RecruitingNCT05484570
Dermatological
Xeroderma Pigmentosum
Also known as XP, nucleotide excision repair deficiency, DeSanctis-Cacchione syndrome
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 exquisi
ORPHA:910 ↗Gene XPA-XPGGene POLHPrevalence 1 in 250,000 (USA/Europe); 1 in 22,000 (Japan)Onset ChildhoodAutosomal recessive
2
studies recruiting now
as of 7 Sept 2026
16
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
2 Aug 2022
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1 / Phase 2NCT05071222
Safety and Efficacy Study of Transplantation of Autologous CD34+ Cells Transduced With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA in Artemis (DCLRE1C) Deficient Severe Combined Immunodeficiency Patients (ARTEGENE)
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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
Severe sunburn after minimal UV exposure, often evident in infancyProgressive freckling, lentigines, and mottled hypo- and hyperpigmentation on sun-exposed skinEarly-onset multiple skin cancers including squamous cell carcinoma, basal cell carcinoma, and melanomaPhotophobia, conjunctivitis, and corneal opacification from UV-induced ocular damagePterygium formation and eyelid skin cancers causing visual impairmentProgressive sensorineural hearing loss and neurological degeneration in XPA and XPD subtypesAtrophy and telangiectasia of sun-exposed skin giving a prematurely aged appearance
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Afamelanotide (Scenesse)
Before you apply
Things trial teams commonly ask about for Xeroderma Pigmentosum. Not eligibility rules; those are set by each study.
- 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.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).