Rare & Orphan Lab · DeCure for X

DeCure for Ehlers-Danlos syndrome, kyphoscoliotic type 1

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Ehlers-Danlos syndrome, kyphoscoliotic type 1 — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module3 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0080734$DeCureRare

The disease map

Disease moduleEhlers-Danlos syndrome, kyphoscoliotic type 1 maps to a 3-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 ehlers-danlos syndrome, kyphoscoliotic type 1 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

ATP binding cassette subfamily D member 1 (ABCD1)ABCD1 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 7X0Z · 2.96 Å · ligand ADENOSINE-5'-TRIPHOSPHATE (ATP). Experimental structure, not a prediction.

What the evidence adds up to

Ehlers-Danlos syndrome is a heterogenous group of connective tissue disorders. Seven clinical types had been identified by 1982, with underlying biochemical defects defined in types IV through VII. Most patients with major vascular complications of EDS have few of the commonly recognised musculoskeletal and cutaneous abnormalities. The 1982 abstract states that recognition of the correct diagnosis and application of accepted vascular surgical techniques may improve morbidity and mortality, but provides no patient numbers, survival data, or response rates.

Ehlers-Danlos syndrome type VI, the kyphoscoliotic type, is a rare autosomal recessively inherited connective tissue disorder. A 1998 report describes a patient who developed severe kyphoscoliosis long before diagnosis was reached. The authors conclude that early biochemical diagnosis and a timely operative procedure by extensive posterior instrumentation is the basis for successful management. No drug treatment is mentioned in any of these abstracts.

A 1997 case report describes a 38-year-old woman with Ehlers-Danlos syndrome type II who underwent caesarean delivery at 34 weeks’ gestation under subarachnoid block. No adverse side effects or complications developed. This is a single case, not a trial, and concerns anaesthetic management, not disease-modifying therapy.

No abstract in this set reports any drug treatment, any clinical trial, any survival data, or any response rate for Ehlers-Danlos syndrome, kyphoscoliotic type 1. What is missing is any evidence for a pharmacological intervention, any controlled trial design, any patient stratification by molecular subtype, and any funding for drug-repurposing research in this specific condition.

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 Surgery · 1982 · 62 citations

Vascular Manifestations in Patients With Ehlers-Danlos Syndrome

AbstractEhlers-Danlos syndrome (EDS) is clinically and genetically a heterogenous disorder of connective tissue synthesis. Seven clinical types of this disease have been identified and the underlying biochemical defects defined in types IV through VII. Unfortunately, most patients with major vascular complications of EDS have few, if any of the commonly recognized musculoskeletal and cutaneous abnormalities. Recognition of the correct diagnosis and the application of accepted vascular surgical techniques may improve the morbidity and mortality for these patients.

https://doi.org/10.1001/archsurg.1982.01380280075015
Acta Paediatrica · 1998 · 24 citations

Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management

AbstractEhlers-Danlos Syndrome Type VI (EDS VI) is a rare autosomal recessively inherited connective tissue disorder, which poses several problems of diagnosis and management. We report on a patient who developed severe kyphoscoliosis long before the diagnosis was reached. We conclude that early biochemical diagnosis and a timely operative procedure by extensive posterior instrumentation is the basis for successful management of this disorder.

https://doi.org/10.1080/080352598750014184
Acta Paediatrica · 1998 · 21 citations

Ehlers‐Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management

AbstractEhlers‐Danlos Syndrome Type VI (EDS VI) is a rare autosomal recessively inherited connective tissue disorder, which poses several problems of diagnosis and management. We report on a patient who developed severe kyphoscoliosis long before the diagnosis was reached. We conclude that early biochemical diagnosis and a timely operative procedure by extensive posterior instrumentation is the basis for successful management of this disorder.

https://doi.org/10.1111/j.1651-2227.1998.tb01537.x
Regional Anesthesia & Pain Medicine · 1997 · 10 citations

Anesthesia for cesarean delivery in a patient with ehlers-danlos syndrome type II

AbstractBACKGROUND AND OBJECTIVES: Ehlers-Danlos syndrome, an inherited connective tissue disease, is rarely seen in pregnancy. Presentation may be mild or severe, depending on which type of the syndrome the patient possesses. METHODS: A 38-year-old woman with Ehlers-Danlos syndrome type II presented for cesarean delivery at 34 weeks' gestation with premature rupture of membranes and breech presentation. RESULTS: A subarachnoid block was chosen to provide surgical anesthesia. No adverse side effects or complications developed. CONCLUSION: In patients with Ehlers-Danlos syndrome, it is important to be aware of which type is present and to be knowledgeable about and prepared for any potential complications.

https://doi.org/10.1016/s1098-7339(06)80015-5

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.