DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for riboflavin transporter deficiency — 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 moduleRiboflavin transporter deficiency 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 riboflavin transporter deficiency 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 52 member 2 (SLC52A2) — SLC52A2 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 rbfdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8XSM · 3.01 Å · ligand RIBOFLAVIN (RBF). Experimental structure, not a prediction.
What the evidence adds up to
In a cohort of 10 children with riboflavin transporter deficiency type 2, the average delay between first symptoms and diagnosis was 27.6 months. Neurologists were the most frequently consulted clinicians, seen by 90% of patients. During the first year of illness, abnormal gait or ataxia occurred in 70%, nystagmus in 50%, and upper body muscle weakness in 40%. Optic atrophy, sleep apnoea, breath-holding spells, and dysphagia were commonly noted before diagnosis. Hearing loss was reported in only 40% of subjects before diagnosis. Mitochondrial disease was the most common initial suspected diagnosis, in 30% of cases. The authors report riboflavin responsive megaloblastic anaemia for the first time in this condition.
A separate review discusses riboflavin transporter 3 (RFVT3) as part of the mitochondrial network and its role in riboflavin homeostasis and ATP production. The review states that abnormal RFVT3 expression is closely associated with the occurrence and progression of multiple diseases, and proposes that imaging RFVT3 could serve as a biomarker for early diagnosis and therapy. No clinical data from that review are presented.
No controlled treatment trial is reported in these abstracts. The diagnostic delay of more than two years in a sample of only 10 patients means that the natural history and any effect of riboflavin supplementation remain poorly quantified. What is missing is a prospective, adequately powered natural history study with standardised outcome measures, and a randomised trial of riboflavin dosing versus placebo or standard care. Patient stratification by age at onset, specific transporter mutation, and severity of neurological involvement has not been attempted. Funding for such a trial, and for development of validated biomarkers such as the proposed RFVT3 radiotracers, has not been secured.
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 Child Neurology · 2019 · 23 citations · open access
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2
AbstractPURPOSE: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. METHODS: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to collect data on the patient's clinical journey. RESULTS: The average diagnostic delay was 27.6 months. Neurologists were the most commonly visited clinician (90%). Common symptoms during the first year of the patient's clinical journey included abnormal gait and/or ataxia (70%), nystagmus (50%), and upper body muscle weakness (40%). Prior to diagnosis, optic atrophy, sleep apnea, breath-holding spells, and dysphagia were commonly observed. Hearing loss was only reported in 40% of subjects prior to diagnosis. Riboflavin responsive megaloblastic anemia is reported for the first time. Mitochondrial disease was the most common suspected diagnosis (30%). CONCLUSION: Despite clinical variability, common early symptoms of riboflavin transporter deficiency type 2 exist that can better allow clinicians to more rapidly identify riboflavin transporter deficiency type 2.
Journal of Labelled Compounds and Radiopharmaceuticals · 2023 · 2 citations
Development of radiotracers for riboflavin transporter 3 imaging in diseases—A brief overview
AbstractRiboflavin (RF, vitamin B2) plays a key role in metabolic oxidation-reduction reactions, especially in the mitochondrial reprogramming of energy metabolism. Riboflavin transporter 3 (RFVT3) is a vital section of the mitochondrial network and involved in riboflavin homeostasis and production of adenosine triphosphate (ATP). The abnormal expression of RFVT3 is closely associated with the occurrence and progression of multiple diseases. Therefore, it is vital to understand the riboflavin internalization pathway under pathological conditions by addressing the abnormal expression of RFVT3, which could be a highly valuable biomarker for the early diagnosis and effective therapy of various diseases.
Riboflavin transporter deficiency in young adults unmasked by dietary changes
AbstractRiboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life, symptoms usually develop more gradually. We report three previously healthy young adults, who developed rapidly progressive neurological symptoms after decreasing dietary intake of meat and dairy. After a diagnostic odyssey, the diagnosis of a riboflavin transporter deficiency was made. Treatment with high dose oral riboflavin (20-40 mg/kg/day) partially reversed symptoms. This case series highlights that reduced riboflavin intake as a result of dietary changes can unmask RTD at a later age. We emphasize the importance of early recognition of this progressive and potentially lethal disease and show that timely treatment with high dose riboflavin is highly effective.
Sage Journals Data · 2020 · 0 citations · open access
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2
AbstractPurpose:To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis.Methods:Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to collect data on the patient’s clinical journey.Results:The average diagnostic delay was 27.6 months. Neurologists were the most commonly visited clinician (90%). Common symptoms during the first year of the patient’s clinical journey included abnormal gait and/or ataxia (70%), nystagmus (50%), and upper body muscle weakness (40%). Prior to diagnosis, optic atrophy, sleep apnea, breath-holding spells, and dysphagia were commonly observed. Hearing loss was only reported in 40% of subjects prior to diagnosis. Riboflavin responsive megaloblastic anemia is reported for the first time. Mitochondrial disease was the most common suspected diagnosis (30%).Conclusion:Despite clinical variability, common early symptoms of riboflavin transporter deficiency type 2 exist that can better allow clinicians to more rapidly identify riboflavin transporter deficiency type 2.
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.
