Clinical trials: Costello Syndrome
Costello Syndrome
Pathophysiology Analysis of "Costello Syndrome" on Cellular Models
The objective is to collect skin biopsies rom patients with Costello syndrome to analyze the molecular mechanisms responsible for this syndrome caused by a mutation in the HRAS gene and the effects of this mutation on energy…
- Trial name
- COSTELLO (NCT02812511)
- Testing
- Biopsy
- Where
- France
- Volunteers
- 9 people
- Sponsor
- University Hospital, Bordeaux
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)
RASopathy, Costello Syndrome
Prevalence and Characterization of Pain in RASopathies
RASopathies are a group of syndromes caused by variants in genes belonging to the RAS/MAPK pathway. Pain is a neglected topic in RASopathies but it is frequently complained by affected individuals.
- Conditions
- RASopathy, Costello Syndrome, Cardio-Facio-Cutaneous Syndrome, Noonan Syndrome
- Trial name
- 3717 (NCT06355622)
- Testing
- Characterization of pain
- Where
- Italy
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
RASopathy, Costello Syndrome
Solid Tumors in RASopathies
RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic…
- Conditions
- RASopathy, Costello Syndrome, Cardio-Facio-Cutaneous Syndrome, Noonan Syndrome
- Trial name
- 4218 (NCT05761314)
- Testing
- Molecular characterization of solid tumor in RASopathies
- Where
- Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Neurofibromatosis 1, Noonan Syndrome
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial
Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful.
- Conditions
- Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome
- Trial name
- NCT05361811
- Testing
- Waitlist, ACT Intervention
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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)
RASopathy, Costello Syndrome
Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies
Costello syndrome (CS) and cardio-facio cutaneous syndrome (CFCS) belongs to RASopathies, a group of multisystemic disorders caused by unregulated signalling through the RAS/MAPK pathway, an intracellular signalling pathway…
- Conditions
- RASopathy, Costello Syndrome, Noonan Syndrome, Cardio-Facio-Cutaneous Syndrome
- Trial name
- 3776 (NCT06331117)
- Testing
- Diagnostic test
- Where
- Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS