Clinical Research Directory

Registro Nazionale Sindrome Noonan / National Registry of Noonan Syndrome

Sponsor: Istituto Giannina Gaslini

Summary

This study will create a national registry (a secure online database) of people with Noonan syndrome in Italy. Noonan syndrome is a genetic condition. It can affect growth, the heart, and other parts of the body. It is rare, so doctors have limited information about how it develops over time. WHY IS THIS STUDY BEING DONE? The researchers want to learn more about how Noonan syndrome affects people. They will look at: Signs and symptoms of the condition How the specific gene change relates to a person's signs and symptoms How children and adults grow over time Health problems that may appear in the short or long term Growth hormone (GH) treatment: how well it works and how safe it is The researchers will use this information to write advice for long-term care and follow-up. The registry may also make it easier to start future clinical trials for people with Noonan syndrome. WHO CAN TAKE PART? People of any age and sex People whose Noonan syndrome has been confirmed by a genetic test People who agree to take part. Adults sign a consent form themselves. For children, and for people who cannot consent, a parent or legal representative signs. People who do not sign the consent form cannot be included. WHAT WILL HAPPEN? Doctors at the participating centers will enter health information into a secure online platform. The information includes personal details such as age and sex, health history, genetic test results, and treatments. The doctors will first enter information for people they already follow. Later they will add new diagnoses and update each person's information as time goes on. Doctors will also enter the results of the first heart check. They will add the results of follow-up heart checks, about every 2 years, when available. The database is stored at the Gaslini Institute in Genoa, Italy. The study leaders are responsible for it. About 250 people will join at first. About 60 more will join each year, for about 400 people over 5 years. WHAT ELSE SHOULD I KNOW? Taking part is voluntary. This study does not test a new medicine or treatment. Doctors record the care you already receive. People in the registry will get news about new diagnosis and care options. They will also be invited to join clinical trials. The study will last 5 years. It may be extended.

Official title: Studio Osservazionale Retrospettivo e Prospettico a Lungo Termine Sulla Sindrome di Noonan / Long-Term Retrospective and Prospective Observational Study on Noonan Syndrome

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