DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for enhanced S-cone syndrome — 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 moduleEnhanced S-cone syndrome 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 enhanced s-cone 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
solute carrier family 17 member 5 (SLC17A5) — SLC17A5 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 acedrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8U3G · 3.42 Å · ligand ACETYL GROUP (ACE). Experimental structure, not a prediction.
What the evidence adds up to
Of sixteen patients with fundus albipunctatus and an RDH5 gene mutation, six (38%) had cone b-wave amplitudes below the lowest normal limit on standard full-field electroretinograms. The cone dysfunction was mainly due to loss of cone photoreceptors, and the rod system was also reduced in those patients. Cone dysfunction tended to be more severe in older patients. No treatment was tested in this study.
A separate study of S-cone function after retinal detachment surgery found that the short-wavelength (S) cone b-wave did not improve over six months after successful reattachment, while the long- and middle-wavelength cone b-wave did improve significantly. The S-cone recovery was better only if surgery occurred within four weeks of detachment. This suggests S-cones are more vulnerable to permanent damage than other cone types.
No abstract in this set reports any drug treatment for enhanced S-cone syndrome. The available evidence describes the natural history of cone dysfunction in related conditions and the poor recovery of S-cone function after injury. What is missing is any clinical trial of a drug for enhanced S-cone syndrome, any patient stratification by genotype, and any funding for such a trial.
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 Neurology · 2008 · 460 citations
Treatment of Neuromyelitis Optica With Rituximab
AbstractBACKGROUND: Neuromyelitis optica (NMO) is an uncommon, life-threatening inflammatory demyelinating disorder. Recently, much has become known about its immunopathogenesis. However, optimal treatments, with expected outcomes, have not been established. OBJECTIVE: To evaluate the use and efficacy of rituximab for treating NMO. DESIGN: Retrospective multicenter case series of NMO patients treated with rituximab. SETTING: Seven tertiary medical centers in the United States and England. PATIENTS: Twenty-five patients (including 2 children), 23 of whom experienced relapses despite use of other drugs before rituximab. Extended follow-up of 7 previously reported patients is included. INTERVENTIONS: Infusions of rituximab at median intervals of 8 months. MAIN OUTCOME MEASURES: Annualized relapse rate and disability (expressed as Expanded Disability Status Scale score). RESULTS: At a median follow-up of 19 months, the median annualized posttreatment relapse rate was lower than the pretreatment rate (0 [range 0-3.2] vs 1.7 [range, 0.5-5] relapses, P < .001). Disability improved or stabilized in 20 of 25 patients (80%, P = .02). Two patients died during the follow-up period, 1 owing to a brainstem relapse and 1 owing to suspected septicemia. Infections were reported in 20% of patients. CONCLUSIONS: In NMO, treatment with rituximab appears to reduce the frequency of attacks, with subsequent stabilization or improvement in disability.
Cone and Rod Dysfunction in Fundus Albipunctatus with<i>RDH5</i>Mutation: An Electrophysiological Study
AbstractPURPOSE: A prior study showed that some patients with fundus albipunctatus (FA) have severely reduced full-field cone ERGs. The purpose of this study was to investigate the frequency of cone dysfunction and to determine the cause of the reduced full-field cone ERGs in patients with FA and whether the rod system is affected in patients with FA. METHODS: Sixteen consecutive patients with FA (from 1993 to 2003; eight males, eight females; mean age, 25.4 years) with an RDH5 gene mutation were studied. The amplitudes and implicit times of the standard cone ERGs in the patients with FA were compared to those obtained from normal subjects (n = 55). The a-waves of cone ERGs were also elicited by a bright flash and were fitted to a mathematical model of the a-wave. Rod ERG responses were elicited by dim blue flashes after 3 hours of dark adaptation. RESULTS: The amplitude of the b-wave of the cone ERG in the FA group varied considerably from within the normal limits to markedly decreased. Six of 16 patients with FA had b-wave amplitudes that were smaller than the lowest limit of the control subjects. The degree of cone dysfunction tended to be more severe in older patients. The analysis of the cone a-wave demonstrated that R(m) (maximal response amplitude) in the patients with FA with reduced standard cone ERGs was significantly smaller than that in control subjects. Rod ERGs were also reduced in the patients with FA who had reduced cone ERGs. CONCLUSIONS: In patients with FA, 38% had extensive cone dysfunction. The reduced full-field cone ERGs were mainly due to the loss of cone photoreceptors, and the rod system was also affected in some patients.
Journal of Neurology Neurosurgery & Psychiatry · 2005 · 33 citations · open access
Functional improvement after subthalamic stimulation in Parkinson's disease: a non-equivalent controlled study with 12-24 month follow up
AbstractOBJECTIVE: This study aimed to assess the effectiveness of chronic bilateral STN-S in improving the functional status of PD patients compared with patients treated with drugs alone. METHODS: Controlled study of disability index changes over 12 and 24 month chronic STN stimulation. Of 39 patients with advanced PD meeting CAPSIT criteria for STN-S, 23 underwent surgery; 16 patients decided against surgery and continued on drug schedule adjustments. Functional status was measured using the Activities of Daily Living section of the Unified Parkinson's Disease Rating Scale (UPDRS-ADL), Brown's Disability Scale, and Functional Independence Measure. UPDRS motor score and subscores for selected items, levodopa equivalent daily dose, and Beck Depression Inventory scores were also monitored. RESULTS: T12 follow up data were available for all 39 patients and T24 data for 13 STN-S and 8 control subjects. Compared with controls, STN-S patients experienced significant or highly significant improvements in all independence measures at both 12 and 24 months (time x treatment effect T12: F = 19.5, p = 0.00008; T24: F = 6.2, p = 0.005). Forward stepwise regression for independent predictors of the yearly rate of UPDRS-ADL score modification in the entire sample showed that treatment was the only factor significantly associated with functional status change (beta coefficient -0.54, t value -2.5, p = 0.02), whereas other variables-UPDRS motor score, BDI, and age at disease onset and enrolment-were not in the equation. CONCLUSION: STN-S is an effective therapeutic option in advanced PD. It induced a consistent improvement of functional abilities over two years to an extent that was not achieved with drug therapy alone.
British Journal of Ophthalmology · 2001 · 25 citations · open access
Changes of cone electroretinograms to colour flash stimuli after successful retinal detachment surgery
AbstractAIM: To examine the changes in the short wavelength (S) and mixed long (L) and middle (M) wavelength sensitive cone (L,M-cone) electroretinograms (ERGs) after successful retinal detachment surgery. METHODS: Cone ERGs elicited by different colour flashes were recorded from 19 eyes with unilateral rhegmatogenous retinal detachment treated successfully by conventional buckling surgery. Ganzfeld colour flashes on a bright white background were used to elicit S-cone and L,M-cone ERGs. The ratio (operated eye/fellow eye) of the S-cone b-wave elicited by a 450 nm stimulus and the ratio (operated eye/fellow eye) of the L,M-cone b-wave elicited by a 633 nm stimulus were evaluated preoperatively and 1, 3, and 6 months after surgery. RESULTS: Preoperatively, no significant difference was observed between the ratio of the S-cone ERG amplitudes and the ratio of the L,M-cone ERG amplitudes. Postoperatively, the ratio of the L,M-cone ERGs increased significantly over the preoperative value (p=0.001) but the ratio of the S-cone ERG did not improve. There were significant differences between the ratios of the S-cone and the L,M-cone ERGs at 1, 3, and 6 months after surgery. The postoperative recovery of the S-cone ERG was significantly greater in eyes treated within 4 weeks after the onset of the detachment than in eyes treated later than 4 weeks. CONCLUSIONS: These results indicate that the impairment of the L,M-cone system caused by retinal detachment may be reversible. However, the S-cone system may have more profound permanent damage.
OCULAR FUNDUS IMAGES BY SCANNING LASER OPHTHALMOSCOPY IN A PATIENT WITH ENHANCED S-CONE SYNDROME
AbstractIn Brief Purpose: To present ocular fundus images in a patient with enhanced S-cone syndrome by scanning laser ophthalmoscopy. A 34-year-old Japanese woman whose parents were consanguineous showed mismatched electroretinographic responses to photopically balanced single-flash stimuli, with a larger signal to blue light than to red light. The central macula lacked a foveal reflex, and the surface was dull. Yellowish flecks and retinal pigment epithelium atrophy were evident in a ring at and around the vascular arcades. Faint black pigmentation was deposited in the mid peripheral retina. Methods: The ocular fundus of the patient was observed by scanning laser ophthalmoscopy with the use of an argon blue laser (wavelength, 488 nm), a helium-neon laser (633 nm), and an infrared laser (780 nm). Results: The argon blue laser showed numerous black spots of pigment, which were observed as faint pigmentation by conventional ophthalmoscopy. The spots were more enhanced with the argon blue laser than with the helium-neon laser. The white spots, which corresponded to the yellowish flecks in a ring at and around the vascular arcades, were more enhanced with the helium-neon laser than with the argon blue or infrared laser. Hypopigmentation of the retinal pigment epithelium was best shown with the infrared laser. Conclusion: An abnormality of the retinal structure in enhanced S-cone syndrome may exist in the inner and outer retinal levels, in at least some patients. Although it is not clear how the abnormal findings demonstrated by SLO and OCT in this patient are correlated with the previous reports in human and nonhuman retinal structures, an abnormality of the retinal structure in ESCS might exist in both outer and inner retinal levels, in at least some patients.
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.
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