Rare & Orphan Lab · DeCure for X

DeCure for CODAS syndrome

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for CODAS syndrome — 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:0111274$DeCureRare

The disease map

Disease moduleCODAS syndrome 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 codas syndrome 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

lon peptidase 1, mitochondrial (LONP1)LONP1 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 7OXO · 3.9 Å · ligand ADENOSINE-5'-DIPHOSPHATE (ADP). Experimental structure, not a prediction.

What the evidence adds up to

CODAS syndrome is an autosomal recessive disorder with an incidence of less than 1 in 1 million children. Since the first case in 1991, only a handful of cases have been reported worldwide. As of 2024, no drug or medical treatment cases had been documented for any reported CODAS syndrome patient, including any indications or contraindications for medication use. One 2024 case report describes the first patient treated with growth hormone and aromatase inhibitors for CODAS syndrome; the authors monitored the child’s growth and skeletal changes for nearly three years before and after treatment, as well as potential adverse events. No numerical outcomes (height change, bone age, adverse event rates) are given in the abstract.

A separate 2023 case from Saudi Arabia describes a 1-year-old female who presented at 4 months with developmental delay, inability to support her head, no eye contact, and microcephaly. Her sister died at 3 days of age with microcephaly and diaphragmatic hernia. That report contains no treatment data. The authors note a lack of sufficient solid literature on the topic and encourage wider reporting of cases.

The only treatment attempt reported to date is the single 2024 case using growth hormone and an aromatase inhibitor, with no quantitative results yet published. What is missing: any controlled trial, any replicated treatment data, any validated outcome measures for CODAS syndrome, and any evidence that the reported intervention alters the natural history of the disease. The extreme rarity of the condition means that even single-case reports are the only available evidence, and no drug can be recommended on that basis.

Evidence

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

Data Archiving and Networked Services (DANS) · 2024 · 0 citations · open access

The case report of CODAS syndrome

AbstractCODAS syndrome is a rare autosomal recessive genetic disorder, with an incidence in children of less than 1 in 1 million. Since the first case was discovered in 1991, only a few cases have been reported worldwide. Currently, there are no drug or medical treatment cases documented for all reported CODAS syndrome cases, including indications and contraindications for medication use. This patient is the first case treated with growth hormone and aromatase inhibitors for CODAS syndrome. We monitored the child's growth and skeletal changes for nearly three years before and after treatment, as well as potential adverse events. This may provide clinical significance for future treatment options in CODAS syndrome patients.

https://doi.org/10.17632/5xbzr9c8md.1
Mendeley Data · 2024 · 0 citations · open access

The case report of CODAS syndrome

AbstractCODAS syndrome is a rare autosomal recessive genetic disorder, with an incidence in children of less than 1 in 1 million. Since the first case was discovered in 1991, only a few cases have been reported worldwide. Currently, there are no drug or medical treatment cases documented for all reported CODAS syndrome cases, including indications and contraindications for medication use. This patient is the first case treated with growth hormone and aromatase inhibitors for CODAS syndrome. We monitored the child's growth and skeletal changes for nearly three years before and after treatment, as well as potential adverse events. This may provide clinical significance for future treatment options in CODAS syndrome patients.

https://doi.org/10.17632/5xbzr9c8md
International Conference on Internet Computing · 2004 · 0 citations

Effectiveness of Dynamic Clustering Techniques in Real-time Web Search System.

AbstractCODAS syndrome (cerebral, ocular, dental, auricular, skeletal anomalies) is a rare autosomal recessive inherited multisystemic disease that carries an incidence rate of less than 1 in 1,000,000 children worldwide. It has an infancy, neonatal age of onset, characterized by deformities of the central nervous system, eyes, ears, teeth, and skeleton. A 1-year-old female of non-consanguineous parents, first time presented to our pediatrics clinic on November 6, 2021 when she was 4 months of age with developmental delay, as the patient could not support her head and made no eye contact on examination. Microcephaly was observed. She had a positive family history; her sister died at the age of 3 days with microcephaly and diaphragmatic hernia. We recommend that a wider range of centers to get encouraged to report cases of CODAS they might encounter due to the lack of sufficient amounts if solid literature on the topic. To our knowledge, this is the first case to be reported in the literature from Saudi Arabia.

https://doi.org/10.1016/j.radcr.2022.11.085
Greater South Information System · 2023 · 0 citations · open access

Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: First case reported in Saudi Arabia

AbstractCODAS syndrome (cerebral, ocular, dental, auricular, skeletal anomalies) is a rare autosomal recessive inherited multisystemic disease that carries an incidence rate of less than 1 in 1,000,000 children worldwide. It has an infancy, neonatal age of onset, characterized by deformities of the central nervous system, eyes, ears, teeth, and skeleton. A 1-year-old female of non-consanguineous parents, first time presented to our pediatrics clinic on November 6, 2021 when she was 4 months of age with developmental delay, as the patient could not support her head and made no eye contact on examination. Microcephaly was observed. She had a positive family history; her sister died at the age of 3 days with microcephaly and diaphragmatic hernia. We recommend that a wider range of centers to get encouraged to report cases of CODAS they might encounter due to the lack of sufficient amounts if solid literature on the topic. To our knowledge, this is the first case to be reported in the literature from Saudi Arabia.

https://doi.org/10.60692/7kw5p-3b597

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.