ASO Therapy for Syndromic Craniosynostosis
Official title: Nano-ink Based Antisense oligonUcleoTIde deLivery for Ultra-personaIized Treatment of Syndromic Craniosynostoses
Run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · NCT07535372 · Data updated 2026-11-12
This project tests patient-specific antisense oligonucleotides to see if they can address the molecular drivers of syndromic craniosynostosis in young children who are undergoing surgical skull remodelling.
Quick facts
| Study type | Observational |
|---|---|
| Ages | Any age to 5 Years |
| Sex | All |
| Enrollment | 12 (estimated) |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 1 site (Rome) |
| Status | Recruiting |
| Started | April 20, 2026 |
| Main results expected | April 20, 2027 |
| Study ends | April 20, 2028 |
| Registry record updated | September 8, 2026 |
| Trial ID | NCT07535372 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Children aged 0-5 years with a confirmed syndromic craniosynostosis caused by pathogenic variants in FGFR1-3, TWIST1, TCF12, or EFNB1, ERF, MSX2, or ALX4, and with cranial-suture tissue available from prior surgeries.
✕Probably not a fit
Patients whose tissue samples are unusable or who do not have the specific genetic variants may not derive a direct benefit from this approach.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational effort designs personalized antisense oligonucleotides (ASOs) targeting pathogenic variants linked to FGFR1-3, TWIST1, TCF12 and related genes in syndromic craniosynostosis. Researchers will use cranial-suture tissue from surgical waste to develop patient-specific ASOs and evaluate their potential to normalize abnormal bone formation in derived cells. The study focuses on paediatric patients aged 0-5 with confirmed genetic diagnoses and suitable tissue quality, aiming to explore a molecularly targeted approach alongside standard surgical care. No active therapeutic administration is described in this stage, but the work seeks to establish feasibility and preliminary signals before clinical translation. Safety and efficacy in humans would require further study beyond this observational design.
Why it matters
Potential benefit: If successful, patient-specific ASOs could eventually reduce abnormal suture fusion and improve outcomes beyond surgery alone.
How similar studies have gone: Prior RNA-based approaches show potential in correcting osteogenic differentiation in patient-derived cells, but clinical translation remains limited and this project explores a novel, targeted application.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Paediatric patients (0-5 years), with a confirmed genetic diagnosis of syndromic craniosynostosis involving pathogenic GoF or LoF variants in FGFR1-3, TWIST1, TCF12, EFNB1, ERF, MSX2, or ALX4. * Availability of cranial-suture tissue fragments obtained during surgical remodelling procedures and classified as surgical waste. * Signed informed consent from parents or legal guardians. Exclusion Criteria: * Patients older than 5 years. * Patients aged 0-5 years with conditions unrelated to syndromic craniosynostosis in the selected genes. * Genetic variants of uncertain significance or undetermined molecular diagnosis. * Tissue samples with insufficient quantity or inadequate quality for cell isolation or culture. * Refusal of informed consent.
Where it's running
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Cellular and Experimental Biology Unit
Rome, Italy Recruiting
Study contacts
- Principal investigator: Wanda Lattanzi — Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Study coordinator: Wanda Lattanzi, MD, PhD
- Email: wanda.lattanzi@unicatt.it
- Phone: +390630156946
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.