Rare & Orphan Lab · DeCure for X

DeCure for Xeroderma pigmentosum group B

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for xeroderma pigmentosum group B — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module1 genesLead labRare & Orphan
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Rare & OrphanDOID:0110850$DeCureRare

The disease map

Disease moduleXeroderma pigmentosum group B maps to a 1-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 b 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

ERCC excision repair 3, TFIIH core complex helicase subunit (ERCC3)ERCC3 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 adpdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 7NVV · 2.9 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.

What the evidence adds up to

Xeroderma pigmentosum is an extremely rare autosomal recessive disease that produces a more than 1000-fold increase in nonmelanoma skin cancer. The condition arises from deficiencies in various gene products of the nucleotide excision repair pathway, with eight complementation groups identified (A–G and variant). Group B is one of these, but the abstracts provided do not give any specific molecular, clinical, or therapeutic data that distinguish group B from the other groups. No drug treatment is mentioned in any of these abstracts.

A 2016 study of 11 XP patients with head and neck cutaneous malignancies reported a mean age of 32 years (range 10–43; 4 males, 7 females). Squamous cell carcinoma was the most common tumour type (6 patients), and the orbital region was 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, five had local recurrences, and one was lost to follow-up. The authors state that there is no definitive treatment algorithm and that early surgical intervention with close follow-up remains the gold standard because of rapid tumour growth and frequent recurrence.

A 2023 study from southern Morocco describes XP as a rare genetic dermatosis characterised by photo-induced cutaneous alterations, often with ocular lesions and sometimes neurological involvement. It notes that the condition is relatively frequent in countries with high consanguinity rates and large family sizes, such as those in the Maghreb region. The study aims to present epidemiological, clinical, and histological profiles and to specify modalities of oncologic and reparative surgical treatment, but no numerical results or treatment outcomes are given in the abstract.

What is still missing for xeroderma pigmentosum group B specifically is any molecular characterisation of the group B defect, any patient series or clinical trial data that isolate group B from other complementation groups, and any drug-repurposing evidence whatsoever. The abstracts contain no mention of systemic therapy, chemoprevention, or gene therapy. Without funding for genotype-phenotype studies and stratified clinical trials that separate complementation groups, no treatment can be evaluated for this subgroup.

Evidence

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

Dermatologic Surgery · 1997 · 28 citations

The Molecular Basis of Xeroderma Pigmentosum

AbstractBACKGROUND: Xeroderma pigmentosum is an extremely rare, autosomal recessive disease characterized by a more than 1000-fold increase in nonmelanoma skin cancer. Individuals with this disease can be divided into eight complementation groups: A-G and V for variant. Each one represents a different genetic defect in DNA repair. OBJECTIVE: To review the molecular basis of xeroderma pigmentosum. RESULTS: Deficiencies in various gene products in the nucleotide excision repair pathway cause xeroderma pigmentosum in complementation groups A-G. The molecular basis of the variant group remains to be elucidated. CONCLUSIONS: Research into the genetic defects underlying xeroderma pigmentosum have led to an increased understanding of nucleotide excision repair.

https://doi.org/10.1111/j.1524-4725.1997.tb00084.x
Archives of Otolaryngology - Head and Neck Surgery · 1987 · 14 citations

Management of Xeroderma Pigmentosum

AbstractXeroderma pigmentosum is an autosomal recessive disease associated with a defect in DNA repair from damage by ultraviolet light. It is characterized by the development of cutaneous malignancies in childhood and by death from the local or systemic complications thereof by the third decade of life. The head and the neck are the most frequently affected areas. Management involves sunlight avoidance and prompt biopsy of any new skin lesion. Due to the chronic nature of the disease, it is necessary to excise the least amount of tissue consistent with tumor removal in order to preserve skin for future procedures. In some patients, radiation therapy and/or certain chemotherapeutic agents are abnormally cytotoxic and must be utilized with caution.

https://doi.org/10.1001/archotol.1987.01860030068010
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
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
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.8385934
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.