DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for adult Refsum disease — 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 moduleAdult Refsum disease 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 adult refsum disease 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
phytanoyl-CoA 2-hydroxylase (PHYH) — PHYH 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 iidrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2A1X · 2.5 Å · ligand FE (II) ION (FE2). Experimental structure, not a prediction.
What the evidence adds up to
In 1985, researchers measured dihydroxyacetone phosphate acyltransferase (DHAP-AT) activity in fibroblasts from controls and patients with classical Refsum disease, infantile Refsum disease, and Zellweger syndrome. They confirmed that DHAP-AT activity is severely reduced in Zellweger syndrome fibroblasts and amniocytes. They also demonstrated a partial deficiency of DHAP-AT activity in both classical and infantile Refsum disease fibroblast cultures. The authors concluded that these diseases are probably distinct but related entities in which peroxisomal biogenesis is affected to varying degrees.
A 1995 paper described the use of cascade filtration in a patient with Refsum disease. No quantitative results, such as changes in phytanic acid levels or clinical outcomes, were reported in the abstract. The method was presented as a potential intervention, but the abstract provides no data on its efficacy.
A 2024 case report described a 55-year-old male patient with Refsum disease who presented with classical symptoms including retinitis pigmentosa, peripheral neuropathy, hearing loss, and skeletal abnormalities, along with an atypical feature of very small pupils (microcoria). Management involved dietary restriction of foods rich in phytanic acid and symptomatic treatment for neurological and sensory impairments. The report emphasised the importance of early diagnosis and multidisciplinary care but provided no quantitative outcome data.
What is still missing is any controlled trial of a drug therapy for Refsum disease. The 1985 work identified a partial enzyme deficiency but did not test a treatment. The 1995 cascade filtration report lacked efficacy data. The 2024 case report relied solely on dietary management and symptomatic care. No randomised trial, no validated biomarker for drug response, and no patient stratification strategy have been reported.
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 Inherited Metabolic Disease · 1985 · 15 citations
Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases
AbstractWe measured the activity of dihydroxyacetone phosphate acyltransferase (DHAP-AT) in fibroblasts of controls and patients with classical Refsum's disease (RD), infantile Refsum's disease (IRD) and Zellweger's syndrome (ZS). We confirmed that DHAP-AT activity is severely reduced in ZS fibroblasts and amniocytes. We also demonstrated a partial deficiency of DHAP-AT activity in RD and IRD fibroblast cultures. These diseases are probably distinct but related entities in which peroxisomal biogenesis is affected to varying degrees.
AbstractJournal Article Cascade filtration in Refsum's disease Get access J. B. Siegmund, J. B. Siegmund Institute of Clinical NephrologyHeide, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar H. Meier, H. Meier Institute of Clinical NephrologyHeide, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar I. Hoppmann, I. Hoppmann Institute of Clinical NephrologyHeide, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar H.-U. Gutsche H.-U. Gutsche Institute of Clinical NephrologyHeide, Germany Correspondence and offprint requesrs to : Dr H.-U. Gutsche, Institute of Clinical Nephrology, Hochfelder Weg 56, D-25746 Heide, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Nephrology Dialysis Transplantation, Volume 10, Issue 1, January 1995, Pages 117–119, https://doi.org/10.1093/oxfordjournals.ndt.a090825 Published: 01 January 1995 Article history Received: 16 May 1994 Accepted: 02 September 1994 Published: 01 January 1995
Journal of Clinical and Community Ophthalmology · 2024 · 0 citations · open access
An Unusual Case of Refsum Disease
AbstractRefsum disease is a rare autosomal recessive disorder characterized by the accumulation of phytanic acid in plasma and tissues due to deficiency of the enzyme phytanoyl-CoA hydroxylase that break down phytanic acid. This case report presents a 55-year-old male patient with Refsum disease exhibiting classical symptoms such as retinitis pigmentosa, peripheral neuropathy, hearing loss, and skeletal abnormalities, however he had some atypical features of very small pupil (microcoria). Management primarily involves dietary restrictions, particularly the avoidance of foods rich in phytanic acid. Additionally, symptomatic treatment aimed at managing the neurological and sensory impairments was already employed. This case highlights the importance of early diagnosis and multidisciplinary care in mitigating the progression of Refsum disease and improving the patient's quality of life.
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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