DeCure.ai

Rare & Orphan Lab · DeCure for X

DeCure for Infantile osteopetrosis with neuroaxonal dysplasia

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for infantile osteopetrosis with neuroaxonal dysplasia — 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:0070343$DeCureRare

The disease map

Disease moduleInfantile osteopetrosis with neuroaxonal dysplasia 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 infantile osteopetrosis with neuroaxonal dysplasia 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.

Evidence

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

JBMR Plus · 2022 · 13 citations · open access

Open‐Label Pilot Study of Interferon Gamma–1b in Patients With Non‐Infantile Osteopetrosis

AbstractABSTRACT The only treatment currently available for patients with severe infantile osteopetrosis is hematopoietic cell transplantation (HCT). HCT‐related toxicity and mortality risks typically preclude its use in non‐infantile patients, and other therapies are needed for these patients who have significant disease‐related morbidity. Interferon gamma‐1b is currently approved by the U.S. Food and Drug Administration (FDA) for treatment of severe infantile osteopetrosis (autosomal recessive osteopetrosis [ARO]). However, little is known about the effects of interferon gamma‐1b in non‐infantile osteopetrosis. Thus, this pilot study aimed at testing the safety and tolerability of interferon gamma‐1b in patients with non‐infantile osteopetrosis and assessing the clinical effects. We performed a 12‐month, open‐label, multi‐center pilot study involving patients >1 year‐old diagnosed radiographically with osteopetrosis. Patients were initiated on interferon gamma‐1b subcutaneously 15 μg/m 2 three times weekly, to be titrated over 3 weeks to a goal of 100 μg/m 2 three times weekly. The primary aim was safety and tolerability. The secondary aims were to assess changes in peripheral quantitative computed tomography (pQCT), dual‐energy x‐ray absorptiometry (DXA) bone mineral density (BMD) Z‐scores, bone biomarkers, and quality‐of‐life (QOL) measures. Four of the five participants enrolled withdrew from the study between 3 and 9 months due to intolerability of interferon gamma‐1b–related flu‐like symptoms. The last participant completed the study with the addition of prednisone on days of interferon gamma‐1b administration. DXA and pQCT outcomes were stable over 6–12 months, and there were no clear trends in bone biomarkers or QOL measures. No serious drug‐related adverse events were reported during this study. Interferon gamma‐1b was only tolerable in one of five participants with the addition of prednisone. The stabilization of BMD and other measures of bone health during this study suggest possible positive effects of interferon gamma‐1b on osteopetrosis; however, additional data are needed before conclusions on treatment efficacy can be made. © 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

https://doi.org/10.1002/jbm4.10597
Clinical Pediatrics · 1999 · 6 citations

Physiologic Osteoscierosis Versus Osteopetrosis of the Newborn

AbstractP hysiologic osteosclerosis of the newborn is characterized by transient, generalized increase in bone density that usually resolves in 2 to 3 months.' Since it is rare, it may be confused with other conditions causing increased bone density, including infantile osteopetrosis. We report two infants who presented at 2 weeks of age with unrelated clinical conditions and in whom a diagnosis of infantile osteopetrosis

https://doi.org/10.1177/000992289903800405

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.