DeCure for Congenital dyserythropoietic anemia type 3
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital dyserythropoietic anemia type 3 — 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 moduleCongenital dyserythropoietic anemia type 3 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 congenital dyserythropoietic anemia type 3 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
Rac GTPase activating protein 1 (RACGAP1) — RACGAP1 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 af3drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5C2K · 1.42 Å · ligand ALUMINUM FLUORIDE (AF3). Experimental structure, not a prediction.
What the evidence adds up to
A 2001 case report describes a patient with congenital dyserythropoietic anaemia type 1 who presented with severe anaemia beginning before birth, leading to cardiac failure. Despite repeated transfusions and a trial of erythropoietin, the infant died from a respiratory infection at seven months of age. Bone marrow examination at autopsy showed the characteristic dyserythropoietic features of type 1, which had been less obvious on earlier aspirates. This single case suggests that erythropoietin did not alter the fatal course.
A 1992 report notes that congenital dyserythropoietic anaemia type II is usually diagnosed before age 20 but can be found in elderly patients presenting with anaemia and iron overload. No treatment or outcome data beyond the diagnostic observation are provided. A 1985 family study describes a mild anaemia with both dyserythropoiesis and ringed sideroblasts, inherited in an autosomal recessive pattern. The anaemia was characterised by microcytosis, poikilocytosis, mild haemolysis, slightly raised haemoglobin A2, and bone marrow erythroid hyperplasia. No specific therapy is discussed.
A 2018 genetic study of 53 patients from 44 families identified pathogenic variants in 21 patients. Six variants were found in CDAN1 (two previously reported, four novel) and twelve in SEC23B (seven reported, five novel). One patient carried a KLF1 variant and another an ALAS2 variant. Genomic rearrangements were found in some patients with only one SEC23B variant. The study does not report clinical outcomes, response to treatment, or survival. It concludes that new genetic technologies may help identify additional modifying genes or improve diagnostic accuracy.
No trial has tested a drug specifically for congenital dyserythropoietic anaemia type 3. The evidence consists entirely of case reports and genetic surveys. What is missing is any prospective trial, any drug shown to change haemoglobin or transfusion dependence, and any patient stratification by genotype or disease severity.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Congenital Dyserythropoietic Anemia Type 1 With Fetal Onset of Severe Anemia
AbstractWe report a patient with congenital dyserythropoietic anemia type 1 with characteristic anomalies and two novel clinicopathologic presentations: intrauterine onset of severe anemia resulting in cardiac failure and relatively mild dyserythropoietic features on bone marrow aspiration in contrast to severity of anemia. After repeated transfusions and a trial of erythropoietin administration, the patient died from respiratory infection at age 7 months. Autopsy revealed characteristic dyserythropoietic features of the bone marrow by light microscopy and electron microscopy, which confirmed a diagnosis of congenital dyserythropoietic anemia type 1.
American Journal of Clinical Pathology · 1992 · 19 citations
Congenital Dyserythropoietic Anemia Type II Diagnosed in a 69-Year-Old Patient with Iron Overload
AbstractCongenital dyserythropoietic anemia type II is a rare disorder that is often diagnosed in patients before age 20 years. Patients with this disorder, which is also called hereditary erythroblastic multinuclearity associated with a positive acidified serum lysis test, may have symptoms of iron overload. The purpose of this case report is to alert physicians to consider the diagnosis of congenital dyserythropoietic anemia type II in elderly patients who have anemia and iron overload.
European Journal Of Haematology · 2018 · 17 citations
Clinical and genetic features of congenital dyserythropoietic anemia (<scp>CDA</scp>)
AbstractINTRODUCTION: Congenital dyserythropoietic anemias (CDA) are characterized by hyporegenerative anemia with inadequate reticulocyte values, ineffective erythropoiesis, and hemolysis. Distinctive morphology of bone marrow erythroblasts and identification of causative genes allow classification into 4 types caused by variants in CDAN1, c15orf41, SEC23B, KIF23, and KLF1 genes. OBJECTIVE: Identify pathogenic variants in CDA patients. METHODS: Massive parallel sequencing with a targeted gene panel, Sanger sequencing, Comparative Genome Hybridization (CGH), and in silico predictive analysis of pathogenicity. RESULTS: Pathogenic variants were found in 21 of 53 patients studied from 44 unrelated families. Six variants were found in CDAN1: two reported, p.Arg714Trp and p.Arg725Trp and, four novel, p.Arg623Trp, p.Arg946Trp, p.Phe1125Ser and p.Ser1227Gly. Twelve variants were found in SEC23B: seven reported, p.Arg14Trp, p.Glu109Lys, p.Arg217Ter, c.835-2A>G, p.Arg535Ter, p.Arg550Ter and p.Arg718Ter and, five novel, p.Val164Leu, p.Arg190Gln, p.Gln521Ter, p.Arg546Trp, and p.Arg611Gln. The variant p.Glu325Lys in KLF1 was found in one patient and p.Tyr365Cys in ALAS2 in an other. Moreover, we identified genomic rearrangements by CGH in some SEC23B-monoallelic patients. CONCLUSIONS: New technologies for genetic studies will help to find variants in other genes, in addition to those known, that contribute to or modulate the CDA phenotype or support the correct diagnosis.
Variant congenital dyserythropoietic anaemia with ringed sideroblasts
AbstractA family is described with mild anaemia characterized by marked dyserythropoiesis and by prominent ringed sideroblasts. Inheritance is autosomal recessive. Other features include marked microcytosis, poikilocytosis, mild haemolysis, slightly increased haemoglobin A2, bone marrow erythroid hyperplasia and non-specific structural abnormalities of erythroid precursors on electron microscopy. This appears to be a previously unreported type of hereditary anaemia with both dyserythropoiesis and ringed sideroblasts. We propose the designation 'variant congenital dyserythropoietic anaemia with ringed sideroblasts'.
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.
