DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Pearson syndrome — 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 modulePearson syndrome 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 pearson 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
acyl-CoA dehydrogenase very long chain (ACADVL) — ACADVL 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 faddrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7S7G · 1.34 Å · ligand FLAVIN-ADENINE DINUCLEOTIDE (FAD). Experimental structure, not a prediction.
What the evidence adds up to
A 1992 case report describes an 8-year-old boy with Pearson syndrome who showed typical haematological symptoms in early infancy. Anaemia was noted from birth, with haemoglobin falling to 80 g/L at 1 month and 66 g/L at 5 months, accompanied by pancytopenia. Bone marrow showed marked vacuolisation of myeloid precursor cells and erythroblasts. Nine transfusions of packed erythrocytes were needed over 16 months to stabilise haemoglobin. Later in his course, increased CSF protein, ptosis and retinitis pigmentosa pointed to Kearns Sayre syndrome, another mtDNA deletion disorder. Analysis of leukocyte mtDNA revealed a 5.5-kb deletion similar to that found in at least five other patients with Pearson syndrome.
A 2014 report presents a 2-year-old girl with Pearson syndrome who suffered a severe gastrostomy site infection during a period of neutropenia and was successfully treated with granulocyte colony stimulating factor (GCSF). The authors discuss the risks of PEG tube placement during neutropenia and the role of GCSF treatment in Pearson syndrome patients. No controlled data on GCSF efficacy in this population are provided.
A 2018 paper states that detection of sideroblastic anaemia in a newborn may suggest developing Pearson syndrome, but that the diagnosis is difficult to sustain or even impossible at that age. In their patient, diagnosis was only supported at 5 months. The paper notes that prognosis is severe and death occurs in the first 3 years of life. No new treatments or survival data beyond this natural history are reported.
What is still missing is any controlled trial of any drug for Pearson syndrome, any systematic data on GCSF safety or survival benefit beyond single case reports, and any validated method for early diagnosis or patient stratification by deletion type or tissue distribution.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Inherited Metabolic Disease · 1992 · 22 citations · open access
Mitochondrial DNA deletion in an 8‐year‐old boy with pearson syndrome
AbstractPearson syndrome (PS) (McKusick 260560) is an often fatal disease of early childhood.We describe an 8-year-old boy with PS, who showed the typical haematological symptoms in early infancy.During his later course, increased CSF protein, ptosis and retinitis pigmentosa pointed to the Kearns Sayre syndrome, another mtDNA deletion disorder.Analysis of leukocyte mtDNA revealed a 5.5-kb mtDNA deletion similar to that found in at least five other patients with PS (R6tig et al 1990). CASE REPORTG.P. was born in 1983 as the fifth child after normal pregnancy.The unrelated parents and four siblings are healthy.Birth weight was 3100g, birth length 50cm with normal neonatal adaptation.Anaemia (haemoglobin 138 g/L) was noted from birth.At age 1 month, haemoglobin (Hb) was 80 g/L.At 5 months, Hb was 66 g/L, reticulocytes 1.9%, haematocrit (Hct) 0.22, MCV 118 fl, granulocytes 0.79 x 109/L and thrombocytes 120 x 109/L.Substitution of iron was ineffective.Clinical evaluation at 6 months gave no reason for the patient's pancytopenia.Blood values were as follows: Hb 56g/L, erythrocytes 1.7 • 1012/L, Hct 0.16, MCV 94 fl, reticulocytes 2.2%, Hb Fe 17%, serum-Fe 23.7#mol/L, ferritin 123/~g/L, total leukocytes 4.6 x 109/L, granulocytes 0.37 x 109/L, thrombocytes 102 x 109/L, vitamin B12 514ng/L and folic acid > 24/~g/L.Coombs was negative, C-reactive protein < 3 mg/L.Bone marrow showed a marked vacuolization of myeloid precursor cells and erythroblasts.Transaminases were normal and serum antibodies for connatal infections (TORCH) and antinuclear antibodies were negative.Blood pH was 7.43, base excess -2 mmol/L, urine pH 6.4, with slight hyperaminoaciduria, especially increased alanine.Urinary orotic acid was normal and lactate in urine 0.13 mmol/mol creatinine.Sonography of the abdomen was normal.Nine transfusions of packed erythrocytes were necessary to stabilize haemoglobin during the next 16 months.During this period pretransfusional Hb-values were 49-79g/L, granulocytes 0.18 1.01 • 109/L and thrombocytes 59-110 x 109/L; erythrocytes were macrocytic, MCV 93-100fl.
Granulocyte Colony Stimulating Factor for Treatment of Neutropenia-associated Infection in Pearson Syndrome
AbstractIntroduction Pearson syndrome (PS; i. e. Pearson marrow–pancreas syndrome, OMIM #557000) is a rare mitochondrial disorder characterized by bone marrow failure, exocrine pancreatic dysfunction, hepatic failure, renal tubulopathy and lactic acidemia. It is caused by sporadic deletions or duplications within the mitochondrial DNA (mtDNA). Its phenotype at onset is variable and may change with time as it depends on tissue distribution and relative amounts of abnormal mtDNA. Endoscopically placed gastrostomy (PEG) tubes are essential in some patients with PS for the treatment of failure to thrive in order to achieve normal growth and weight gain (Seneca S et al., Clin Genet 1997; 51: 338–342). We present the case of a 2-year-old girl, who suffered severe gastrostomy site infection during a period of neutropenia and was successfully treated with granulocyte colony stimulating factor (GCSF). We discuss the risks of PEG tube placement during neutropenia and the role of GCSF treatment in PS patients.
Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing
AbstractBACKGROUND: The detection of sideroblastic anemia in a newborn may suggest developing Pearson syndrome. The prognosis of these patients is severe and death occurs in the first 3 years of life, so it is important to find new ways of diagnosis. Case Presentation: In the case of our patient the diagnosis was supported only at the age of 5 months, highlighting the difficulties of diagnosis at this age. CONCLUSIONS: The diagnosis of Pearson syndrome with neonatal onset is difficult to sustain or even impossible at that age. This diagnosis can be confirmed and supported during disease progression.
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.
