DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for vitamin D-dependent rickets, type 1A — 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 moduleVitamin D-dependent rickets, type 1A 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 vitamin d-dependent rickets, type 1a 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.
What the evidence adds up to
Vitamin D-dependent rickets type 1A is a genetic disorder in which patients cannot maintain adequate concentrations of active vitamin D and require lifelong specialised vitamin D replacement. A 2020 review summarises the molecular basis of the three recognised forms of the condition and current management protocols, but provides no new trial data.
Two 2014 papers address treatment, but neither concerns type 1A. One randomised trial of 61 children aged 0.5–5 years with nutritional rickets compared a single intramuscular dose of 600 000 IU vitamin D against 60 000 IU orally once weekly for 10 weeks. At 12 weeks, no difference in biochemical or radiological parameters was found between the two regimens. Serum 25-hydroxyvitamin D above 100 ng/mL occurred in two children in the oral group and one in the intramuscular group; no child developed hypercalcaemia or hypercalciuria. The other 2014 report describes a 25-month-old girl with type II vitamin D-dependent rickets, not type 1A. She presented with bone deformity, bone pain, alopecia and walking difficulty. Laboratory findings showed low calcium (1.20 mmol/L), normal phosphate (1.30 mmol/L), high alkaline phosphatase (852 IU/L), high parathyroid hormone (9.21 pmol/L), normal 25-hydroxyvitamin D, and high 1,25-dihydroxyvitamin D (185 μmol/L). After treatment with calcium and calcitriol, her clinical signs, laboratory values and radiographic bone changes resolved. A 2010 case report of a 7-year-old boy with type II rickets identified a novel homozygous missense mutation (C84R) in the DNA-binding domain of the vitamin D receptor gene.
No abstract provides efficacy data specific to vitamin D-dependent rickets type 1A. The randomised trial tested nutritional rickets only. The case reports describe type II disease, which is a different genetic defect. What is missing is any controlled trial of calcitriol or vitamin D analogues in patients with genetically confirmed type 1A, along with standardised outcome measures and long-term safety data.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Frontiers in Pediatrics · 2020 · 93 citations · open access
Diagnosis and Management of Vitamin D Dependent Rickets
AbstractThe term "vitamin D dependent rickets" describes a group of genetic disorders that are characterized by early-onset rickets due to the inability to maintain adequate concentrations of active forms of vitamin D or a failure to respond fully to activated vitamin D. Although the term is now admittedly a pathophysiological misnomer, there remains clinical relevance for its continued use, as patients have a lifelong "dependency" on administration of specialized regimens of vitamin D replacement. This review provides an update on the molecular bases for the three forms of vitamin D dependent rickets, and summarizes current protocols for management of affected subjects.
Journal of Tropical Pediatrics · 2014 · 43 citations · open access
A Randomized Controlled Trial on Safety and Efficacy of Single Intramuscular versus Staggered Oral Dose of 600 000IU Vitamin D in Treatment of Nutritional Rickets
AbstractOBJECTIVE: Comparison of efficacy and safety of two different regimens of vitamin D-600 000 IU as a single intramuscular dose, and 60 000IU orally once a week for 10 weeks-in treatment of nutritional rickets. METHODS: Children with nutritional rickets (age: 0.5-5 years, n = 61) were randomized to receive either 60 000IU vitamin D orally once a week for 10 weeks or 600 000IU single intramuscular injection. Serum calcium, phosphate, alkaline phosphatase, urinary calcium/creatinine ratio, serum 25 hydroxy vitamin D and radiological score were compared at 12-week follow-up. RESULTS: No difference was found in efficacy of the two regimens on comparing biochemical and radiological parameters. Serum 25 hydroxy vitamin D >100 ng/ml was found in two children in the oral group and one child in the intramuscular group. No child developed hypercalcemia or hypercalciuria after starting treatment. CONCLUSION: Staggered oral and one-time intramuscular administrations of 600 000IU vitamin D are equally effective and safe in treatment of nutritional rickets.
Vitamin D - Dependent Rickets, Type II Case Report
AbstractAIM: The aim of this work the report of one case with vitamin D-dependent rickets, type II. METHODS: Diagnosis has been established based on anamnesis, physical examination, laboratory findings and radiological examination. RESULTS: A female child (age 25 months) has been hospitalized due to bone deformity, bone pain, alopecia and walking difficulties. The laboratory findings have revealed that the calcium values was low (1.20 mmol/L), phosphates in the reference value (1.30 mmol/L) the alkaline phosphatase value was quite high (852 IU/L), high value of parathyroid hormone (9.21 pmol/L), normal value of 25- hydroxyvitamin D, whereas the values of 1,25-dihydroxyvitamin D was high (185 μmol/L). Radiographic changes were evident and typical in the distal metaphysis of radius and ulna as well as in the bones of lower limbs (distal metaphysis of femur and proximal metaphysis of tibia and fibula). After treatment with calcium and calcitriol, the above mentioned clinical manifestations, laboratory test values and the radiographic changes in bones withdrew. CONCLUSIONS: Vitamin D-dependent rickets, type II is a rare genetic recessive disease, and its treatment includes a constant use of calcium and calcitriol.
A Novel Missense Mutation (C84R) in a Patient with Type II Vitamin D-dependent Rickets
AbstractA 7-year-old boy with severe rickets that by clinical analysis was diagnosed as affected by type II vitamin D-dependent rickets, was evaluated for mutations in the vitamin D receptor gene (VDR). The molecular analysis showed a homozygous state for a novel missense mutation (C84R) in a highly conserved nucleotide in the second Zn finger of the DNA binding domain.
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.
