DeCure for Anemia, congenital dyserythropoietic, type IVb
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for anemia, congenital dyserythropoietic, type IVb — 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 moduleAnemia, congenital dyserythropoietic, type IVb 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 anemia, congenital dyserythropoietic, type ivb 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
Of 42 patients with congenital dyserythropoietic anaemia type II, all carried mutations in the SEC23B gene. Twenty-two distinct mutations were found, seven of them novel. Patients with one missense and one nonsense mutation tended to have more severe disease — lower reticulocyte count, higher serum ferritin, and in some cases greater transfusion need — than patients with two missense mutations. No patient was homozygous or compound heterozygous for two nonsense mutations, suggesting that genotype is lethal. Overlap between the two categories was noted, so the genotype-phenotype correlation is not absolute.
A single case report from 2017 describes the fifth known patient with congenital dyserythropoietic anaemia type IV, identified by genetic testing after the anaemia could not be classified by morphology alone. No treatment outcome or survival data are given for that patient. An earlier series from Malaysia reported three children with congenital dyserythropoietic anaemia, two of them siblings. All three became transfusion-dependent before four months of age. One child was successfully treated with bone marrow transplantation; the abstract does not state what happened to the other two.
A 30-year follow-up of a single case of type I dyserythropoietic anaemia reports that multiple drug therapies and splenectomy were not helpful. The abstract does not name any drug tried. The family history was non-contributory. No controlled trial, no randomised comparison, and no drug-repurposing evidence exists for any subtype of congenital dyserythropoietic anaemia in these abstracts. What is missing is any prospective trial design, any patient stratification beyond the crude missense/nonsense split, and any funding for a treatment study in this ultrarare disease.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Haematologica · 2009 · 62 citations · open access
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship
AbstractBACKGROUND: The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene. Here we established the molecular basis of 42 cases of congenital dyserythropoietic anemia type II and attempted to define a genotype-phenotype relationship. DESIGN AND METHODS: SEC23B gene sequencing analysis was performed to assess the diversity and incidence of each mutation in 42 patients with congenital dyserythropoietic anemia type II (25 described exclusively in this work), from the Italian and the French Registries, and the relationship of these mutations with the clinical presentation. To this purpose, we divided the patients into two groups: (i) patients with two missense mutations and (ii) patients with one nonsense and one missense mutation. RESULTS: We found 22 mutations of uneven frequency, including seven novel mutations. Compound heterozygosity for a missense and a nonsense mutation tended to produce a more severe clinical presentation, a lower reticulocyte count, a higher serum ferritin level, and, in some cases, more pronounced transfusion needs, than homozygosity or compound heterozygosity for two missense mutations. Homozygosity or compound heterozygosity for two nonsense mutations was never found. CONCLUSIONS: This study allowed us to determine the most frequent mutations in patients with congenital dyserythropoietic anemia type II. Correlations between the mutations and various biological parameters suggested that the association of one missense mutation and one nonsense mutation was significantly more deleterious that the association of two missense mutations. However, there was an overlap between the two categories.
Clinical Case Reports · 2017 · 30 citations · open access
A case of congenital dyserythropoietic anemia type IV
AbstractCongenital dyserythropoietic anemias (CDAs) are displayed by ineffective erythropoiesis. The wide variety of phenotypes observed in CDA patients makes differential diagnosis difficult; identification of the genetic variants is crucial in clinical management. We report the fifth case of a patient with unclassified CDAs, after genetic study, with CDA type IV.
Journal of Paediatrics and Child Health · 1996 · 17 citations
Congenital dyserythropoietic anaemia: Report of three cases
AbstractBetween January 1985 and June 1992, the Paediatric Department of Hospital Universiti Sains Malaysia has diagnosed congenital dyserythropoietic anaemia in three children, two of whom were siblings. The age of onset ranged from 1 to 3 years. All of them became transfusion-dependent before the age of 4 months. One of them was successfully treated with bone marrow transplantation.
American Journal of Clinical Pathology · 1980 · 15 citations
Type I Dyserythropoietic Anemia: A 30-year Follow-ups
AbstractDyserythropoietic anemias are extremely rare disorders which often are misdiagnosed as megaloblastic anemia, DiGuglielmo's syndrome, refractory sideroblastic anemia, paroxysmal nocturnal hemoglobinuria, or other hemolytic anemias. Dyserythropoietic anemia is now subclassified into four types, designated Types I through IV, depending upon light and ultrastructural morphology, erythrocyte immunology, and the course of the disease. This report details the findings in a case of Type I dyserythropoietic anemia that represented a puzzling case of anemia for over 30 years. Many modes of drug therapy, as well as splenectomy, were not helpful. Interestingly, the family history was non-contributory. A brief review of the literature dealing with dyserythropoietic anemia is included.
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.
