Noonan SyndromeMOMAGPNONA01NCT07881159
Registro Nazionale Sindrome Noonan / National Registry of Noonan Syndrome
An observational study of Noonan Syndrome, run by Istituto Giannina Gaslini at 35 sites in Italy.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Noonan Syndrome
- How many people
- 400 participants
- Where
- 35 sitesItaly
- Study dates
- 1 Oct 2022to 31 Dec 2027
- How long will I take part?
- 5 Years
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: People of any age and sex with genetically confirmed Noonan syndrome, followed at participating centers in Italy. The registry first enrolls people already followed at these centers (about 250), then adds new diagnoses over time (about 60 per year).
Who may be able to join
- Genetically confirmed diagnosis of Noonan syndrome
- Any age and sex
- Written informed consent to participate in the study, signed by the participant or their legally authorized representative
Who cannot join
- Informed consent not signed
Trial locations and contacts
35 sites in 1 country. Contact the study team or a site near you to ask about taking part.
35 sites in 1 country
Italy35 sites, 35 recruiting
- Recruiting
Azienda Ospedaliera Universitaria delle Marche
Ancona
Valentino Cherubini, Valentino.Cherubini@ospedaliriuniti.marche.it
- Recruiting
Ospedale Giovanni XXIII
Bari
Maria Felicia Faienza, mariafelicia.faienza@uniba.it
- Recruiting
Papa Giovanni XXIII
Bergamo
Moira Alessandra Pinotti, 0352678903, urp@asst-pg23.it
- Recruiting
S. Orsola Malpighi
Bologna
Emanuela Scarano, emanuela.scarano@aosp.bo.it
- Recruiting
Ospedale Centrale di Bolzano
Bolzano
Silvia Longhi, silvia.longhi@sabes.it
- Recruiting
Spedali Civili
Brescia
Alba Pilotta, genauxo@gmail.com
- Recruiting
Ospedale Perrino
Brindisi
Francesco Gallo, brindisipediatria@gmail.com
- Recruiting
Ospedale Microcitemico
Cagliari
Sabrina Pilia, sabrinapilia@asl8cagliari.it
- Recruiting
Bufalini
Cesena
Sara Ciccone, sara.ciccone@auslromagna.it
- Recruiting
Meyer
Florence
Stefano Stagi, stefano.stagi@meyer.it
- Recruiting
San Salvatore
L’Aquila
Giovanni Farello, gfarello@asl1abruzzo.it
- Recruiting
Ospedale Manzoni
Lecco
Laura Garini, l.garini@ospedale.lecco.it
- Recruiting
Carlo Poma
Mantua
Claudio Giacomozzi, protocollogenerale@pec.asst-mantova.it
- Recruiting
Madonna delle Grazie
Matera
Maurizio Del Vecchio, mdelvecchio75@gmail.com
- Recruiting
Policlinico
Messina
Gabriela Wasnieska Malgorzata, malgorzata.wasniewska@polime.it
- Recruiting
Ospedale dei Bambini "Vittore Buzzi"
Milan
Chiara Mameli, chiara.mameli@asst-fbf-sacco.it
- Recruiting
San Raffaele
Milan
Gabriella Pozzobon, pozzobon.gabriella@hsr.it
- Recruiting
Policlinico
Modena
Lorenzo Iughetti, lorenzo.iughetti@unimore.it
- Recruiting
San Gerardo
Monza
Alessandro Cattoni, a.cattoni1@campus.unimib.it
- Recruiting
Federico II
Naples
Maria Carolina Salerno, salerno@unina.it
- Recruiting
Luigi Vanvitelli
Naples
Anna Grandone, anna.grandone@unicampania.it
- Recruiting
Azienda Ospedaliera Di Padova
Padova
Laura Guazzarotti, endoped.aopd@aopd.veneto.it
- Recruiting
Cervello
Palermo
Piernicola Garofalo, piernicolagarofalo@alice.it
- Recruiting
Policlinico San Matteo
Pavia
Daniela Larizza, daniela.larizza@unipv.it
- Recruiting
Santa Maria della Misericordia
Perugia
Laura Penta, 075 578 2228
- Recruiting
Santa Chiara
Pisa
Silvano Bertelloni, s.bertelloni@ao-pisa.toscana.it
- Recruiting
Santa Maria degli Angeli
Pordenone
Anna Favia, pediatria@asfo.sanita.fvg.it
- Recruiting
San Maria Nuova
Reggio Emilia
Maria Elisabetta Street, MariaElisabeth.Street@ausl.re.it
- Recruiting
Bambin Gesù
Roma
Marco Cappa, marco.cappa@opbg.net
- Recruiting
Regina Margherita
Torino
Luisa De Sanctis, luisa.desanctis@unito.it
- Recruiting
Presidio Ospedaliero Santa Chiara
Trento
Roberto Franceschi, roberto.franceschi@apss.tn.it
- Recruiting
Burlo Garofolo
Trieste
Gianluca Tornese, gianluca.tornese@burlo.trieste.it
- Recruiting
Filippo Del Ponte
Varese
Manuela Deiana, urp@asst-settelaghi.it
- Recruiting
Istituto auxologico italiano-Ospedale San Giuseppe Villa Caramora
Verbania
Graziano Grugni, g.grugni@auxologico.it
- Recruiting
Azienda Ospedalieria Integrata
Verona
Franco Antoniazzi, pediatria.endocrinologia.dh@ospedaleuniverona.it
About this study
Official title: Studio Osservazionale Retrospettivo e Prospettico a Lungo Termine Sulla Sindrome di Noonan / Long-Term Retrospective and Prospective Observational Study on Noonan Syndrome
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?
Read more
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.
- Conditions
- Noonan Syndrome
- Medical subject headings
- Noonan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| People of any age and sex with Noonan syndrome confirmed by a genetic test | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Establish a national disease registry
Measured: 5 years
Describe the clinical characteristics of a large population of individuals with Noonan syndrome and the possible genotype-phenotype correlation
Measured: 5 years
Provide an online platform for healthcare professionals to report demographic and clinical information on patients with Noonan syndrome
Measured: 5 years
Secondary outcomes (3)
Evaluate growth curves and any short- and/or long-term complications in individuals with Noonan syndrome, with or without growth hormone (GH) treatment
Measured: 5 years
Draft specific recommendations for the long-term follow-up of these patients
Measured: 5 years
Facilitate future clinical trials in individuals with this condition
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 2026
- Study start1 Oct 2022
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Noonan SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 400 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07881159
- Sponsor's protocol ID
- MOMAGPNONA01 (12363)
- Acronym
- MOMAGPNONA01
- Status last verified
- Oct 2026
- First submitted
- 12 Oct 2026
- Last updated
- 19 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided