Clinical trials: Noonan Syndrome
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
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
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma.
- Conditions
- Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome
- Trial name
- DANNIgene (NCT06147414)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 550 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cardiomegaly, Noonan Syndrome
MEK Inhibitors for the Treatment of Hypertrophic Cardiomyopathy in Patients With RASopathies
The goal of this study is to evaluate the effectiveness of trametinib treatment in patients with Hyperthropic cardiomyopathy and a genetic mutation in the RAS/MAPK pathway.
- Trial name
- MEKinRAS (NCT06555237)
- Testing
- Trametinib tablet, Standard therapy
- Where
- Poland
- Volunteers
- 40 people
- Sponsor
- Medical University of Warsaw
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
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)
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
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Advanced or Metastatic Solid Tumors
A Dose Escalation/Expansion Study of ERAS-601 in Patients With Advanced or Metastatic Solid Tumors
To evaluate the safety and tolerability of escalating doses of ERAS-601 when administered as a monotherapy and in combination with other cancer therapies in study participants with advanced or metastatic solid tumors.
- Trial name
- FLAGSHP-1 (NCT04670679)
- Testing
- ERAS-601, Cetuximab, Pembrolizumab
- Where
- 14 sites in United States, Australia
- Volunteers
- 90 people
- Sponsor
- Erasca, Inc.
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
Non-small Cell Lung Cancer, Colorectal Cancer
A Study of JAB-3312 in Adult Patients With Advanced Solid Tumors in China
This is a Phase 1, open-label dose-escalation study to determine the maximum tolerated dose (MTD) and/or recommended Phase 2 dose (RP2D) and assess the DLT of JAB-3312.
- Conditions
- Non-small Cell Lung Cancer, Colorectal Cancer, Pancreatic Ductal Carcinoma, Esophageal Squamous Cell Carcinoma
- Trial name
- NCT04121286
- Testing
- JAB-3312
- Where
- 5 sites in China
- Volunteers
- 17 people
- Sponsor
- Allist Pharmaceuticals, Inc.
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
Child Syndrome
Study of Metabolic Modifications in Children With Noonan Syndrome
Noonan syndrome (NS) is a rare genetic disease (incidence 1/2500 live births) characterized by the association of craniofacial manifestations, cardiopathies, short stature, and tumor predisposition.
- Trial name
- MetabNoonan (NCT02383316)
- Testing
- Oral Glucose tolerance test
- Where
- France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Toulouse
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
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
Solid Tumor
Dose-Esc/Exp RMC4630 & Cobi in Relapsed/Refractory Solid Tumors & RMC4630& Osi in EGFR+ Locally Adv/Meta NSCLC
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetic (PK), and pharmacodynamic (PD) profiles of RMC-4630 and cobimetinib in adult participants with relapsed/refractory solid tumors with specific…
- Trial name
- NCT03989115
- Testing
- RMC-4630, Cobimetinib, Drug: Osimertinib
- Where
- 24 sites in United States, South Korea
- Volunteers
- 113 people
- Sponsor
- Revolution Medicines, Inc.
Noonan Syndrome
Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome
This study evaluate the efficacy of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-COA) reductase inhibitors, also known as "statins" in the treatment of growth and skeletal abnormalities in children with Noonan syndrome.
- Trial name
- RASTAT (NCT02713945)
- Testing
- Simvastatin
- Where
- 12 sites in France
- Volunteers
- 53 people
- Sponsor
- University Hospital, Toulouse
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
Advanced Non-squamous Non-small-cell Lung Cancer
A Study of Anti-Cancer Therapies Targeting the MAPK Pathway in Patients With Advanced NSCLC
To evaluate the safety and tolerability of escalating doses of ERAS-007 or ERAS-601 in combination with other cancer therapies in study participants with advanced non-small cell lung cancer (NSCLC).
- Trial name
- HERKULES-2 (NCT04959981)
- Testing
- ERAS-007, ERAS-601, Osimertinib
- Where
- 11 sites in United States
- Volunteers
- 24 people
- Sponsor
- Erasca, Inc.
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