Clinical trials: RASopathy, open to volunteers
Melanoma, Li-Fraumeni Syndrome
Clinical Genetics Branch Eligibility Screening Survey
Background: Clinical Genetics Branch (CGB) researchers study individuals and populations at high genetic risk of cancer in order to improve our understanding of cancer and to improve cancer care.
- Conditions
- Melanoma, Li-Fraumeni Syndrome, Pulmonary Blastoma, Chordoma
- Trial name
- NCT07005297
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- National Cancer Institute (NCI)
Costello Syndrome, Noonan Syndrome
Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
Background: RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects.
- Conditions
- Costello Syndrome, Noonan Syndrome, Cardiofaciocutaneous Syndrome, Legius Syndrome
- Trial name
- NCT04888936
- Where
- 2 sites in United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
HCM, Noonan Syndrome and Other Rasopathy
Clinical Trial of a MEK Inhibitor for RASopathy-Associated Severe Infantile Hypertrophic Cardiomyopathy: Baby MERIT
This project seeks to perform a Phase 3 clinical trial to test whether an FDA-approved cancer drug called trametinib is effective in treating young infants with genetic conditions called RASopathies and a severe, life-threatening…
- Conditions
- HCM, Noonan Syndrome and Other Rasopathy, Heart Failure (Pediatric)
- Trial name
- Baby MERIT (NCT07817186)
- Testing
- Trametinib
- Volunteers
- 25 people
- Sponsor
- Carelon Research
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
RASopathies, Noonan Syndrome
National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype
RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.
- Trial name
- NCT07464821
- Where
- 14 sites in Italy
- Volunteers
- 200 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Hypertrophic Cardiomyopathy (HCM), Heart Failure
Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM)
RASopathy-associated hypertrophic cardiomyopathy (RAS-CM) is a disease with high morbidity and high mortality if presenting during infancy.
- Conditions
- Hypertrophic Cardiomyopathy (HCM), Heart Failure, RASopathy
- Trial name
- RAS-CM (NCT07344480)
- Testing
- Retrospective data collection
- Where
- Germany
- Volunteers
- 100 people
- Sponsor
- Deutsches Herzzentrum Muenchen
RASopathy
Pubertal Development in Patients with RASopathies
Retrospective, single-centre, non-profit, observational study on pubertal development in patients with RASopathies. Literature data shows that puberty can be delayed by about 2 years in patients with RASopathies and this has been…
- Trial name
- NCT06776380
- Where
- Italy
- Volunteers
- 40 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna