DeCure for Amegakaryocytic thrombocytopenia, congenital, 2
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for amegakaryocytic thrombocytopenia, congenital, 2 — 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 moduleAmegakaryocytic thrombocytopenia, congenital, 2 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
approvedEltrombopagApproved drug
Structures already discussed alongside amegakaryocytic thrombocytopenia, congenital, 2 in the retrieved literature, rendered from public PubChem SMILES. Which drugs appear here reflects the evidence found, not a ranked prediction.
Molecular view
thrombopoietin (THPO) — THPO is one of the genes in this disease's Open Targets module — part of the target space DeCure's repurposing candidates point at. The protein backbone is drawn as a cartoon.
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
Two case reports describe acquired amegakaryocytic thrombocytopenia (AAMT) patients treated with eltrombopag plus an immunosuppressant. Patient 1 had failed steroid, IVIG and recombinant human thrombopoietin. Patient 2 had failed high-dose steroid, IVIG, rhTPO and rituximab, and progressed to aplastic anaemia within five months. Both achieved long-term remission on the combination, with no obvious side effects reported. The sample is two patients, no controls, and the authors note that no standard treatment exists for this extremely rare disorder.
A 2023 case report describes a newborn with alloimmune thrombocytopenia and neutropenia at birth. Thrombocytopenia persisted beyond 90 days, prompting bone marrow examination that showed low megakaryocyte count. Genetic testing confirmed a mutation in the thrombopoietin gene, leading to a diagnosis of congenital amegakaryocytic thrombocytopenia (CAMT). The platelet count at presentation was 18x10⁹/L. The report emphasises that the two conditions are independent and very unlikely to co-occur, and that laboratory investigation was essential for the correct diagnosis.
A 2014 case report describes a 35-day-old female neonate with CAMT accompanied by facial malformations and cardiac defects. The report states CAMT is caused by c-mpl mutation disrupting the thrombopoietin receptor, but provides no treatment outcomes or survival data for this patient.
A 1983 abstract titled "Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia" contains no usable data — the body text is entirely about a different study on end-of-life symptoms in high-grade glioma patients, apparently a database error.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Platelets · 2021 · 7 citations
Successful treatment of acquired amegakaryocytic thrombocytopenia with eltrombopag and immunosuppressant
AbstractAcquired amegakaryocytic thrombocypenia (AAMT) is an extremely rare hematologic disorder and standard treatment strategy has not been established. We described herein two cases of AAMT who were fully responded to eltrombopag and immunosuppressant. Patient 1 was refractory to steroid, IVIG and recombinant human thrombopoietin (rhTPO). Patient 2 did not respond to high dosage of steroid, IVIG, rhTPO and rituximab. Moreover, his AAMT progressed to aplastic anemia in 5 months. Both patients took eltrombopag and immunosuppressant, then they achieved long-term remission without obvious side effects. Our findings suggest that this combination can be a valuable alternative in AAMT.
Journal of Medical Genetics · 1983 · 3 citations · open access
Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia.
Abstract<b>OBJECTIVE:</b> To prospectively study symptoms and quality of life (QoL) in terminal stage high-grade glioma (HGG) patients. <b>BACKGROUND:</b> End-of-life (EoL) symptoms have not been prospectively studied in patients with HGG. We aim to understand symptom progression, to improve QoL. <b>DESIGN/METHODS: </b>Prospective single-center study assessing symptoms and QoL of HGG patients failing 3<sup>rd</sup> line therapy with bevacizumab, showing clinical and radiological progression, and with a Karnofsky Performance Status score <60. Informed consent was obtained from each patient and surrogate. A MD Anderson Symptom Inventory Brain Tumor Module (MDASI-BT) was performed upon enrollment. Patients or surrogates received bi-weekly telephone calls repeating the MDASI-BT. Calls continued until death, or respondent refusal. Symptoms were stratified by weeks prior to death (WPD). Focus was on symptoms reported as severe (8-10 out of 10 on MDASI-BT) and moderate (5-7). <b>RESULTS:</b> 25 patients and surrogates participated. Severe fatigue rose from 50[percnt] at 4-5 WPD to 100[percnt] at 1 WPD. Reported seizures were at baseline, 38[percnt] at 1 WPD. 13[percnt] reported severe seizures. Reported pain dropped from 64[percnt] to 38[percnt] at 2-3 WPD. Severe pain decreased to 0[percnt] by 2-3 WPD, moderate pain increased to 36[percnt] at 2-3 WPD. Severely impaired understanding increased from 20[percnt] at 6-7 WPD to 57[percnt] at 1 WPD. Severely impaired concentration increased from 15[percnt] at 4-5 WPD to 75[percnt] at 1 WPD. <b>CONCLUSIONS:</b> This study prospectively tracked symptoms in the EoL of HGG patients. Reported severe fatigue and impaired cognition increased throughout. Baseline reported seizures in the final week necessitate additional management. Severe pain decreased concurrently with increased moderate pain, reflecting appropriate management. Observing symptom progression over time enhances palliative management, improving QoL by targeting the most severe symptoms. It may also serve predictive value in the future regarding EoL decision making. <b>Disclosure:</b> Dr. Phillips has nothing to disclose. Dr. Walbert has nothing to disclose.
La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine · 2023 · 0 citations
Trombocitopenia e neutropenia neonatale: dal caso clinico alla diagnosi differenziale
AbstractWe report the case of a newborn with alloimmune thrombocytopenia and alloimmune neutropenia at birth. Due to the persistence of thrombocytopenia beyond 90 days from birth, further investigations were carried out which led to the identification of an underlying congenital amegakaryocytic thrombocytopenia. A baby girl was born at 37 + 1 weeks of gestation through an urgent caesarean section. Apgar Index 9/10/10. During her hospital stay in the nursery, the baby showed petechiae and widespread ecchymosis, for which she was transferred to the Neonatal Pathology Department. A blood count was performed with a finding of thrombocytopenia (platelets 18x109/L) with moderate neutropenia and normocytic anemia. The search for antibodies specificity to HLA in maternal serum was positive for an antibody against HLA-B 44 antigen. Long standing thrombocytopenia suggested the presence of an underlying disease, thus bone marrow examination was performed which showed a low number of megakaryocytes and genetic examination confirmed the mutation of the thrombopoietin gene, leading to the diagnosis of congenital amegakaryocytic thrombocytopenia. Due to the rarity of these concomitant diseases, to be considered independent and therefore with a very low probability of association, laboratory investigations have proven to be fundamental in formulating the correct clinical diagnosis.
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.
