DeCure's autonomous Metabolic AI scientist is researching a drug-repurposing hypothesis for steroid inherited metabolic disorder — 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 moduleSteroid inherited metabolic disorder 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 steroid inherited metabolic disorder 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
cytochrome P450 family 11 subfamily B member 2 (CYP11B2) — CYP11B2 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 hecdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6XZ9 · 2.77 Å · ligand HEME C (HEC). Experimental structure, not a prediction.
What the evidence adds up to
In a retrospective study of 10 biotinidase-deficient patients from northern India, median age at presentation was 6 months. Seizure, alopecia and hearing loss were the predominant phenotypes; focal seizure was the most common seizure type. The early-onset group (under 12 months) achieved seizure control in a median of 3 days, compared with 13.5 days in the late-onset group. The authors conclude that early diagnosis is needed for favourable outcome in this potentially treatable inherited metabolic disorder.
A five-year study of 30 children with frequently relapsing nephrotic syndrome who received prednisolone according to international guidelines found that the mean cumulative dose was 100 mg/kg per year. Height standard deviation score was unaffected after three years but decreased by 0.4 SD after five years. Body mass index SDS rose from 0.65 to 1.1 over five years; obesity and overweight increased from 25% before treatment to 59.2% after five years. After five years, impaired fasting glucose was detected in 35%, hypertension in 40%, high LDL in 77% and high cholesterol in 80%. The authors report that long-term steroid therapy was associated with higher rates of obesity, short stature and metabolic syndrome components.
A review of metabolic syndrome in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency notes that corticosteroid replacement is the primary treatment, but inadequate or excessive dosing is common. Several studies report that adults with 21-hydroxylase deficiency are at increased risk of metabolic syndrome and cardiovascular events, but the review states that few studies have examined metabolic disorders in affected children, and no domestic reports were available at the time of publication.
Three volumes of JIMD Reports (volumes 43, 44 and 45) present case and short research reports in inherited metabolic disorders, highlighting unusual or unrecorded features or serving as reminders of clinical or biochemical findings. No specific drug or outcome data from these volumes are provided in the abstracts.
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 CLINICAL AND DIAGNOSTIC RESEARCH · 2015 · 14 citations · open access
Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India
AbstractINTRODUCTION: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. MATERIALS AND METHODS: A retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method. RESULTS: Study group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08-1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (> 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group. CONCLUSION: This study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder.
The long-term (five years) effects of prednisone therapy in children with frequently relapsing nephrotic syndrome: A controlled study of anthropometric parameters and metabolic abnormalities.
AbstractBACKGROUND: Steroids are the main drugs used for the treatment of nephrotic syndrome (NS) in children. AIM OF THE STUDY: We investigated the steroid effect on linear growth and weight gain as well as the prevalence of different metabolic components and dysglycemia in children with NS with multiple relapses for 5 years in relation to the cumulative dose of steroids. Study population and sample size: Data of 30 children with NS were analyzed retrospectively. They received prednisolone treatment as advised by international guidelines. The cumulative dose of prednisolone (CDP) over the 5 years was calculated for each child. Their growth and different metabolic criteria, including impaired fasting glucose (IFG), high LDL and cholesterol, lower HDL, and high blood pressure studied over this period and compared with the data for 66 age-matched obese non-nephrotic children. RESULTS: The mean CDP was 100 ± 63 mg /kg/yr given over an average duration of 5 years. The height-SDS was not affected after 3 years but decreased by -0.4 SD after 5 years. The body mass index-SDS increased from 0.65 to 0.97 and 1.1 after 3 and 5 years, respectively. Obesity and overweight increased from 25% pre-treatment to 59.2% after 5 years of treatment. After 5 years of treatment, IFG was detected in 35 %, hypertension in 40%, high LDL in 77%, and high cholesterol in 80%. CONCLUSION: In children with frequently relapsing NS, long-term steroid therapy was associated with a higher rate of obesity, short stature as well as the occurrence of different metabolic syndrome (MetS.
AbstractThis contributed volume presents case and short research reports in the area of inherited metabolic disorders. It highlights some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
AbstractThis contributed volume presents case and short research reports in the area of inherited metabolic disorders. It highlights some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
AbstractThis contributed volume presents case and short research reports in the area of inherited metabolic disorders. It highlights some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Research progress of metabolic syndrome in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
AbstractCongenital adrenal hyperplasia (CAH) owing to steroid 21-hydroxylase deficiency (21-OHD) was a relatively frequent of autosomal recessive disorders characterized by the inactivation of the steroid-synthesizing enzyme in the adrenocortex.Corticosteroids (glucocorticoids and mineralocorticoid) replacement therapy was the primary treatment of 21-OHD.The main objective of 21-OHD treatment in children was to maintain normal growth.Inadequate or excessive treatment was commonly observed.A number of studies reported that 21-OHD adult were at increa-sing risk of developing metabolic syndrome and cardiovascular events.However, there was few researches on 21-OHD children with metabolic disorders, and no domestic reports.The article summarized recent clinical research progresses in research on the alterations of lipid and carbohydrate metabolism in children with classic 21-OHD.
Key words:
Congenital adrenal hyperplasia; 21-hydroxylase deficiency; Metabolic syndrome; Cardiovascular diseases
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.
