DeCure for Normophosphatemic familial tumoral calcinosis
DeCure's autonomous Cancer AI scientist is researching a drug-repurposing hypothesis for normophosphatemic familial tumoral calcinosis — 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 moduleNormophosphatemic familial tumoral calcinosis 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 normophosphatemic familial tumoral calcinosis 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
sterile alpha motif domain containing 9 (SAMD9) — SAMD9 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 atpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9ZJR · 2.53 Å · ligand ADENOSINE-5'-TRIPHOSPHATE (ATP). Experimental structure, not a prediction.
What the evidence adds up to
Normophosphatemic familial tumoral calcinosis is an extremely rare disease caused by mutations in the sterile alpha motif domain containing 9 gene (SAMD9). It is characterised by multilobulated calcific masses, most commonly occurring within the periarticular soft regions of large joints. Patients with normal phosphatemia have inflammatory manifestations that are absent in those with hyperphosphatemia. A 2022 case report describes an 11-year-old female patient managed by complete surgical excision.
A 1981 report notes that tumoral calcinosis masses tend to recur after incomplete excision, and that phosphate binders may be useful in certain cases. However, that report primarily describes the hyperphosphatemic form. A 2010 review states that both drugs and surgical excision can be used in treatment, but the outcome is unsatisfied. A 2025 review covering both forms of tumoral calcinosis reports that efficacy data are limited to clinical case reports and small cohorts of patients, and that no clearly effective treatment approaches have been identified so far.
No drug has been tested in a controlled trial specifically for normophosphatemic familial tumoral calcinosis. The 2025 review discusses experimental models for studying the biological mechanisms underlying tumoral calcinosis, but these have not yet yielded a proven therapy. The natural history of the condition, including whether masses regress or progress over time, is not described in quantitative terms in these abstracts.
What is missing is any prospective trial, any validated outcome measure for calcific mass volume or inflammation, and any patient stratification by SAMD9 genotype. Without funding for a multi-centre natural history study and a randomised trial of a candidate drug, no treatment can be recommended.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Pediatrics and Adolescent Medicine · 1981 · 29 citations
Tumoral Calcinosis in an Infant
AbstractTumoral calcinosis is a disease characterized by large, calcified, painless masses, usually near joints, in otherwise healthy children and young adults. Biochemical findings are normal except for an association with hyperphosphatemia. A familial and racial predisposition is seen, with most cases affecting blacks. This disease is believed to represent an unknown inherited abnormality in phosphate metabolism. Because of the tendency of the masses to recur after incomplete excision, the recommended treatment is early and complete excision. Phosphate binders may be useful in certain cases.
Journal of Pediatric Endocrinology and Metabolism · 2021 · 7 citations
Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate
AbstractOBJECTIVES: Familial hyperphosphatemic tumoral calcinosis is a rare disorder characterized by hyperphosphatemia with recurrent ectopic periarticular calcifications, in addition to other visceral and vascular manifestations, without any inflammatory or neoplastic disorder. The available treatment strategies are limited. Here we report an eight year old female patient with recurrent lesions under the chin, and bilateral hips which are painful and improving of the size of the lesions and hyperphosphatemia. CASE PRESENTATION: The patient was started to the treatment with peroral acetazolamide however the lesion did not regress but a new lesion appeared then we added sevelamer and topical sodium thiosulfate treatment for three months. After the three months of the combination treatment the lesions, there were no pain, no hyperphospahtemia regression/disappearance of the lesions. CONCLUSIONS: This combination treatment or topical sodium thiosulfate use only may be a novel treatment strategy for the patients prospective controlled trials are needed.
International Journal of Bone Fragility · 2025 · 1 citations · open access
Tumoral calcinosis: a rare and disabling bone disorder
AbstractFamilial tumoral calcinosis (TC) is an extremely rare disease characterized by multilobulated calcific masses most commonly occurring within the periarticular soft regions of large joints. Two forms of TC have been reported according to the literature. Normophosphatemic TC (NTC) is a genetically determined disorder caused by mutations in the sterile alpha motif domain containing 9 gene (SAMD9). Instead, hyperphosphatemic TC (HTC) is caused by variations in FGF23 (the gene encoding fibroblast growth factor 23, a phosphaturic protein and important hormone regulator of phosphate homeostasis), in GALNT3 (the gene encoding N-acetylgalactosaminyltransferase 3, which is responsible for FGF23 O-glycosylation serving to protect intact FGF23 from proteolytic processing), or in α-Klotho (a co-receptor for FGF23 whose alteration leads to FGF23 deficiency or resistance and consequently hyperphosphatemia and ectopic calcification). A variety of treatment approaches have been attempted to manage blood phosphate levels, reduce pain and inflammation, and treat HTC-associated calcifications and their complications. Unfortunately, efficacy data are limited to clinical case reports and small cohorts of patients, and no clearly effective treatment approaches have been identified so far. This concise review aims to provide a brief overview of current understanding of the etiopathogenesis, diagnostic modalities, and treatment options for HTC, and to discuss the currently available experimental models for studying the biological mechanisms underlying TC. KEY WORDS: Tumoral calcinosis, ectopic calcifications, rare bone disorder.
International Journal of Dermatology and Venereology · 2010 · 0 citations
Familial tumoral calcinosis
AbstractFamilial tumoral calcinosis is a kind of autosomal recessive disease that is associated with gene mutation. Familial tumoral calcinosis is grouped into two types: hyperphosphatemia and normal phosphatemia. It is clinically characterized by calcinosis in skin, cutaneous tissue, periarticular soft tissue and (or) intemal tissue. Patients with normal phosphatemia have inflammatory manifestations that are absent in those with hyperphosphatemia. The diagnosis of familial tumoral calcinosis depends on clinical manifestations, radiology and pathology. Both drugs and surgical excision can be used in the treatment of familial tumoral calcinosis, but the outcome is unsatisfied.
Key words:
Calcinosis; Heredity; Genes; Mutation
Zenodo (CERN European Organization for Nuclear Research) · 2022 · 0 citations · open access
PRIMARY NORMO-PHOSPHATEMIC TUMORAL CALCINOSIS - A RARE ENTITY
AbstractTumoral calcinosis is a rare benign condition, characterized by massive deposition of calcium salts into peri-articular soft tissues. Majority are secondary to underlying chronic disorders like chronic renal failure. Primary Normo-phosphatemicTumoral Calcinosis is a rare entity. I hereby, report a case of primary normo-phosphatemictumoral calcinosis in a 11 years old female patient, managed by complete surgical excision.
International Journal of Advanced Research · 2022 · 0 citations · open access
PRIMARY NORMO-PHOSPHATEMIC TUMORAL CALCINOSIS - A RARE ENTITY
AbstractTumoral calcinosis is a rare benign condition, characterized by massive deposition of calcium salts into peri-articular soft tissues. Majority are secondary to underlying chronic disorders like chronic renal failure. Primary Normo-phosphatemicTumoral Calcinosis is a rare entity. I hereby, report a case of primary normo-phosphatemictumoral calcinosis in a 11 years old female patient, managed by complete surgical excision.
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.
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