Clinical trials: Craniofacial Defects
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
Prostheses and Implants, Craniofacial Defects
BioComp Implants in Anaplastology - Pilot Study
At the department of Cranio-Maxillofacial Surgery, Maastricht University Medical Center (MUMC) the routine procedure after ablation of the nose, ear or eye is reconstruction with an episthesis.
- Trial name
- NCT02444962
- Testing
- HAVD-implant
- Where
- Netherlands
- Volunteers
- 10 people
- Sponsor
- Maastricht University Medical Center
Birth Defects, Cleft Palate
Svangerskap, Arv, Og Miljo (Pregnancy, Heredity and Environment)
This proposal describes a population-based case-control study of all Norwegian infants born with cleft lip or palate over a five-year period. The study will be jointly supported by the U.S.
- Conditions
- Birth Defects, Cleft Palate, Cleft Lip
- Trial name
- NCT00340977
- Where
- 2 sites in Norway
- Volunteers
- 4,091 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
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
DiGeorge Syndrome, Shprintzen Syndrome
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II.
- Conditions
- DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple
- Trial name
- NCT00005102
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Center for Research Resources (NCRR)
Advanced EGFR Mutant Non Small Cell LungCancer (NSCLC), KRAS G12-mutant NSCLC
Dose Finding Study of TNO155 in Adult Patients With Advanced Solid Tumors
The purpose of this first in human (FIH) trial was to characterize the safety and tolerability of the SHP2 inhibitor TNO155 alone and in combination with EGF816 (nazartinib) and identify a recommended dose for future studies in…
- Conditions
- Advanced EGFR Mutant Non Small Cell LungCancer (NSCLC), KRAS G12-mutant NSCLC, Esophageal Squamous Cell Cancer (SCC), Head/Neck SCC
- Trial name
- NCT03114319
- Testing
- TNO155, TNO155 in combination with EGF816 (nazartinib)
- Where
- 18 sites in United States, Canada and 7 more
- Volunteers
- 227 people
- Sponsor
- Novartis Pharmaceuticals
Turner Syndrome, Short Stature Homeobox Gene Mutation
Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
This basket trial will enroll prepubertal children and adolescents with clinically diagnosed and genetically confirmed (if applicable) TS, SHOX-D, SGA, or ISS between ages of ≥2 and <18 years with open growth plates.
- Conditions
- Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
- Trial name
- NCT07221851
- Testing
- Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector
- Where
- 51 sites in United States, France and 5 more
- Volunteers
- 186 people
- Sponsor
- Ascendis Pharma A/S
Genetic Disorder, Noonan Syndrome
Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome
This trial is conducted in Asia. The aim of the trial is to investigate the long-term efficacy and safety of two doses of NN-220 (somatropin) in short stature due to Noonan syndrome.
- Trial name
- NCT01927861
- Testing
- somatropin
- Where
- 27 sites in Japan
- Volunteers
- 51 people
- Sponsor
- Novo Nordisk A/S
Immune Deficiency Disorders, Severe Combined Immunodeficiency
Immune Disorder HSCT Protocol
This study hypothesizes that a reduced intensity immunosuppressive preparative regimen will establish engraftment of donor hematopoietic cells with acceptable early and delayed toxicity in patients with immune function disorders.
- Conditions
- Immune Deficiency Disorders, Severe Combined Immunodeficiency, Chronic Granulomatous Disease, X-linked Agammaglobulinemia
- Trial name
- NCT01821781
- Testing
- Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Washington University School of Medicine
Genetic Disorder, Noonan Syndrome
Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658
This trial is conducted in Europe. The aim of this trial is to obtain the PTPN11 mutation status and investigate the impact of the PTPN11 mutation status on the effect of somatropin (Norditropin®) by use of data obtained in the…
- Trial name
- NCT01529944
- Testing
- somatropin
- Where
- Sweden
- Volunteers
- 22 people
- Sponsor
- Novo Nordisk A/S
22q11.2 Deletion Syndrome
Effects of Methylphenidate on Brain and Cognition in 22q11 Deletion Syndrome
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders.
- Trial name
- NCT04647500
- Testing
- Concerta
- Where
- Switzerland
- Volunteers
- 45 people
- Sponsor
- University of Geneva, Switzerland
Brain Disorders, Birth Defects
Study on Moebius Syndrome and Congenital Facial Weakness Disorders
Background: Moebius syndrome limits the ability to make facial expressions like smile, frown or blink - and move the eyes laterally.
- Conditions
- Brain Disorders, Birth Defects, Craniofacial Differences
- Trial name
- NCT02055248
- Where
- United States
- Volunteers
- 207 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
22q11.2 Deletion Syndrome
Social Cognition Training and Cognitive Remediation
Social cognition refers to mental operations that enable people to perceive, interpret constantly changing social informations. These processes allow people to rapidly, effortlessly and flexibly perceive and interpret…
- Trial name
- RCKID (NCT03284060)
- Testing
- Cognitive remediation program
- Where
- France
- Volunteers
- 3 people
- Sponsor
- Hôpital le Vinatier
Complex Aortic Aneurysms, Thoracoabdominal Aneurysms
Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices
The purpose of this study is to evaluate the safety and efficacy of custom made devices, Zenith t-Branch devices and physician modification of FDA approved off-the-shelf endovascular grafts in the treatment of patients with…
- Conditions
- Complex Aortic Aneurysms, Thoracoabdominal Aneurysms, Pararenal Aneurysms, Juxtarenal Aneurysms
- Trial name
- CARPE-CMD (NCT02050113)
- Testing
- Custom Made Fenestrated or Branched Stent Graft
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Andres Schanzer
Solid Tumor, Unspecified, Adult
RLY-1971 in Subjects With Advanced or Metastatic Solid Tumors
This study is a multi-center, open-label, dose escalation and expansion study of RLY-1971 in subjects with advanced or metastatic solid tumors.
- Trial name
- NCT04252339
- Testing
- RLY-1971
- Where
- 6 sites in United States
- Volunteers
- 56 people
- Sponsor
- Hoffmann-La Roche
DiGeorge Syndrome, Complete Typical DiGeorge Anomaly
Thymus Transplantation in DiGeorge Syndrome #668
The study purpose is to determine whether cultured thymus tissue implantation (CTTI) is effective in treating typical complete DiGeorge syndrome.
- Trial name
- NCT00576407
- Testing
- Cultured Thymus Tissue for Implantation (CTTI)
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Lymphatic System Disorders Congenital, Lymphatic Diseases
Lymphatic Phenotype in Noonan Syndrome Spectrum Disorders
To get a better insight into the central conducting lymphatic system in adult volunteers with Noonan Syndrome (NS) without clinical symptoms or signs of lymphatic disease compared to NS and CardioFacioCutaan syndrome patients…
- Conditions
- Lymphatic System Disorders Congenital, Lymphatic Diseases, Noonan Syndrome, Lymphatic Disease
- Trial name
- LENS (NCT06267807)
- Testing
- Dynamic contrast-enhanced lymphangiography
- Where
- Netherlands
- Volunteers
- 9 people
- Sponsor
- Radboud University Medical Center
Pregnant Individuals, Aneuploidy
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of…
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome
- Trial name
- ADVANCE (NCT07643896)
- Where
- 9 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- BillionToOne Inc.