DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for CEDNIK syndrome — 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 moduleCEDNIK syndrome 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 cednik 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
synaptosome associated protein 29 (SNAP29) — SNAP29 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 7BV6 · 3.05 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
CEDNIK syndrome is an autosomal recessive neurocutaneous disorder caused by biallelic loss-of-function mutations in the SNAP29 gene on chromosome 22q11.2. As of 2021, 19 patients from 10 unrelated families had been reported; a 2021 cohort added 5 patients with homozygous predicted loss-of-function variants and one with compound heterozygous variants (a frameshift variant and a 370 kb deletion on 22q11.2). An Iranian case report from 2022 stated that only 14 cases had been documented globally at that time. All patients in the 2021 cohort exhibited developmental delay or intellectual disability, ichthyosis or palmoplantar keratoderma, and hypotonia. Four of six had hypomyelinated white matter on MRI, four of six had strabismus, and two of six had early puberty — features previously reported rarely. Other variably present phenotypes included dysmorphic features, feeding difficulties, and recurrent respiratory infections. The 2021 authors proposed renaming the syndrome SNAP29-related disorder because the skin phenotype, cerebral dysgenesis, and neuropathy show reduced penetrance.
A 2024 case report described a four-month-old male with CEDNIK syndrome who had a history of pyloric stenosis status post pyloromyotomy, failure to thrive, gastroesophageal reflux disease, profound hypotonia, and delayed developmental milestones. The authors noted that idiopathic pyloric stenosis further contributed to his failure to thrive, and they emphasised that preventing failure to thrive is a commonly reported issue in these patients. A 2025 case report described a patient with CEDNIK syndrome who presented with supraventricular tachycardia and a tethered spinal cord, both novel findings not previously documented in association with the syndrome. That report characterised CEDNIK as a progressive neurodegenerative condition with a broad spectrum of manifestations including facial dysmorphisms, microcephaly, severe developmental delay, hypotonia, ichthyosis, and peripheral neuropathy.
The total number of published cases remains very small — fewer than 25 individuals across all reports. Available research, management guidelines, and prognosis are not well established. No clinical trials, no quantitative survival or response rate data, and no tested treatments appear in the literature. What is missing is any systematic effort to collect natural history data across centres, any preclinical work on SNAP29 restoration or bypass, and any funding for a prospective registry or trial. Patient stratification by genotype or specific phenotypic features (for example, presence of cardiac arrhythmia or tethered cord) has not been attempted.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neurology Genetics · 2021 · 14 citations · open access
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
Abstract<h3>Objective</h3> To report 6 new patients with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome. <h3>Methods</h3> Clinical exome or targeted sequencing were performed to elucidate the molecular genetic cause in patients with neurocognitive abnormalities and brain imaging findings. <h3>Results</h3> CEDNIK syndrome is a rare genetic condition caused by biallelic pathogenic loss-of-function variants in synaptosomal-associated protein 29 (<i>SNAP29</i>), which encodes a vesicular membrane fusion protein. Clinical manifestations include significant developmental delay/intellectual disability (DD/ID), brain abnormalities, failure to thrive, and skin abnormalities. To date, 19 patients from 10 unrelated families with CEDNIK syndrome have been reported. We report 5 additional patients with homozygous predicted loss-of-function variants in <i>SNAP29</i> and one with compound heterozygous variants: a frameshift <i>SNAP29</i> variant and a 370 kb deletion on 22q11.2. All patients exhibit DD/ID, ichthyosis and/or palmoplantar keratoderma, and hypotonia. Four of 6 subjects had hypomyelinated white matter on MRI, 2 of 6 had early puberty, and 4 of 6 had strabismus, which were previously rarely reported. Other phenotypes were variably present, including dysmorphic features, feeding difficulties, and recurrent respiratory infections. The cohort includes 2 siblings with a c.2T>C variant who have a relatively milder phenotype, a patient with the most C-terminal variant yet described (c.622G>T), and 3 patients with previously described variants (c.354dupG, c.487dupA). <h3>Conclusions</h3> This cohort of 6 additional patients expands the genotypic and phenotypic spectrum of CEDNIK syndrome, highlighting previously under-recognized features such as hypomyelination, seizures, and early puberty. Owing to reduced penetrance of the skin phenotype, cerebral dysgenesis, and neuropathy, we propose renaming this syndrome <i>SNAP29</i>-related disorder.
CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene
AbstractCEDNIK (CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuroichthyotic syndrome characterized by a constellation of clinical features including severe developmental retardation, microcephaly, and facial dysmorphism. Here, we report the first case of CEDNIK syndrome from India presenting with characteristic clinical features and harboring a novel mutation of SNAP29 gene.
Pyloric Stenosis in a Patient with CEDNIK Syndrome
AbstractWe present a rare neurocutaneous genetic disorder where patients develop a combination of cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma, commonly known as CEDNIK syndrome. It is an autosomal recessive inheritance involving the SNAP29 protein, mapped to the 22q11.2 gene. Phenotypic variation is seen with this disease, with clinical manifestation of developmental milestone delays ranging in severity. With only a handful of documented cases, available research, management of the syndrome, and prognosis are not well established. As CEDNIK syndrome has systemic implications, care coordination between specialists is essential in improving patient outcomes. Particularly important is preventing patients from meeting the criteria of failure to thrive, a commonly reported issue. In this case, we present a four-month-old male with a past medical history of pyloric stenosis status/post pyloromyotomy who has failure to thrive, gastroesophageal reflux disease, profound hypotonia, and delayed progression of developmental milestones. Additionally, the case is complicated by idiopathic pyloric stenosis, further contributing to the patient's failure to thrive. We aim to discuss the pathophysiology of this syndrome, explore the timeline of disease progression, as well as compare our case to the current literature.
CEDNIK Syndrome, a Rare Neuro-Cutaneous Disorder in an Iranian Patient: Case Report and Review of Specific Neuro-Ichthyotic Syndromes
AbstractCerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome is an autosomal recessive neuro-cutaneous disorder characterized by a collection of clinical manifestations, including microcephaly, cerebral dysgenesis, palmoplantar keratoderma, facial dysmorphism, and ichthyosis. The etiology of this condition has been proved to be a homozygous mutation in the SNAP29 gene, which has an essential role in dermatological and neurological manifestations of this syndrome. In this report, we present the first documented Iranian patient with CEDNIK syndrome. So far, only 14 cases of this condition have been reported globally.
Expanded Phenotypic Spectrum of Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome: A Rare Case Featuring Supraventricular Tachycardia and Tethered Spinal Cord
AbstractCerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome is a rare, autosomal recessive neurocutaneous disorder. It represents a progressive neurodegenerative condition caused by mutations in the synaptosome-associated protein 29 (SNAP29) gene, which encodes a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. This protein plays a critical role in intracellular membrane fusion and protein trafficking. Mutations in SNAP29 disrupt normal cellular processes, resulting in a broad spectrum of clinical manifestations, including facial dysmorphisms, microcephaly, severe developmental delay, hypotonia, ichthyosis, and peripheral neuropathy. In this report, we describe a rare case of CEDNIK syndrome featuring novel clinical findings, supraventricular tachycardia (SVT) and a tethered spinal cord, both of which have not been previously documented in association with this syndrome. These observations contribute to the expanding phenotypic spectrum of CEDNIK syndrome.
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.
