DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Kabuki syndrome — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleKabuki syndrome maps to a 3-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 kabuki syndrome 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
lysine demethylase 6A (KDM6A) — KDM6A 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 e7zdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6FUL · 1.649 Å · ligand 1-methyl-5-oxidanyl-4-oxidanylidene-pyridine-2-carboxylic acid (E7Z). Experimental structure, not a prediction.
What the evidence adds up to
Kabuki syndrome has no approved therapies. A 2025 review of animal models — mice, fish, frogs, and nematodes — states that these models replicate key mechanistic and clinical aspects of the syndrome and are used for preclinical studies, but the same review notes that refining those models is essential to improve their relevance to human disease. No drug tested in those models is named in the abstract, and no human trial results from those models are reported.
One case report from 2023 describes a 16-year-old Kabuki syndrome patient with immune thrombocytopenic purpura who was treated with the thrombopoietin agonist hetrombopag olamine tablets. Maintenance therapy and follow-up lasted 17 months. The abstract does not give platelet counts, bleeding events, or any quantitative outcome; it only states that the therapeutic effect was observed. The patient carried a novel KMT2D mutation (c.5775_5778del) not previously reported. A separate 2013 case report describes an adolescent with Kabuki syndrome, hypogammaglobulinemia, and severe chronic thrombopenia who had a novel MLL2 mutation; no treatment or outcome data are given in that abstract.
Long-term follow-up of three adults with Kabuki syndrome from 2003 shows that the facial phenotype becomes less striking with age, but short stature, obesity, relatively large head, long palpebral fissures, and mild to moderate intellectual disability persist. The individuals achieved independent daily living skills but required a sheltered living environment. A 2022 report on general anaesthesia in Kabuki syndrome warns of difficult intubation, prolonged neuromuscular blockade, and malignant hyperthermia, and stresses careful preoperative assessment and medication selection.
What is still missing: no randomised trial has been conducted for any drug in Kabuki syndrome; the hetrombopag report is a single unblinded case with no comparator; animal model data have not yet translated to a registered human trial; patient stratification by specific KMT2D or MLL2 mutation is not being used to guide treatment selection; and funding for a multi-centre trial of any candidate therapy is not mentioned in these abstracts.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics Part A · 2003 · 28 citations
Long‐term follow‐up of three individuals with Kabuki syndrome
AbstractLong-term follow-up of three individuals with Kabuki syndrome indicates their phenotype becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed.
Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations
AbstractKabuki syndrome (KS) is a rare multisystem-affecting genetic disorder, and usually accompanied with autoimmune disorders such as immune thrombocytopenic purpura (ITP). Here, we report a 16-year-old patient with Kabuki syndrome with ITP and observe the therapeutic effect of TPO agonist hetrombopag olamine tablets. The duration of maintenance therapy and follow up were both 17 months. Whole exon sequencing (WES) of the patient's peripheral blood showed c.5775_5778del (p. Leu1926LysfsTer120) heterozygous mutation in the KMT2D gene, which was not reported before.
Journal of Pediatric Hematology/Oncology · 2013 · 5 citations
Novel MLL2 Mutation in Kabuki Syndrome With Hypogammaglobulinemia and Severe Chronic Thrombopenia
AbstractBACKGROUND: Kabuki syndrome is a rare condition characterized by distinct dysmorphic features and a broad spectrum of organ anomalies. Differentiating it from other syndromes can be difficult, particularly in patients with incomplete phenotypic manifestation. Recently, MLL2 gene mutations were identified as the underlying genetic cause of Kabuki syndrome in the majority of cases. OBSERVATIONS: We report the case of an adolescent with an uncommon combination of manifestations, including hypogammaglobulinemia and severe chronic thrombopenia associated with a novel MLL2 mutation. CONCLUSIONS: This report adds to the growing knowledge on the mutational and phenotypic spectrum of Kabuki syndrome.
Expert Opinion on Drug Discovery · 2025 · 2 citations
Animal models of Kabuki syndrome and their applicability to novel drug discovery
AbstractINTRODUCTION: genes. Despite its significant disease burden, there are currently no approved therapies for KS, highlighting the need for advanced research and therapeutic development. AREAS COVERED: This review examines the use of animal models in KS research, including mice, fish, frogs, and nematodes. These models replicate key mechanistic and clinical aspects of Kabuki Syndrome, facilitating preclinical studies to demonstrate therapeutic efficacy. The literature search focused on identifying studies that utilized these models to investigate the pathophysiology of Kabuki Syndrome and evaluate potential treatments. EXPERT OPINION: Refining animal models is essential to enhance their relevance to human disease and accelerate the development of effective therapies for Kabuki Syndrome. Insights from these models are invaluable in understanding underlying molecular mechanisms and identifying therapeutic targets. Continued research and collaboration are crucial to translating these findings into clinical practice, offering hope for future treatments.
Journal of Experimental and Clinical Medicine · 2022 · 1 citations · open access
General anesthesia application with the patient who has kabuki make-up syndrome
AbstractKabuki Syndrome is disease derived from a rare genetic mutation that is particularly characterized by distinctive facial features, musculosketal malformations, mental retardation and cardiopulmonary anomalies and several pathologies. From anesthetic aspect, this syndrome may cause both cardiovascular and inspiratory problems, defects in palate and collum and also a number of difficulties in selecting medications and invasive procedures. Difficult intubation, prolonged neuromuscular blockage and malignant hyperthermia are frequently encountered problems in the patients with Kabuki Syndrome. An attentive examination of the patient in preoperative stage and appropriate medication preference is essential in order to prevent complications.
Journal of Pediatric Neurology and Neuroscience · 2020 · 1 citations · open access
Kabuki Syndrome: A Rare Genetic Multisystem Disorder in Bangladesh
AbstractKabuki Syndrome (KS) is a rare multisystem genetic disorder. Patients present with unusual facial appearance with mental retardation along with other system involvement like cardiac, renal, neuropsychiatric disorder, hypodontia and post-natal growth retardation. Fundamental characteristics are called 'Pentad of Niikawa' which includes dysmorphic face, skeletal abnormalities, dermatoglyphic abnormalities, mild to moderate mental deficit and post-natal growth retardation. Patients with KS are reported from different parts of globe.
Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations
AbstractKabuki syndrome (KS) is a rare multisystem-affecting genetic disorder, and usually accompanied with autoimmune disorders such as immune thrombocytopenic purpura (ITP). Here, we report a 16-year-old patient with Kabuki syndrome with ITP and observe the therapeutic effect of TPO agonist hetrombopag olamine tablets. The duration of maintenance therapy and follow up were both 17 months. Whole exon sequencing (WES) of the patient’s peripheral blood showed c.5775_5778del (p. Leu1926LysfsTer120) heterozygous mutation in the KMT2D gene, which was not reported before.
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.
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