DeCure for Congenital amegakaryocytic thrombocytopenia 1
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital amegakaryocytic thrombocytopenia 1 — 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 amegakaryocytic thrombocytopenia 1 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 amegakaryocytic thrombocytopenia 1 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
thrombopoietin (THPO) — THPO 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 1V7M · 2.51 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Congenital amegakaryocytic thrombocytopenia 1 is an extremely rare inherited bone marrow failure syndrome. It usually presents as severe thrombocytopenia at birth due to ineffective megakaryocytopoiesis, with no characteristic physical anomalies. The isolated thrombocytopenia typically progresses to pancytopenia during the first years of life. Most cases are caused by defective expression or function of the thrombopoietin receptor due to homozygous or compound heterozygous mutations in the gene MPL. Patients have elevated serum levels of thrombopoietin despite the receptor defect. The only curative therapy to date is haematopoietic stem cell transplantation.
One report describes a newborn girl who presented with symptoms of sepsis but a negative septic profile except for thrombocytopenia. Bone marrow biopsy revealed amegakaryocytic thrombocytopenia, and she was given prednisolone. Another report describes a 35-day-old neonate with CAMT together with facial malformations and cardiac defects, noting that CAMT in association with physical anomalies is a rare entity with only limited data from single case reports. Clonal chromosome anomalies and a propensity to myeloid malignancies have been observed in CAMT patients.
The abstracts provide no controlled trial data, no survival statistics, and no response rates for any drug. The only treatment mentioned in a case report is prednisolone, with no evidence of efficacy reported. What is still missing is any prospective trial design, any patient stratification by mutation type, and any funding for systematic drug testing in this extremely rare population.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
British Journal of Haematology · 2009 · 85 citations · open access
Advances in the understanding of congenital amegakaryocytic thrombocytopenia
AbstractCongenital amegakaryocytic thrombocytopenia (MIM #604498) is an extremely rare inherited bone marrow failure syndrome, usually presenting as a severe thrombocytopenia at birth due to ineffective megakaryocytopoiesis and no characteristic physical anomalies. Usually the isolated thrombocytopenia progresses to pancytopenia during the first years of life. The only curative therapy to date is haematopoietic stem cell transplantation. Most of the cases of congenital amegakaryocytic thrombocytopenia are caused by defective expression or function of the thrombopoietin receptor due to homozygous or compound heterozygous mutations in the gene MPL. The essential roles of thrombopoietin as a lineage specific regulator of platelet production and as a regulator of haematopoietic stem cell function are reflected in the haematological defects seen in affected individuals.
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498)
AbstractCongenital amegakaryocytic thrombocytopenia (CAMT, OMIM 604498) is an autosomal recessive disorder characterized by absent or reduced number of megakaryocytes in the bone marrow (BM) since birth, elevated serum levels of thrombopoietin (TPO), and very low platelet count. Prognosis of CAMT patients
AbstractBallmaier and colleagues (page [137][1]) have identified the molecular cause of congenital amegakaryocytic thrombocytopenia (CAMT) in 9 patients: deficiency in expression or function of the thrombopoietin receptor c-mpl. Together with 2 earlier, smaller studies, this report adds CAMT to the growing
Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism
AbstractCongenital amegakaryocytic thrombocytopenia (CAMT) is an uncommon disorder, characterized by an isolated thrombocytopenia and the almost complete absence of megakaryocytes in the bone marrow. Several studies have indicated that the origin of CAMT is an intrinsic stem cell defect.[1-3][1] Recently,
AbstractCongenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL) despite high levels of serum TPO. Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the severity of the c-MPL functional defect. The primary treatment for CAMT is bone marrow transplantation. This report describes a newborn girl who presented to us with symptoms of sepsis but septic profile came negative except thrombocytopenia. Bone marrow biopsy was done for thrombocytopenia which revealed amegakaryocytic thrombocytopenia. She was given prednisolone.
Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate.
AbstractCongenital Amegakaryocytic Thrombocytopenia (CAMT) is a rare disorder of infancy characterized by isolated thrombocytopenia along with hypoplasia or aplasia of megakaryocytes in the bone marrow. It is caused by c-mpl mutation which disrupts the function of thrombopoietin (TPO) receptor. CAMT in association with physical anomalies is a rare entity with only limited data from single case reports being available. Here we present a case of 35 days neonate who had CAMT together with facial malformations and cardiac defects.
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.
