Clinical trials: Mutation
Lymphatic Malformations
Alpelisib in Pediatric and Adult Patients With Lymphatic Malformations Associated With a PIK3CA Mutation.
The main purpose of this study in participants with PIK3CA-mutated LyM is to assess the change in radiological response and symptom severity upon treatment with alpelisib film-coated tablets (FCT) as compared to placebo.
- Trial name
- EPIK-L1 (NCT05948943)
- Testing
- Alpelisib
- Where
- 61 sites in United States, Argentina and 10 more
- Volunteers
- 232 people
- Sponsor
- Novartis Pharmaceuticals
Urea Cycle Disorders
Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function
This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle…
- Trial name
- NCT01549015
- Testing
- oral administration of Sodium [1,2-13C]-Acetate
- Where
- 4 sites in Germany
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Cytonet GmbH & Co. KG
Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy
Factors Contributing to Increased Left Ventricle Size in Patients With Abnormally Enlarged Hearts
The human heart is divided into four chambers. One of the four chambers, the left ventricle, is the chamber mainly responsible for pumping blood out of the heart into the circulation.
- Trial name
- NCT00001878
- Where
- United States
- Volunteers
- 175 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
HIV Disease
Evaluation of 3TC or FTC Mono-therapy Compared to Continuing HAART as a Bridging Strategy
The purpose of this study was to compare the use of lamivudine (3TC) or emtricitabine (FTC) alone vs. continuing a failing highly active antiretroviral therapy (HAART) regimen in HIV infected children, adolescents and young…
- Trial name
- P1094 (NCT01338025)
- Testing
- HAART regimen, 3TC or FTC monotherapy
- Where
- 17 sites in United States, Argentina and 3 more
- Volunteers
- 33 people
- Sponsor
- International Maternal Pediatric Adolescent AIDS Clinical Trials Group
Astrocytoma, Astrocytic Tumors
Impact of IDH Mutation and Adjuvant Chemo(radio)therapy on Survival Outcome in Grade II/III Astrocytoma
This study looked at a type of brain tumor called astrocytoma and how specific genetic changes like IDH mutations affect patients outcomes.
- Conditions
- Astrocytoma, Astrocytic Tumors, Astrocytoma of Brain
- Trial name
- NCT06620926
- Testing
- IDH mutant-type, IDH wild-type
- Where
- Egypt
- Volunteers
- 811 people
- Sponsor
- asmaa salama ibrahim
Breast Cancer
Lynparza Breast Cancer Clinical Experience Investigation
To characterise the development of ADRs of bone marrow depression in patients under actual post-marketing use
- Trial name
- NCT03590938
- Where
- 31 sites in Japan
- Volunteers
- 111 people
- Sponsor
- AstraZeneca
Non-small Cell Lung Cancer
Special Drug Use-results Surveillance of Tabrecta Tablets
This study was an uncontrolled, primary data collection-based observational study to be conducted as a central registration system, multicenter special drug-use results surveillance.
- Trial name
- NCT04575025
- Testing
- Tabrecta tablets
- Where
- 78 sites in Japan
- Volunteers
- 109 people
- Sponsor
- Novartis Pharmaceuticals
Myopia
Myopia:the Role of Cone Opsin Mutations & Glasses That Control Axial Elongation
1. To determine the effect of spectacles with a red blocking filter on myopia progression in children. 2. To determine the effect of spectacles with a holographic diffuser that spreads incident light rays over an angle of 0.5…
- Trial name
- NCT01923675
- Testing
- Spectacles with red-blocking tint, Spectacles with holographic diffuser and color neutral tint, Spectacles with holographic diffuser and red-blocking tint
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Washington
IDH1-mutant Glioma, IDH2-mutant Glioma
Vorasidenib in Combination With Temozolomide (TMZ) in IDH-mutant Glioma
The objective of this study is to determine the safety and tolerability of vorasidenib in combination with temozolomide (TMZ) and to establish the recommended combination dose (RCD) of vorasidenib.
- Trial name
- NCT06478212
- Testing
- Vorasidenib, Temozolomide (TMZ)
- Where
- 28 sites in United States, Austria and 9 more
- Volunteers
- 51 people
- Sponsor
- Institut de Recherches Internationales Servier
Cystic Fibrosis
A Study of the Effects of Lumacaftor/Ivacaftor (LUM/IVA) on Exercise Tolerance in Subjects With Cystic Fibrosis (CF), Homozygous for the F508del-CFTR Mutation
This is a Phase 4, randomized, double-blind, placebo-controlled, parallel-group study in subjects aged 12 years and older with CF who are homozygous for the F508del-CFTR mutation.
- Trial name
- NCT02875366
- Testing
- LUM/IVA
- Where
- 12 sites in Australia, United Kingdom
- Volunteers
- 70 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Menin Inhibitors, Acute Leukemia
A Real-world Study on the Efficacy and Safety of Menin Inhibitors as Maintenance After Allo-HSCT
The objective of this observational study is to evaluate the efficacy and safety of menin inhibitor maintenance therapy in patients with acute leukemia who have undergone allogeneic hematopoietic stem cell transplantation…
- Conditions
- Menin Inhibitors, Acute Leukemia, Post Hematopoietic Stem Cell Transplantation, Maintenance Therapy
- Trial name
- NCT07559695
- Where
- China
- Volunteers
- 20 people
- Sponsor
- The First Affiliated Hospital of Soochow University
Neoplasms, Nerve Tissue, Neurofibromatosis 1
Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST)
Background: Gastrointestinal stromal tumors (GIST) can cause serious medical problems. The only known treatment is surgery. But completely removing a GIST tumor with surgery is often not possible.
- Conditions
- Neoplasms, Nerve Tissue, Neurofibromatosis 1, Heredodegenerative Disorders, Nervous System, Peripheral Nervous System Diseases
- Trial name
- NCT03109301
- Testing
- Selumetinib (AZD6244 hyd sulfate) 50mg/dose, Selumetinib (AZD6244 hyd sulfate) 25mg/m2
- Sponsor
- National Cancer Institute (NCI)
Atypical Hemolytic Uremic Syndrome
Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy
Hemolytic Uremic Syndrome (HUS) is a rare disease characterized by rupture of red blood cells (hemolytic anemia), low platelet count (thrombocytopenia), and thrombotic occlusion of small vessels (thrombotic microangiopathy), with…
- Trial name
- aHUS-iPSC-EC (NCT05805202)
- Testing
- Blood sampling and urine analysis
- Where
- Italy
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Neuroblastoma
A Pilot Study on ALK Gene Mutations in Neuroblastoma
Neuroblastoma (NB) originates from the sympathetic nervous system and is one of the most common cancers in infants and children.
- Trial name
- NCT01986595
- Where
- Taiwan
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Leber Congenital Amaurosis 10, Blindness
An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
PQ-110-005 (BRIGHTEN) is an open-label, dose escalation and double-masked, randomized, controlled study evaluating safety and tolerability of sepofarsen administered via intravitreal (IVT) injection in pediatric subjects (<8…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- BRIGHTEN (NCT04855045)
- Testing
- sepofarsen
- Where
- 9 sites in Belgium, Brazil and 5 more
- Volunteers
- 15 people
- Sponsor
- ProQR Therapeutics
Leber Congenital Amaurosis, LCA
Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
Primary Objective: To evaluate the safety and tolerability of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with Leber Congenital Amaurosis (LCA) caused by autosomal recessive guanylate…
- Conditions
- Leber Congenital Amaurosis, LCA, LCA1
- Trial name
- NCT03920007
- Testing
- ATSN-101, ATSN-101 Diluent Solution, Prednisone
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- Atsena Therapeutics Inc.
Nephrotic Syndrome
Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East
Nephrotic syndrome (NS) represents one of the most common diagnoses in pediatric and adult nephrology, with a prevalence of 16 per 100,000 children and 3 per 100,000 adults in Western countries.
- Trial name
- NCT03326037
- Testing
- Genotyping of the NPHS2 variant rs61747728
- Where
- Kuwait
- Volunteers
- 150 people
- Sponsor
- AHMED ABDULQADER HAMMOUDA ABOU SHALL
Lung Cancer
Vaccine Therapy and Sargramostim in Treating Patients With Non-small Cell Lung Cancer
RATIONALE: Vaccines may make the body build an immune response to kill tumor cells. Colony-stimulating factors such as sargramostim may increase the number of immune cells found in bone marrow or peripheral blood.
- Trial name
- NCT00005630
- Testing
- ras peptide cancer vaccine, sargramostim
- Where
- United States
- Sponsor
- Memorial Sloan Kettering Cancer Center
Brain and Central Nervous System Tumors, Hereditary Wilms Tumor
Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the development of some types of cancer, and may…
- Conditions
- Brain and Central Nervous System Tumors, Hereditary Wilms Tumor, Kidney Cancer, Liver Cancer
- Trial name
- NCT01353300
- Testing
- DNA analysis, cytogenetic analysis, gene expression analysis
- Volunteers
- 31 people
- Sponsor
- Children's Oncology Group
Carcinoma, Non-Small-Cell Lung
Survey on the Treatment Reality of Patients With Epidermal Growth Factor Receptor (EGFR) Mutation-positive Non-small Cell Lung Cancer(NSCLC)
According to the recent report using EGFR tyrosine kinase inhibitors (EGFR-TKI), there is all over survival of the EGFR gene mutation-positive NSCLC in a tendency to extension.
- Trial name
- NCT02475720
- Where
- Japan
- Volunteers
- 2,000 people
- Sponsor
- AstraZeneca