Clinical trials: Noonan Syndrome
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
Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome
The trial will investigate the treatment of growth failure in children with Noonan syndrome. Abnormalities in the growth hormone (GH) - insulin-like growth factor-I (IGF-I) axis resulting in low IGF-I levels have been suggested…
- Trial name
- NCT00351221
- Testing
- rhIGF-1/rhIGFBP-3
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Insmed Incorporated
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
Short Stature
Vosoritide for Selected Genetic Causes of Short Stature
Short stature can be caused by a number of genetic etiologies, many of which directly affect the growth plate. The FGFR3/CNP pathway is central to growth of the chondrocyte.
- Trial name
- NCT04219007
- Testing
- Vosoritide
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- Andrew Dauber
SGA, Turner Syndrome, Noonan Syndrome, ISS
A Research Study to Compare Somapacitan Once a Week With Norditropin® Once a Day in Children Who Need Help to Grow
The study compares two medicines for treatment of children born small and who stay small, or with Turner Syndrome, Noonan Syndrome, or idiopathic short stature.
- Trial name
- REAL 8 (NCT05330325)
- Testing
- Somapacitan, Norditropin®
- Where
- 199 sites in United States, Austria and 31 more
- Volunteers
- 412 people
- Sponsor
- Novo Nordisk A/S
Genetic Disorder, Noonan Syndrome
Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome)
The purpose of this study is to collect information about safety and effectiveness for long term use of Norditropin®. Participants will attend the medical institution according to usual practice and receive medical care, as…
- Trial name
- NCT03435627
- Testing
- Somatropin
- Where
- 22 sites in Japan
- Volunteers
- 71 people
- Sponsor
- Novo Nordisk A/S
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
Noonan Syndrome
A Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment
The purpose of this study in children with Noonan syndrome is to evaluate the effect of 3 doses of vosoritide on growth as measured by AGV after 6 months of treatment.
- Trial name
- NCT06668805
- Testing
- Vosoritide Injection
- Where
- 38 sites in United States, Australia and 5 more
- Volunteers
- 30 people
- Sponsor
- BioMarin Pharmaceutical
Noonan Syndrome
Neuroradiological Features of Noonan Syndrome and Genotype-Phenotype Correlations
Retrospective and prospective collection of brain and spinal MRI and MR angiography images from patients of all ages with a genetically confirmed diagnosis of Noonan syndrome.
- Trial name
- NCT07881081
- Testing
- Brain MRI and MR angiography (MRA)
- Where
- 10 sites in Italy
- Volunteers
- 60 people
- Sponsor
- Istituto Giannina Gaslini
Low-grade Glioma, Rapidly Accelerated Fibrosarcoma (RAF) Altered Glioma
DAY101 vs. Standard of Care Chemotherapy in Pediatric Participants With Low-Grade Glioma Requiring First-Line Systemic Therapy (LOGGIC/FIREFLY-2)
This is a 2-arm, randomized, open-label, multicenter, global, Phase 3 trial to evaluate the efficacy, safety, and tolerability of tovorafenib monotherapy versus standard of care (SoC) chemotherapy in participants with pediatric…
- Conditions
- Low-grade Glioma, Rapidly Accelerated Fibrosarcoma (RAF) Altered Glioma, Pediatric Low-grade Glioma
- Trial name
- NCT05566795
- Testing
- Tovorafenib, Chemotherapeutic Agent
- Where
- 138 sites in United States, Australia and 28 more
- Volunteers
- 418 people
- Sponsor
- Day One Biopharmaceuticals, Inc.
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
Noonan Syndrome
Link Between Abnormal Bleeding and Coagulation Disorders in Noonan Syndromes
Noonan syndrome is a relatively rare genetic disorder, affecting around 1 in every 1,000 to 2,500 children born. Patients often have a tendency to bleed more easily, particularly from the skin or mucocutaneous tissue (such as…
- Trial name
- PlatNoon (NCT07259135)
- Testing
- Reuse of routine clinical and biological data
- Where
- France
- Volunteers
- 100 people
- Sponsor
- University Hospital, Bordeaux
Noonan Syndrome
Joint and Hematologic Disorders of Noonan Syndrome: French Descriptive Cross-sectional Study
Noonan's syndrome is a rare genetic disease, estimated to be between 1: 1000 to 1: 2500 and characterized by cardiothoracic malformations, sometimes mental retardation, but also by hematologic abnormalities and joint involvement.
- Trial name
- NOORHA (NCT06550635)
- Where
- 4 sites in France
- Volunteers
- 71 people
- Sponsor
- University Hospital, Brest
Growth Hormone Deficiency
Use of miRNAs in Growth Hormone Deficiency (GHD)
This study aims at improving knowledge about the diagnosis of growth hormone deficiency (GHD) and treatment with growth hormone (GH), with the goal of providing information on the presence of new biomarkers, such as miRNAs, for…
- Trial name
- GH-miRNA2 (NCT06455956)
- Where
- Italy
- Volunteers
- 400 people
- Sponsor
- University of Parma
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
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
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
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)
SGA, Turner Syndrome
A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9
The purpose of this study is to find out if somapacitan is safe and how well somapacitan works in children either born small for gestational age or with Turner syndrome, Noonan syndrome or idiopathic short stature.
- Conditions
- SGA, Turner Syndrome, Noonan Syndrome, ISS
- Trial name
- REAL 9 (NCT05723835)
- Testing
- Somapacitan
- Where
- 18 sites in United States, Malaysia and 4 more
- Volunteers
- 47 people
- Sponsor
- Novo Nordisk A/S
Impaired Synaptic Plasticity, Impaired Cognition
Synaptic Plasticity and Cognitive Function in RASopathies
The project is targeting cognitive impairment, one of the main health problems of patients with RAS pathway disorders. The aim of this study is to translate findings of animal studies to humans.
- Trial name
- SynCoRAS (NCT03504501)
- Testing
- Lovastatin, Lamotrigine
- Where
- Germany
- Volunteers
- 16 people
- Sponsor
- Technical University of Munich