epidermal differentiation disorders have been classified as genetic conditions stemming from mutations in genes responsible for skin proteins and metabolic processes essential for skin barrier health. Common symptoms include skin thickening, scaling, and redness.
Janice Schwartz, CEO of the Pachyonychia Congenita Project, highlighted the consortium's potential to enhance treatment options by fostering collaboration among researchers, clinicians, and patient organizations.
CHEDD is divided into three main research projects:
1. Establishing a longitudinal registry and natural history study that combines genetic diagnosis with clinical assessments to track the progression of each disorder subtype.
2. Conducting a clinical trial for erlotinib, a targeted therapy that aims to block an overactive growth-signaling pathway in the skin (ClinicalTrials.gov NCT06545695).
3. Mapping the molecular alterations associated with each disorder to discover biomarkers indicative of disease activity and treatment response.
In addition to the research projects, the consortium will include an administrative core and plans to fund new studies. The data and biospecimens gathered through CHEDD will be made available to the broader research community via the RDCRN and NIH data repositories. Choate is also set to serve as associate director of the administrative core and will lead the biomarker analysis in Project 3, collaborating with co-investigator Mark Gerstein, PhD, from Yale, and statistician Hongyu Zhao, PhD.
Paller asserted that those with epidermal differentiation disorders deserve high-quality care akin to that given for more prevalent conditions. She emphasized that this consortium creates the framework needed for effective natural-history studies and clinical trials, involving the patient community from the outset.
Other clinical sites in the consortium include Stanford University, the University of California San Diego and Rady Children’s Hospital, the University of Colorado, the Medical University of South Carolina, and the University of Texas at Austin and Dell Children’s Medical Center.