Rare & Orphan Lab · DeCure for X

DeCure for Osteogenesis imperfecta type 8

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for osteogenesis imperfecta type 8 — 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:0110336$DeCureRare

The disease map

Disease moduleOsteogenesis imperfecta type 8 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 osteogenesis imperfecta type 8 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

prolyl 3-hydroxylase 1 (P3H1)P3H1 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 akgdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 8K0M · 3.17 Å · ligand 2-OXOGLUTARIC ACID (AKG). Experimental structure, not a prediction.

What the evidence adds up to

The abstracts provided do not contain any data on osteogenesis imperfecta type VIII specifically. The 1987 abstract concerns type IIA OI, reporting 30 cases, all isolated, with a significant paternal age effect, and concludes most cases result from new dominant mutations. No treatment data are given.

A 1981 review of systemic treatment for OI states that 70% of published articles claimed benefit for 20 different agents, but that no form of treatment has been accepted as effective. It notes that a few medications hold some promise but lack adequate documentation, and that no agent available at that time was of any value to the practitioner.

A 1997 review describes progress in understanding biochemical and genetic abnormalities and in prenatal diagnosis, and states that medical and surgical management continue to improve, but that progress in treatment at a molecular level is encouraging. No concrete survival, response, or sample size numbers are reported. A 2013 review notes OI is a heterogeneous disorder of type I collagen with manifestations beyond brittle bones, and that specific anaesthetic considerations are needed. A 2016 Spanish-language paper describes the stigmatisation and lack of teacher knowledge regarding OI in physical education, not treatment. A 2024 letter criticises a proposed new OI classification as not novel and likely to cause confusion.

No abstract provides evidence for any drug treatment in osteogenesis imperfecta type VIII. What is missing is any clinical trial data, any patient stratification by OI type, and any funding for research specifically targeting type VIII.

Evidence

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

Journal of Medical Genetics · 1987 · 49 citations · open access

Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

AbstractThirty cases of radiologically proven type IIA osteogenesis imperfecta (OI) have been ascertained. All were isolated with 19 unaffected foreborn and 19 unaffected afterborn sibs. Two sets of parents, both Asian, were consanguineous. There was a significant parental age effect, most marked for paternal age. It is concluded that most cases of type IIA OI result from new dominant mutations.

https://doi.org/10.1136/jmg.24.7.386
Clinical Orthopaedics and Related Research · 1981 · 40 citations

Systemic Treatment of Osteogenesis Imperfecta

AbstractSeventy percent of published articles on the medical treatment of osteogenesis imperfecta have claimed beneficial results for 20 different agents. This observation conflicts with current practice since no form of treatment has been accepted as effective in dealing with the disease. A few medications or combinations of medications hold some promise, but adequate documentation must be availble before they can be accurately assessed. It is essential that the practitioner maintain a high degree of skepticism toward positive results of treatment regardless of the source. At the present time, no agent is available which will be of any value to the practitioner who has a patient with osteogenesis imperfecta.

https://doi.org/10.1097/00003086-198109000-00012
Current Opinion in Pediatrics · 1997 · 20 citations

Osteogenesis imperfecta

AbstractIn the past 20 years, tremendous strides have been made in our understanding of the biochemical and genetic abnormalities associated with osteogenesis imperfecta (OI). Prenatal diagnostic techniques have allowed early detection of this disorder, particularly in families in which the actual molecular defect is already known. Although medical and surgical management of patients with OI continue to improve, the proper management of such problems as basilar impression still need to be determined. Progress in the treatment of OI at a molecular level is encouraging.

https://doi.org/10.1097/00008480-199702000-00019
Estudios pedagógicos · 2016 · 10 citations · open access

Osteogénesis imperfecta y educación física: Un caso inédito de inclusión educativa

AbstractEl objetivo principal de este trabajo es indagar en la experiencia de inclusión educativa vivida por una alumna con osteogénesis imperfecta y por sus compañeras en una asignatura universitaria con contenidos relacionados con la educación física. La recogida de datos sobre la experiencia se realizó a lo largo de un cuatrimestre a partir de conversaciones informales con el profesor, entrevistas en profundidad y semi-estructuradas, y un cuestionario de respuesta abierta. El estudio revela la estigmatización sufrida por la alumna, tanto a nivel personal como académico (sobre todo en las clases de educación física) y el desconocimiento e inseguridad que manifiesta tener el futuro profesorado sobre esta enfermedad y cómo realizar un tratamiento inclusivo en sus clases. Asimismo, se describen las adaptaciones realizadas por el profesor de la asignatura con el fin de garantizar y ejemplificar la inclusión de una alumna con osteogénesis imperfecta en las clases de educación física.

https://doi.org/10.4067/s0718-07052016000100010
Orphanet Journal of Rare Diseases · 2024 · 1 citations · open access

Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

AbstractA paper published in Orphanet Journal of Rare Diseases proposes a new classification of osteogenesis imperfecta (OI) based upon underlying pathological mechanisms. The proposed numbering of OI types conflicts with the currently used numbering and is likely to lead to confusion. In addition, classification of OI according to underlying pathogenic mechanisms is not novel.

https://doi.org/10.1186/s13023-024-03269-9
Oxford University Press eBooks · 2013 · 0 citations

Osteogenesis Imperfecta

AbstractOsteogenesis imperfecta (OI) is a heterogeneous inherited disorder of type I collagen. Although it is most commonly known for the “brittle bones” that lead to multiple and recurrent fractures, OI has manifestations in other tissues where type I collagen is present. Moreover, the brain stem, cervical spine, and lungs can be affected indirectly due to the resultant bone abnormalities. A pre-anesthetic evaluation must review all systems and specific anesthetic considerations are necessary to reduce complications and improve outcomes of patients with OI.

https://doi.org/10.1093/med/9780199764495.003.0066

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.