Clinical trials: Noonan Syndrome
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
Joint Health
A Decentralized Clinical Study Evaluating the Effectiveness of Two Different Doses of MyCondro™ on Physical Mobility and Joint Health
This study evaluates the effect of two different doses of a consumer-grade product, MyCondro™, on individuals experiencing mobility issues related to knee osteoarthritis.
- Trial name
- NCT07493239
- Testing
- MyCondro 300mg, MyCondro 600mg
- Where
- United States
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Lesaffre International
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)
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)
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Noonan Syndrome, LEOPARD Syndrome
Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes
Noonan and LEOPARD syndromes share, with variable severity, different clinical traits, notably craniofacial manifestations, cardiopathies, short stature, and juvenile cancers.
- Trial name
- NOLEO (NCT02486731)
- Where
- France
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
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
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