Clinical trials: Craniofacial Defects
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people.
- Trial name
- NCT00556530
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Albert Einstein College of Medicine
22q11 Deletion Syndrome
Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome.
The purpose of the present trial is to investigate the effects of omega-3 PUFAs in individuals aged 12-26 years with 22q11DS at ultra-high risk for developing a first episode of psychosis.
- Trial name
- NCT02070211
- Testing
- omega-3 PUFAs, Standard care
- Where
- Holy See
- Volunteers
- 80 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Noonan Syndrome
French Registry of Children Treated With Norditropin® for Short Stature Associated With Noonan Syndrome
This is a non-interventional registry of children treated with Norditropin® for short stature due to Noonan Syndrome (NS). This study aims to provide data on long-term growth evolution and safety of Norditropin® as well as Health…
- Trial name
- NCT05308927
- Testing
- Norditropin
- Where
- 3 sites in France
- Volunteers
- 221 people
- Sponsor
- Novo Nordisk A/S
22q.11.2 Deletion/Duplication
Non-Invasive Chromosomal Evaluation of 22q11.2
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
- Trial name
- 22Q (NCT02541058)
- Where
- Belgium
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
Congenital Disorders
Prevalence and Clinical Spectrum of the 22q11 Deletion
The purpose of this project is to conduct population based surveillance for prenatally diagnosed congenital defects amount residents of the five counties to: improve the comprehensiveness of the Metropolitan Atlanta Congenital…
- Trial name
- NCT00267397
- Where
- United States
- Sponsor
- Children's Healthcare of Atlanta
Noonan Syndrome
Registro Nazionale Sindrome Noonan / National Registry of 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.
- Trial name
- MOMAGPNONA01 (NCT07881159)
- Where
- 35 sites in Italy
- Volunteers
- 400 people
- Sponsor
- Istituto Giannina Gaslini