Multicenter study of SHANK3-related Phelan-McDermid syndrome genetic modifiers
Official title: Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13)
Run by Assistance Publique - Hôpitaux de Paris · NCT07119606 · Data updated 2026-11-12
Researchers are testing how other genes may modify the PMS clinical picture in people with SHANK3-related deletions or variants.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 3 Months to 99 Years |
| Sex | All |
| Enrollment | 650 (estimated) |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris, Ap-hp / DRCI) |
| Status | Recruiting |
| Started | September 1, 2025 |
| Main results expected | March 1, 2027 |
| Study ends | March 1, 2027 |
| Registry record updated | November 9, 2026 |
| Trial ID | NCT07119606 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals with Phelan-McDermid syndrome due to SHANK3 deletions or deleterious SHANK3 variants, including willing family members for genetic analysis.
✕Probably not a fit
Patients whose PMS features are not influenced by additional genetic modifiers may have limited direct benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This multicenter study focuses on Phelan-McDermid syndrome caused by SHANK3 alterations. It aims to identify additional genetic factors that modify the PMS phenotype, using genomic analyses in individuals and families affected by SHANK3 deletions or deleterious variants. Participants include patients diagnosed with PMS and their parents or guardians, with consent obtained as appropriate. The study analyzes how broader genetic context may influence clinical presentation beyond SHANK3 status. It builds on prior observations that similar deletions or variants can produce different phenotypes, seeking to explain this variability.
Why it matters
Potential benefit: Understanding genetic modifiers could lead to better prognosis, personalized care, and potential targets for future therapies.
How similar studies have gone: Previous research has suggested phenotypic variability in PMS is partly due to other genetic factors, supporting a modifier-focused approach.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient diagnosed with Phelan-McDermid syndrome as part of the etiological assessment of a neurodevelopmental disorder, regardless of age (and their parents, siblings, and grandparents). * For patients: identification of a deletion affecting SHANK3 or a specific, deleterious genetic variation in SHANK3. * Affiliation to a social security scheme or beneficiary. * Signature of the project consent form by the participant (if an adult) or by both legal guardians (if the participant is a minor or an adult under guardianship). Exclusion Criteria: \-
Where it's running
-
Robert Debré Hospital
Paris, Ap-hp / DRCI, France Recruiting
Study contacts
- Principal investigator: Anne-Claude TABET, MD, PhD — Assistance Publique - Hôpitaux de Paris
- Study coordinator: Anne-Claude TABET, MD, PhD
- Email: anne-claude.tabet@aphp.fr
- Phone: +33140035710
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Newborn whole-genome sequencing and genetic disease risk in pregnancy and early life
This project will collect small biological samples from pregnant families and newborns to try whole-genome sequencing and other multi-omics tests to find genetic disease risks.
-
Prenatal cfDNA Screening in Pregnancies with Diverse Genetic Risk Profiles
This study tests two cfDNA approaches from a single maternal blood sample to see if they can detect a wide range of fetal genetic conditions in pregnant people with various risk factors.
-
Natural history of type I interferonopathies in a European patient group
This project will follow people with genetically confirmed type I interferonopathies across European centers to see how the disease develops and which clinical and blood markers track disease activity.
-
Speech-generating device to help communication in childhood dementia
This project will test whether giving children with childhood dementia a speech-generating iPad app helps them communicate better than their usual care.
-
Using AI to enhance cardiology patient care
This study is testing if using AI tools can help cardiologists make better decisions when treating patients with heart conditions compared to traditional methods.
-
Genomic profiling for patients with rare and genetic diseases
This study is trying to see if using advanced genetic testing can help doctors better understand and treat rare diseases for over 2 million patients in Italy.
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.