Clinical trials: Genetic Mutation
Solid Tumors, Advanced Cancer
APL-101 Study of Subjects With NSCLC With c-Met EXON 14 Skip Mutations and c-Met Dysregulation Advanced Solid Tumors
To assess: efficacy of APL-101 as monotherapy for the treatment of NSCLC harboring MET Exon 14 skipping mutations, NSCLC harboring MET amplification, solid tumors harboring MET amplification, solid tumors harboring MET fusion…
- Conditions
- Solid Tumors, Advanced Cancer, Renal Cancer, Gastric Cancer
- Trial name
- SPARTA (NCT03175224)
- Testing
- APL-101 Oral Capsules
- Where
- 35 sites in United States, Australia and 9 more
- Volunteers
- 497 people
- Sponsor
- Apollomics Inc.
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2 Open-label study is to evaluate the long-term safety and tolerability of Ultevursen administered via intravitreal injection (IVT) in participants with Retinitis Pigmentosa due to mutations in exon 13…
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- CAPELLA (NCT07796646)
- Testing
- No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Refractory Cancer, CNS Tumors
A Study of Avutometinib for People With Solid Tumor Cancers
The purpose of this study is to find out whether avutometinib is a safe treatment for advanced or recurrent solid tumor cancers in children and young adults.
- Conditions
- Refractory Cancer, CNS Tumors, CNS Tumor, Adult, CNS Tumor, Childhood
- Trial name
- NCT06104488
- Testing
- Avutometinib
- Where
- 2 sites in United States
- Volunteers
- 3 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Nsclc, EGFR Activating Mutation
Pembrolizumab, Lenvatinib and Chemotherapy After TKIs in NSCLC
Adding chemotherapy or anti-VEGF to immunotherapy is an emerging strategy to enhance the efficacy of immunotherapy in many cancers.
- Conditions
- Nsclc, EGFR Activating Mutation, EGF-R Positive Non-Small Cell Lung Cancer, ALK Gene Rearrangement Positive
- Trial name
- NCT04989322
- Testing
- Pembrolizumab, Lenvatinib, Pemetrexed
- Where
- Hong Kong
- Volunteers
- 46 people
- Sponsor
- Dr Joanne CHIU
Breast Cancer
InheriteD brEast caNcer iTalian regIsTrY A Retrospective-prospective Observational Cohort Study to Evaluate Cancer Prevention Strategies in Women With a Deleterious Mutation in BRCA1-2
The purpose of the study is to obtain and centralize data about cancer prevention strategies in women with a germline deleterious mutation in BRCA1-2 with or without a history of breast cancer in Italy
- Trial name
- IDENTITY (NCT05835739)
- Where
- 12 sites in Italy
- Volunteers
- 78 people
- Sponsor
- Centro di Riferimento Oncologico - Aviano
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
Leukemia, Myeloid, Acute
HDM201 Added to CT in R/R or Newly Diagnosed AML
This is a multi-center open-label Phase I/II study investigating orally administered HDM201 in combination with chemotherapy in two populations: subjects with first line AML or subjects with relapsed/refractory AML.
- Trial name
- NCT03760445
- Testing
- HDM201, cytarabine, anthracycline
- Sponsor
- Novartis Pharmaceuticals
Pancreatic Cancer
Validation of a Mouse Model of Pancreatic Carcinogenesis
The primary aim of this study is to determine if mutations of BRCA1 and BRCA2 result in different precancerous pathways to pancreatic ductal adenocarcinoma (PDAC), as suggested in our validated mouse model.
- Trial name
- NCT01103128
- Where
- United States
- Volunteers
- 450 people
- Sponsor
- Columbia University
Non-small Cell Lung Cancer
Inetetamab in Combination With Pyrotinib in HER2 Mutant or Amplified Advanced Non-small Cell Lung Cancer
This is a Phase 1, open-label study to evaluate the safety and the efficacy of inetetamab in combination with pyrotinib in patients in HER2 mutant or amplified patients with advanced non-small cell lung cancer
- Trial name
- NCT05016544
- Testing
- inetetamab, Pytotinib
- Where
- China
- Volunteers
- 48 people
- Sponsor
- Sun Yat-sen University
KRAS Mutation-Related Tumors, Metastatic Solid Tumor
A Study of Repotrectinib in Combination With Other Anticancer Therapies for the Treatment of Subjects With KRAS-Mutant Solid Tumors
A Phase 1b/2 Study of Repotrectinib in Combination with Other Anticancer Therapies for the Treatment of Subjects with KRAS-Mutant Advanced Solid Tumors (TRIDENT-2)
- Conditions
- KRAS Mutation-Related Tumors, Metastatic Solid Tumor, Advanced Solid Tumor
- Trial name
- NCT05071183
- Testing
- TPX-0005, Trametinib
- Where
- 6 sites in United States
- Volunteers
- 9 people
- Sponsor
- Turning Point Therapeutics, Inc.
BRCA1 Mutation Carrier, BRCA2 Mutation Carrier
Soy Isoflavones Supplementation in Treating Women at High Risk For or With Breast Cancer
RATIONALE: Chemoprevention is the use of certain drugs to keep cancer from forming. The use of soy isoflavones supplements may prevent or treat early stage breast cancer.
- Conditions
- BRCA1 Mutation Carrier, BRCA2 Mutation Carrier, Ductal Breast Carcinoma in Situ, Lobular Breast Carcinoma in Situ
- Trial name
- NCT01219075
- Testing
- soy isoflavones, questionnaire administration, magnetic resonance imaging
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- University of Southern California
Amino Acid Metabolism, Inborn Errors
Ataluren for Nonsense Mutation Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl).
- Trial name
- NCT01141075
- Testing
- Ataluren
- Where
- 9 sites in Belgium, France and 4 more
- Volunteers
- 11 people
- Sponsor
- PTC Therapeutics
KRAS NP_004976.2:p.G12D, Metastatic Pancreatic Adenocarcinoma
iExosomes in Treating Participants With Metastatic Pancreas Cancer With KrasG12D Mutation
This phase I trial studies the best dose and side effects of mesenchymal stromal cells-derived exosomes with KrasG12D siRNA (iExosomes) in treating participants with pancreatic cancer with KrasG12D mutation that has spread to…
- Conditions
- KRAS NP_004976.2:p.G12D, Metastatic Pancreatic Adenocarcinoma, Pancreatic Ductal Adenocarcinoma, Stage IV Pancreatic Cancer AJCC v8
- Trial name
- NCT03608631
- Testing
- Mesenchymal Stromal Cells-derived Exosomes with KRAS G12D siRNA
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- M.D. Anderson Cancer Center
Fabry Disease
Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
The primary objective of this study was to compare the effect of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) versus placebo on kidney globotriaosylceramide (GL-3).
- Trial name
- NCT00925301
- Testing
- migalastat hydrochloride
- Where
- 28 sites in United States, Argentina and 11 more
- Volunteers
- 67 people
- Sponsor
- Amicus Therapeutics
Paroxysmal Dyskinesia
Neural Correlates of Movement Disorders Associated With PRRT2 Related Paroxysmal Kinesigenic Dyskinesia - an Ancillary Study of AMEDYST Research
The main objective of this study is to investigate in real-time the neuronal correlates of paroxysmal dyskinesia episodes related to the PRRT2 mutation within this subgroup of patients (who can control paroxysmal dyskinesia…
- Trial name
- TRIGGER (NCT06701851)
- Testing
- Voluntary and involuntary conditions
- Where
- France
- Volunteers
- 1 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Adult Solid Neoplasm, BRCA1 Mutation Carrier
Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer
This phase I trial is studying the side effects and best dose of veliparib when given together with carboplatin and paclitaxel in treating patients with advanced solid cancer.
- Conditions
- Adult Solid Neoplasm, BRCA1 Mutation Carrier, BRCA2 Mutation Carrier, Hereditary Breast and Ovarian Cancer Syndrome
- Trial name
- NCT00535119
- Testing
- Carboplatin, Laboratory Biomarker Analysis, Paclitaxel
- Where
- 7 sites in United States
- Volunteers
- 107 people
- Sponsor
- National Cancer Institute (NCI)
Cancer Genetics
Adaptation to Living With a BRCA1/2 Mutation
Background: Women who have a BRCA1/2 gene mutation have a very high risk of developing breast or ovarian cancer. They are also at increased risk of other developing other cancers.
- Trial name
- NCT01866865
- Where
- United States
- Volunteers
- 142 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Locally Advanced or Metastatic Conventional Chondrosarcoma With an IDH1 Mutation, Untreated or Previously Treated With 1 Systemic Treatment Regimen
Ivosidenib in Participants With Locally Advanced or Metastatic Conventional Chondrosarcoma Untreated or Previously Treated With 1 or 2 Systemic Treatment Regimens
Study CL3-95031-007 (CHONQUER) is a Phase 3, international, multicenter, double-blind, randomized, placebo-controlled study of orally administered ivosidenib.
- Trial name
- CHONQUER (NCT06127407)
- Testing
- Ivosidenib 500mg
- Where
- 115 sites in United States, Australia and 15 more
- Volunteers
- 156 people
- Sponsor
- Servier Bio-Innovation LLC
Fabry Disease, Cardiac Variant
Natural History in Fabry Patients With IVS4+919G>A Mutation
Fabry disease is caused by the deficiency or absence of alpha-galactosidase A (α-Gal A) activity, leading to progressive deposition of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosomes of multiple tissues…
- Trial name
- NCT03222336
- Testing
- Family pedigree and data collection
- Volunteers
- 80 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
Intrahepatic Cholestasis of Pregnancy, Genetic Mutation
Bile Acids Metabolism and Genetic Mutation Profile in the Intrahepatic Cholestasis of Pregnacy in Indian Population
Intrahepatic cholestasis of pregnancy (ICP) is a disorder characterized by itching, elevated fasting serum bile acids ≥10μmol/L (and elevated serum transaminases), with increased risks of perinatal complications, including…
- Conditions
- Intrahepatic Cholestasis of Pregnancy, Genetic Mutation, Health Related Quality of Life
- Trial name
- ICP (NCT05691036)
- Where
- India
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Post Graduate Institute of Medical Education and Research, Chandigarh
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