Finding genetic modifiers in Phelan-McDermid syndrome
Part of Genetic & congenital clinical trials.
This study looks at families with Phelan-McDermid syndrome, a condition linked to changes in the SHANK3 gene. It aims to find other genes that might influence how the syndrome affects a person, by collecting genetic information from patients and their family members.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child have been diagnosed with Phelan-McDermid syndrome as part of a check for developmental delays.
- A genetic test has found either a missing piece of the SHANK3 gene or a harmful change in it.
- Anyone of any age can take part.
- Your parents, siblings, and grandparents are also invited to join the study.
- If you are an adult, you must sign a consent form. If your child is taking part, both legal guardians must sign.
- You must be covered by a social security or health insurance plan.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study is for people with a neuromuscular disease or epilepsy whose genetic testing hasn't found a clear answer. It uses advanced techniques to look at parts of the DNA that don't code for proteins, to find hidden causes and help guide future treatments.
This study follows people with STXBP1 or SYNGAP1 gene changes over time to learn more about how these conditions affect the body and mind. It does not test a treatment but helps researchers understand the natural course of the disorder.
This study uses advanced DNA analysis to understand confusing genetic test results in people with brain or nerve diseases. It aims to improve diagnosis by reclassifying uncertain genetic findings.
This trial tests a new medicine, NNZ-2591, to see if it helps children with Phelan-McDermid syndrome. It is for children aged 3 to 12 who have a specific genetic change (SHANK3) and weigh at least 10 kg.
This trial tests a gene therapy called JAG201 for children with a SHANK3 mutation or 22q13.3 deletion, which causes Phelan-McDermid syndrome. The goal is to see if it can help with development and daily function.
This study follows children who completed the RB001 gene therapy trial for Phelan-McDermid syndrome (caused by changes in the SHANK3 gene) to monitor their health and progress over a longer period of time.
Hear when a new Genetic Disease trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.