DeCure for Autosomal dominant sideroblastic anemia
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for autosomal dominant sideroblastic anemia — 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 moduleAutosomal dominant sideroblastic anemia 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 autosomal dominant sideroblastic anemia 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
heat shock protein family A (Hsp70) member 9 (HSPA9) — HSPA9 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 atpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9QIN · 2.72 Å · ligand ADENOSINE-5'-TRIPHOSPHATE (ATP). Experimental structure, not a prediction.
What the evidence adds up to
Two case reports describe congenital sideroblastic anaemia, a rare condition mostly X-linked and caused by mutations of delta-aminolevulinic acid synthase 2. One of the two cases indicated an autosomal recessive inheritance. The authors note that a significant percentage of cases respond to pyridoxine, and that early recognition can avoid long-term complications. No numbers of responders, survival, or sample sizes beyond two patients are given.
A 1980 review states that the aetiology of sideroblastic anaemia remained obscure at that time, and that repeated blood transfusion was still the fate awaiting most patients with the idiopathic form. The review lists diagnostic confusion, multiple possible causes of the same haematologic findings, and the rarity of the disorder as reasons for this lack of progress. The diagnosis requires a triad: a dimorphic population of red blood cells in the blood and erythroid hyperplasia in the marrow.
A 2009 review reiterates that sideroblastic anaemias are a heterogeneous group of inherited and acquired disorders. The most common inherited form is X-linked sideroblastic anaemia, caused by mutations in the erythroid-specific ALA synthase gene (ALAS2). The most common acquired form is refractory anaemia with ringed sideroblasts, a myelodysplastic syndrome. No treatment outcomes or response rates are reported in this review.
What is still missing is prospective data on pyridoxine response rates in genetically confirmed autosomal dominant sideroblastic anaemia, a clear distinction between inherited and acquired forms in treatment trials, and any randomised evidence for therapies beyond transfusion. The rarity of the condition continues to limit trial design and patient stratification.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Indian Journal of Pathology and Microbiology · 2009 · 3 citations · open access
Congenital sideroblastic anemia: A report of two cases
AbstractSideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe two cases of congenital sideroblastic anemia, one of them indicating an autosomal recessive inheritance, with their clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications.
Archives of Internal Medicine · 1980 · 1 citations
Sideroblastic Anemia
AbstractSideroblastic anemia was recognized as a distinct entity 20 years ago. A satisfactory working classification into hereditary, idiopathic (primary) acquired, and secondary forms soon followed the initial descriptions of this uncommon disorder, and it seemed then that useful information about the etiology and treatment would soon be available. Therefore, it is sad to report, in 1980, that the etiology remains obscure and that repeated blood transfusion is still the fate awaiting most patients with the idiopathic form of the disease. There are a number of reasons for this sorry state of affairs. First, diagnostic confusion has occurred; second, there are probably a large number of different causes of the same hematologic findings; and third, the disorder itself is rare. The diagnosis of sideroblastic anemia can only be made when an anemic patient has the following triad of hematologic abnormalities: a dimorphic population of RBCs in the blood, an erythroid hyperplasia
AbstractThe sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ringed sideroblasts in the bone marrow.1 These latter are immature red cells with iron-loaded mitochondria visualized by Prussian blue staining as a perinuclear ring of blue granules. The most common of the inherited forms is X-linked sideroblastic anemia (XLSA, OMIM 301300), which is caused by mutations in the erythroid-specific ALA synthase gene (ALAS2). The most common acquired sideroblastic anemia is a myelodysplastic syndrome (MDS) defined as refractory anemia with ringed sideroblasts (RARS).2
Biology of Blood and Marrow Transplantation · 2016 · 0 citations · open access
Reduced Toxicity Allogeneic Transplant for Congenital Sideroblastic Anemia
AbstractCongenital sideroblastic anemia (CSA) is a genetically and clinically heterogeneous disorder. Mutations in genes involved in heme biosynthesis, iron-sulfur cluster biosynthesis, and mitochondrial protein synthesis lead to mitochondrial iron overload of the erythroblasts, which then results in ineffective erythropoiesis. CSA can present as a mild disease or as a severe anemia needing lifelong transfusion. Stem cell transplant (SCT) offers curative treatment by replacing defective hematopoietic progenitor stem cells.
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.
