About Xeroderma Pigmentosum
Xeroderma pigmentosum is a rare autosomal recessive disorder of DNA repair caused by defects in nucleotide excision repair (NER) pathway genes (XPA through XPG) or the translesion synthesis polymerase POLH (XP variant). Patients are exquisitely sensitive to ultraviolet radiation and develop severe, early-onset sunburn reactions, progressive photodamage of the skin and eyes, and a dramatically elevated risk of cutaneous malignancies — estimated to be more than 10,000-fold above the general population before age 20. Neurological degeneration occurs in a subset of complementation groups, most prominently XPA and XPD, constituting the DeSanctis-Cacchione syndrome variant.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Xeroderma Pigmentosum trials.
Genetic complementation group (XPA–XPG or XP-V) is frequently an eligibility criterion — confirm the specific subtype through functional NER assay or sequencing before applying to trials.
Prior or concurrent skin malignancies are common in this population; trials vary widely on whether active or historical cancers are exclusionary — review oncology history documentation carefully.
Many trials restrict enrolment to patients without prior systemic chemotherapy for skin cancers; document all past treatments with dates and agents to expedite eligibility review.
Patient Resources
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