Clinical trials: Genetic Mutations
NSCLC
Lazertinib for Patients With NSCLC Harboring Uncommon EGFR Mutations
The primary objective is to evaluate the antitumor efficacy of lazertinib in patients with NSCLC harboring uncommon EGFR mutations.
- Trial name
- LU21-16 (NCT05277701)
- Testing
- Lazertinib
- Where
- South Korea
- Volunteers
- 36 people
- Sponsor
- Yonsei University
Non-Small Cell Lung Cancer With EGFR Mutation
A Phase Ib/II Clinical Study of GH21 Capsules Combined With Osimertinib Mesylate Tablets in Patients With NSCLC
This study, including phase Ib , phase IIa and phase IIb, aims to evaluate the safety, tolerability, PK profile, efficacy and to determine the RP2D of GH21 capsules combined with Osimertinib mesylate tablets in NSCLC patients…
- Trial name
- NCT06306456
- Testing
- GH21, Tagrisso
- Where
- 6 sites in China
- Volunteers
- 94 people
- Sponsor
- Suzhou Genhouse Bio Co., Ltd.
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing GDC-0032 (Taselisib) as a Potential Targeted Treatment in Cancers With PIK3CA Genetic Changes (MATCH-Subprotocol I)
This phase II MATCH treatment trial identifies the effects of GDC-0032 (taselisib) in patients whose cancer has a genetic change called PIK3CA mutation.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma
- Trial name
- NCT04439175
- Testing
- Taselisib
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- National Cancer Institute (NCI)
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
Cystic Fibrosis
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Ivacaftor in Subjects With Cystic Fibrosis Who Are Less Than 24 Months of Age and Have an Ivacaftor-Responsive CFTR Mutation
The purpose of this study was to evaluate the safety of ivacaftor treatment, and PK of ivacaftor and metabolites in participants with cystic fibrosis (CF) who are <24 months of age at treatment initiation and have an…
- Trial name
- NCT02725567
- Testing
- IVA
- Where
- 23 sites in United States, Australia and 3 more
- Volunteers
- 57 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Idiopathic Parkinson's Disease (PD)
Study on the Incidence of Malignant Neoplasms in Patients With Parkinson's Disease and Heterozygous Mutation of the GBA Gene
This multicenter retrospective observational study investigates the incidence of malignant neoplasms in Parkinson's disease (PD) patients carrying heterozygous pathogenic variants in the GBA1 gene.
- Trial name
- ONCOGBA (NCT06814431)
- Where
- 4 sites in Italy
- Volunteers
- 3,000 people
- Sponsor
- Azienda USL Reggio Emilia - IRCCS
Cancer
Study to Investigate Safety, Pharmacokinetic (PK), Pharmacodynamic (PD) and Clinical Activity of Trametinib in Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Subjects With Cancers Harboring V600 Mutations
This was a 4-part (Part A, Part B, Part C and Part D), Phase I/IIa, multi-center, open label, study in pediatric subjects with refractory or recurrent tumors.
- Trial name
- NCT02124772
- Testing
- Trametinib, Dabrafenib
- Where
- 16 sites in United States, Australia and 3 more
- Volunteers
- 139 people
- Sponsor
- Novartis Pharmaceuticals
Cystic Fibrosis
Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of SPL84 in Patients With Cystic Fibrosis
The goal of this clinical trial is to learn if drug SPL84 is safe for adult patients with cystic fibrosis (CF). It will also learn if the drug works to treat works to treat CF with a specific mutation (3849 +10kb C-->T).
- Trial name
- NCT06429176
- Testing
- SPL84
- Where
- 3 sites in United States
- Volunteers
- 64 people
- Sponsor
- SpliSense Ltd.
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Epilepsy
Impact of Thermocoagulation During Invasive EEG Monitoring in Children With Focal Drug-resistant Epilepsies
When focal epilepsies become drug-resistant, it could be eligible for cortical surgical resection. Therefore, an invasive EEG monitoring with depth electrodes is often needed during presurgical evaluation.
- Trial name
- COAG (NCT02886650)
- Testing
- Thermocoagulation
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
BRCA1 Mutation, High-grade Serous Ovarian Cancer
Breast Cancer BRCA1 Carriers: a Pilot Study
The purpose of this study is to examine how a single dose of MIFEPREX® (mifepristone) affects the breast tissue in patients with BRCA1 (a gene that normally acts to restrain the growth of cells in the breast, but if it mutates…
- Conditions
- BRCA1 Mutation, High-grade Serous Ovarian Cancer, TNBC - Triple-Negative Breast Cancer
- Trial name
- NCT05062174
- Testing
- Mifepristone 200 MG, Prophylactic mastectomy
- Where
- 2 sites in United States
- Sponsor
- Indiana University
NSCLC
TAGRISSO (Osimertinib) in NSCLC Patients in Whom T790 Mutations Are Detected by Liquid Biopsy
In this trial, anti-tumor efficacy of TAGRISSO in NSCLC patients in whom T790 mutations are detected by liquid biopsy.
- Trial name
- NCT03394118
- Testing
- Osimertinib
- Where
- South Korea
- Volunteers
- 63 people
- Sponsor
- Asan Medical Center
Muscular Dystrophy, Duchenne, Muscular Dystrophies
An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
The primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren…
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT02090959
- Testing
- Ataluren
- Where
- 58 sites in United States, Australia and 17 more
- Volunteers
- 219 people
- Sponsor
- PTC Therapeutics
Breast Cancer
Women At Risk: The High Risk Breast Cancer Program
The purpose of this study is to increase understanding of women who are at high risk for developing breast cancer. Data from this group will be collected and entered into a registry.
- Trial name
- WAR (NCT01034891)
- Where
- 2 sites in United States
- Volunteers
- 2,000 people
- Sponsor
- New York Presbyterian Hospital
Advanced or Metastatic NSCLC Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion (ex20ins) Mutations
A Study of Zipalertinib in Patients With Advanced Non-Small Cell Lung Cancer With Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertions or Other Uncommon Mutation.
The purpose of this study is to evaluate the safety, efficacy and pharmacokinetics (PK) of zipalertinib in participants with locally advanced or metastatic Non-Small Cell Lung Cancer (NSCLC) harboring EGFR ex20ins mutations and…
- Trial name
- REZILIENT2 (NCT05967689)
- Testing
- TAS6417, CYP Cocktail, Transporter Cocktail
- Where
- 80 sites in United States, Australia and 10 more
- Volunteers
- 220 people
- Sponsor
- Taiho Oncology, Inc.
Hearing Disorder
Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan
Objective: One objective of this study is to genetically map and identify mutated genes for human hereditary hearing loss. A second objective is to study the function of these genes in the auditory system using mouse models.
- Trial name
- NCT00341874
- Where
- Pakistan
- Volunteers
- 18,009 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Ovarian Cancer
FLABRA: Frontline Approach for BRCA Testing in OC Treatment naïve Population. A LATIN AMERICA Epidemiologic Study
This study aims to answer very important questions regarding the prevalence of somatic and germline mutations (sBRCAm and gBRCAm) in a population of newly diagnosed ovarian cancer patients from Latin America.
- Trial name
- FLABRA (NCT02984423)
- Where
- 27 sites in Argentina, Brazil and 4 more
- Volunteers
- 471 people
- Sponsor
- AstraZeneca
NSCLC
A Study With BPI-1178 and Osimertinib in Advanced Non-small Cell Lung Cancer Patients With EGFR Mutations
BPI-1178 is a novel, orally administered inhibitor of both cyclin-dependent kinase 4 (CDK4) and CDK6 kinase activity. This open-label investigator-initiated trial (IIT) phase I study was designed to evaluate the safety and…
- Trial name
- EGFR (NCT06362980)
- Testing
- BPI-1178, Osimertinib
- Where
- China
- Volunteers
- 20 people
- Sponsor
- National Cancer Center, China
Allan-Herndon-Dudley Syndrome
Thyroid Hormone Analog Therapy in MCT8 Deficiency: Triac Trial Patients
This therapeutical trial will be conducted in patients with the Allan-Herndon-Dudley Syndrome (AHDS), which is mutations in MCT8.
- Trial name
- NCT02060474
- Testing
- Triac
- Where
- Netherlands
- Volunteers
- 46 people
- Sponsor
- Erasmus Medical Center
Advanced Solid Tumors With MAPK Signal Pathway Mutations
GH55 for Advanced Cancers With MAPK Mutations: A Study on Safety and Early Results
This is a multi-center, open-label, dose escalation phase I and dose expansion phase II study aimed to evaluate the safety, tolerability, PK and PD profiles as well as to observe the efficacy of GH55 in patients with MAPK mutant…
- Trial name
- NCT06310382
- Testing
- GH55
- Where
- China
- Volunteers
- 110 people
- Sponsor
- Suzhou Genhouse Bio Co., Ltd.