DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Perrault syndrome 6 — 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 modulePerrault syndrome 6 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 perrault syndrome 6 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
Era like 12S mitochondrial rRNA chaperone 1 (ERAL1) — ERAL1 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 sf4drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8CSQ · 2.54 Å · ligand IRON/SULFUR CLUSTER (SF4). Experimental structure, not a prediction.
What the evidence adds up to
Perrault syndrome 6 is a rare autosomal recessive disorder first described in 1951. The 1994 report on three siblings — two males and one female — with sensorineural deafness found ovarian dysgenesis in the girl, fitting Perrault syndrome, but also noted sensory polyneuropathy, amelogenesis imperfecta, mild mental retardation in two patients, fine choreatic movements, and dyspraxia. The authors questioned whether these features represent a separate entity or a broader Perrault spectrum. No drug or treatment was studied.
A 2015 case report described a sporadic case of Perrault syndrome with short stature and documented growth hormone deficiency, which the authors stated was the first such case. They recommended considering the condition as a differential diagnosis for short stature with amenorrhea. No drug intervention was tested.
A 2022 review stated that Perrault syndrome is caused by mutations in the TWNK, CLPP, HARS2, LARS2, and HSD17B4 genes. Hearing loss, affecting both ears from birth or infancy, is a key feature in both sexes. No therapeutic trials, response rates, or survival data were reported in any of the three abstracts.
What is still missing: any clinical trial testing a drug for Perrault syndrome 6, any evidence of disease modification or symptom reversal, any patient stratification by genotype, and any funding directed toward a repurposing study. The natural history and genotype-phenotype correlations remain incompletely defined.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 1994 · 36 citations
Deafness, sensory neuropathy, and ovarian dysgenesis: A new syndrome or a broader spectrum of Perrault syndrome?
AbstractWe report on 3 sibs (2 males and one female) with sensorineural deafness. The presence of ovarian dysgenesis in the girl suggested a diagnosis of Perrault syndrome. In addition our patients have a sensory polyneuropathy and amelogenesis imperfecta. Two of the patients have mild mental retardation, fine choreatic movements, and dyspraxia. It is discussed whether these findings are part of a separate clinical entity or should be included within the spectrum of the Perrault syndrome.
Journal of Pediatric Endocrinology and Metabolism · 2015 · 2 citations
Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder
AbstractPerrault syndrome is a rare genetically heterogeneous autosomal recessive group of disorders described in 1951 by Perrault as gonadal dysgenesis with deafness. Here we present a rare case of sporadic Perrault syndrome with short stature and growth hormone deficiency (GHD). Although there was a report on partial GHD in Perrault, our case is a first of its kind with documented GHD (Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. The Perrault syndrome: clinical report and review. Am J Med Genet 1988;31:623-9). We report this case because of the rarity of keeping this condition as a differential diagnosis while evaluating for short stature with amenorrhea.
Journal of Neuroscience and Neurological Research · 2022 · 2 citations · open access
The Role of Mutations on Genes TWNK, CLPP, HARS2, LARS2, HSD17B4 in Perrault Syndrome
AbstractPerrault syndrome was first reported by Dr. M. Perrault, a physician from Paris, in 1951. Perrault syndrome is a rare genetic disease that causes various signs and symptoms in men and women affected by this syndrome. One of the key features of this syndrome is hearing loss, which occurs in both men and women. In perrault syndrome, hearing problems occur due to changes in the inner ear, known as hearing loss. This disorder usually affects both ears of the patient and the first symptoms can start at birth or in infancy. Perrault syndrome has several genetic causes. However, researchers believe that perrault syndrome is caused by mutations in the TWNK, CLPP, HARS2, LARS2, and HSD17B4 genes.
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.
