Autopsy findings and clinical features of a mild-type xeroderma pigmentosum complementation group A siblings: 40 years of follow-up

Tomita, Masaki; Tsujimoto, Mariko; Kitazawa, Riko; Nakano, Eiji; Funasaka, Yoko; Ichihashi, Masamitsu; Kitazawa, Sohei; Kakita, Akiyoshi; Kanda, Fumio; Nishigori, Chikako

doi:10.1016/j.jdcr.2018.04.017

Cited by 1 publication

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“…Patients with XP may develop skin cancer in childhood and adolescence, if not protected from the sun. [7][8][9] Progressive central and peripheral neurological symptoms occur in almost all Japanese patients with XP-A, about 10% of patients with XP-D and some patients with XP-F and XP-G. The rate of neurological symptoms varies with age; however, they appear in almost all patients with XP-A in their mid-teens.…”

Section: Strengths and Limitations Of This Studymentioning

confidence: 99%

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Clinical trial on the efficacy and safety of NPC-15 for patients with xeroderma pigmentosum exaggerated sunburn reaction type: XP-1 study protocol for a multicentre, double-blinded, placebo-controlled, two-group crossover study followed by a long-term open study in Japan

et al. 2023

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IntroductionXeroderma pigmentosum (XP) is a rare intractable disease without a fundamental treatment, presenting with severe photosensitivity, freckle-like pigmented and depigmented maculae and numerous skin cancers before the age of 10 years without strict sun protection. About 70% of the patients exhibit extremely severe sunburn reactions and most of them develop neurological symptoms, including sensorineural hearing impairment and progressive peripheral and central nervous disorders beginning from childhood ages. In the preclinical study, we found that N-acetyl-5-methoxytryptamine was effective in suppressing skin tumour development in addition to improvement of auditory brainstem response in chronically ultraviolet-irradiated XP-A model mice.Methods and analysisOn the bases of the preclinical study, we conduct a clinical trial on the efficacy of NPC-15 for patients with XP with exaggerated sunburn reaction type by a multicentre, double-blinded placebo-controlled, two-group crossover study followed by a 52 weeks open study.Ethics and disseminationEthics approval is overseen by the Kobe University Institutional Review Board and Osaka Medical and Pharmaceutical University Institutional Review Board, and the study is conducted in accordance with the approved protocol. All participants will be required to provide written informed consent. Findings will be disseminated through scientific and professional conferences and peer-reviewed journal publications. The data sets generated during the study will be available from the corresponding author on reasonable request.Trial registration numberjRCTs051210181.

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Section: Strengths and Limitations Of This Studymentioning

confidence: 99%

“…Breathing problems due to laryngeal dystonia, dysphagia and aspiration occur frequently and sensorineural hearing impairment and dysarthria cause severe communication challenges in the late teens. Patients with XP may develop skin cancer in childhood and adolescence, if not protected from the sun 7–9…”

Section: Introductionmentioning

confidence: 99%