Rare & Orphan Lab · DeCure for X

DeCure for Xeroderma pigmentosum group A

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for xeroderma pigmentosum group A — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module2 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0110843$DeCureRare

The disease map

Disease moduleXeroderma pigmentosum group A maps to a 2-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.

Research record

01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash

Current lead

No approved-drug candidate for xeroderma pigmentosum group a is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.

Molecular view

XPC complex subunit, DNA damage recognition and repair factor (XPC)XPC is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.

Loading structure…
helix sheet sf4drag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 28JM · 3.29 Å · ligand IRON/SULFUR CLUSTER (SF4). Experimental structure, not a prediction.

What the evidence adds up to

A 2003 case report describes a 19-year-old woman with xeroderma pigmentosum who had multiple small pigmented basal cell carcinomas and pigmentary changes. She was treated with imiquimod 5% cream and had an excellent clinical response, with only minor side-effects. This is a single patient, with no control, and the report does not provide quantitative measures such as tumour count reduction or duration of response.

A 2016 study of 11 XP patients (mean age 32, range 10–43; 4 males, 7 females) with head and neck cutaneous malignancies reports that squamous cell carcinoma was the most common tumour type (6 patients) and the orbital region the most common location (4 patients). Free tissue transfer was the most frequent surgical intervention (4 patients). The average number of surgical procedures per patient was 5.5 (range 1–25). Six patients were siblings, 5 had local recurrences, and one was lost to follow-up. The authors state there is no definitive treatment algorithm and that early surgical intervention and close follow-up remain the gold standard.

A 2023 study from southern Morocco describes the epidemiological, clinical, and therapeutic profile of XP patients treated in a plastic surgery department, noting the disease is relatively frequent in countries with high consanguinity rates. The abstract gives no patient numbers, no treatment outcomes, and no quantitative data. It specifies only that the study aims to present the modalities of oncologic and reparative surgical treatment.

What is still missing: prospective trials of any topical or systemic therapy for XP-associated skin cancers; any controlled data on imiquimod beyond a single case; validated endpoints for tumour prevention or regression in XP; and any stratification by XP complementation group (the 2003 case is group A, but the other studies do not specify subgroups). No drug other than imiquimod appears in these abstracts.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

British Journal of Dermatology · 2003 · 38 citations

Excellent response of basal cell carcinomas and pigmentary changes in xeroderma pigmentosum to imiquimod 5% cream

AbstractXeroderma pigmentosum (XP) is an autosomal recessive disease in which patients have a 1000-fold increased risk of developing cutaneous neoplasms. Management of patients with XP is a difficult therapeutic challenge as they usually present with many cutaneous malignancies and continue to form skin tumours at a high rate. We describe a 19-year-old woman with XP who had been previously treated with many different therapeutic approaches. She had an excellent clinical response of her multiple small pigmented basal cell carcinomas and pigmentary changes using imiquimod 5% cream with only minor side-effects.

https://doi.org/10.1046/j.1365-2133.2003.05613.x
Archives of Plastic Surgery · 2016 · 9 citations · open access

Technical Aspects and Difficulties in the Management of Head and Neck Cutaneous Malignancies in Xeroderma Pigmentosum

AbstractBACKGROUND: Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by xerosis, ultraviolet light sensitivity, and cutaneous dyspigmentation. Due to defects in their DNA repair mechanism, genetic mutations and carcinogenesis inevitably occurs in almost all patients. In these patients, reconstruction of cutaneous malignancies in the head and neck area is associated with some challenges such as likelihood of recurrence and an aggressive clinical course. The aim of this study is to discuss the therapeutic options and challenges commonly seen during the course of treatment. METHODS: Between 2005 and 2015, 11 XP patients with head and neck cutaneous malignancies were included in this study. Demographic data and treatment options of the patients were evaluated. RESULTS: The mean age of the patients was 32 years (range, 10-43) (4 males, 7 females). The most common tumor type and location were squamous cell carcinoma (6 patients) and the orbital region (4 patients), respectively. Free tissue transfer was the most commonly performed surgical intervention (4 patients). The average number of surgical procedures was 5.5 (range, 1-25). Six patients were siblings with each other, 5 patients had local recurrences, and one patient was lost to follow-up. CONCLUSIONS: Although genetic components of the disease have been elucidated, there is no definitive treatment algorithm. Early surgical intervention and close follow-up are the gold standard modalities due to the tendency toward rapid tumor growth and possible recurrence. Treatment must be individualized for each patient. In addition, the psychological aspect of the disease is an important issue for both patients and families.

https://doi.org/10.5999/aps.2016.43.4.344
Journal of Pigmentary Disorders · 2015 · 6 citations

Xeroderma Pigmentosum-A Rare Genodermatosis: Overview of Literature

AbstractXeroderma pigmentosum is a rare genodermatosis, autosomal recessive in nature in which excessive ultraviolet radiation causes skin, ocular, neurological, and oral lesions along with development of cutaneous and internal malignancies at an early age. There is no definitive cure for the disease. Avoidance of ultraviolet radiation, use of protective clothing, sunscreens, oral retinoids, 5-fluorouracil and regular consultations with dermatologists, ophthalmologists, neurologists and dentists forms an important part of the treatment protocol. This paper aims to throw light on the etiopathogenesis, clinical features and treatment modalities of this life threatening disease. There is also a special mention on the oral manifestations and dental health considerations of the rare disorder.

https://doi.org/10.4172/2376-0427.1000230
Zenodo (CERN European Organization for Nuclear Research) · 2023 · 0 citations · open access

XERODERMAPIGMENTOSUM: EPIDEMIOLOGICAL, CLINICAL AND THERAPEUTIC ASPECTS

AbstractXeroderma Pigmentosum (XP) is a rare and disabling genetic dermatosis that was first described in 1874. It is characterized by photo-induced cutaneous alterations, often associated with ocular lesions and sometimes with neurological involvement. The transmission of XP is on an autosomal recessive mode, and it is relatively frequent in countries with high consanguinity rates and large family sizes, such as those in the Maghreb region. This study aims to present an epidemiological, clinical, and histological profile of XP patients treated in the plastic surgery department in southern Morocco, reflecting the regions epidemiological reality and specifying the modalities of oncologic and reparative surgical treatment.

https://doi.org/10.5281/zenodo.8385933
International Journal of Advanced Research · 2023 · 0 citations · open access

XERODERMAPIGMENTOSUM: EPIDEMIOLOGICAL, CLINICAL AND THERAPEUTIC ASPECTS

AbstractXeroderma Pigmentosum (XP) is a rare and disabling genetic dermatosis that was first described in 1874. It is characterized by photo-induced cutaneous alterations, often associated with ocular lesions and sometimes with neurological involvement. The transmission of XP is on an autosomal recessive mode, and it is relatively frequent in countries with high consanguinity rates and large family sizes, such as those in the Maghreb region. This study aims to present an epidemiological, clinical, and histological profile of XP patients treated in the plastic surgery department in southern Morocco, reflecting the regions epidemiological reality and specifying the modalities of oncologic and reparative surgical treatment.

https://doi.org/10.21474/ijar01/17363

Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.

DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.