Clinical trials: Genetic Mutation
Alport Syndrome
A Study of ELX-02 in Patients With Alport Syndrome
This is a Phase 2 open label pilot study to evaluate the safety and efficacy of subcutaneously administered ELX-02 in patients with X-linked or autosomal recessive Alport Syndrome with Col4A5 and Col4A3/4 nonsense mutation.
- Trial name
- NCT05448755
- Testing
- ELX-02
- Where
- 4 sites in Australia, United Kingdom
- Volunteers
- 3 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Cohort 1a and 1b: Glioma (Advanced Gliomas and Glioblastoma Multiforme), Cohort 2a and 2b: Hepatobiliary Tumors (Hepatocellular Carcinoma, Bile Duct Carcinoma, Intrahepatic Cholangiocarcinoma, Other Hepatobiliary Carcinomas)
A Study of FT-2102 in Patients With Advanced Solid Tumors and Gliomas With an IDH1 Mutation
This Phase 1/2 study will evaluate the safety, efficacy, PK, and PD of FT-2102 as a single agent and in combination with other anti-cancer drugs in patients with advanced solid tumors and gliomas.
- Conditions
- Cohort 1a and 1b: Glioma (Advanced Gliomas and Glioblastoma Multiforme), Cohort 2a and 2b: Hepatobiliary Tumors (Hepatocellular Carcinoma, Bile Duct Carcinoma, Intrahepatic Cholangiocarcinoma, Other Hepatobiliary Carcinomas), Cohort 3a and 3b: Chondrosarcoma, Cohort 4a and 4b: Intrahepatic Cholangiocarcinoma
- Trial name
- NCT03684811
- Testing
- FT-2102, Azacitidine, Nivolumab
- Where
- 26 sites in United States, Australia and 4 more
- Volunteers
- 93 people
- Sponsor
- Forma Therapeutics, Inc.
Acute Biphenotypic Leukemia, Acute Erythroid Leukemia in Remission
Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
This phase II trial studies how well donor peripheral blood stem cell (PBSC) transplant works in treating patients with hematologic malignancies.
- Conditions
- Acute Biphenotypic Leukemia, Acute Erythroid Leukemia in Remission, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia in Remission
- Trial name
- NCT01028716
- Testing
- Cyclophosphamide, Filgrastim, Fludarabine Phosphate
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- Fred Hutchinson Cancer Center
Advanced Solid Tumors
A Study of INCB099280 in Combination With Adagrasib in Adults With Advanced Solid Tumors Harboring a KRASG12C Mutation
The purpose of this study is to evaluate the safety and tolerability of INCB099280 in combination with adagrasib and to establish the MTD or identify RDE(s) for the combination of INCB099280 and adagrasib.
- Trial name
- NCT06039384
- Testing
- INCB099280, adagrasib
- Where
- 14 sites in United States, Italy and 2 more
- Volunteers
- 6 people
- Sponsor
- Incyte Corporation
Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations
Reduced-Intensity Conditioning Before Donor Stem Cell Transplant in With High-Risk Hematologic Malignancies
This phase II trial studies reduced-intensity conditioning before donor stem cell transplant in treating patients with high-risk hematologic malignancies.
- Conditions
- Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations, Acute Myeloid Leukemia With Inv(3) (q21.3;q26.2); GATA2, MECOM, Acute Myeloid Leukemia With t(6;9) (p23;q34.1); DEK-NUP214
- Trial name
- NCT01760655
- Testing
- Fludarabine phosphate, Busulfan, Total-Body Irradiation
- Where
- United States
- Volunteers
- 62 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Thomas Jefferson University
Cystic Fibrosis, Homozygous for the F508del CFTR Mutation
A Study of Lumacaftor in Combination With Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older Who Are Homozygous for the F508del-CFTR Mutation
The primary objective of the study was to evaluate the efficacy of lumacaftor in combination with ivacaftor at Week 24 in participants aged 12 years and older with cystic fibrosis (CF) who are homozygous for the F508del mutation…
- Trial name
- TRANSPORT (NCT01807949)
- Testing
- Lumacaftor Plus Ivacaftor Combination, Ivacaftor
- Where
- 82 sites in United States, Australia and 8 more
- Volunteers
- 563 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Advanced Stage Solid Tumors
ATRi Transition Rollover Study
The main purpose of the study was to monitor the safety of participant receiving long-term treatment of Berzosertib as monotherapy.
- Trial name
- NCT03309150
- Testing
- Berzosertib
- Where
- United Kingdom
- Volunteers
- 1 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Non-Small Cell Lung Cancer
A Study of IRESSA Treatment Beyond Progression in Addition to Chemotherapy Versus Chemotherapy Alone
The purpose of this study is to assess the efficacy and safety of gefitinib in patients who have progressed on first line gefitinib, comparing continuing gefitinib in addition to cisplatin plus pemetrexed combination chemotherapy…
- Trial name
- IMPRESS (NCT01544179)
- Testing
- Gefitinib, Pemetrexed, Cisplatin
- Where
- 61 sites in China, France and 9 more
- Volunteers
- 265 people
- Sponsor
- AstraZeneca
Advanced Solid Tumours
A Study Investigating DNA-damage Response Agents in Molecularly Altered Advanced Cancer
The study is investigating efficacy, safety and tolerability of DNA-damage Response Agents (or Combinations), in participants with advanced/metastatic solid malignancies whose tumours contain molecular alterations
- Trial name
- NCT04564027
- Testing
- Ceralasertib
- Where
- 18 sites in United States, France and 1 more
- Volunteers
- 54 people
- Sponsor
- AstraZeneca
Cystic Fibrosis
Study of Ivacaftor in Subjects With Cystic Fibrosis (CF) Who Have a Non-G551D CF Transmembrane Conductance Regulator (CFTR) Gating Mutation
The purpose of this study is to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis (CF) who have a non-G551D cystic fibrosis transmembrane regulator (CFTR) gating mutation (any one of the following…
- Trial name
- KONNECTION (NCT01614470)
- Testing
- Ivacaftor
- Where
- 12 sites in United States, Belgium and 1 more
- Volunteers
- 39 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Non Small Cell Lung Cancer, EGFR Gene Mutation
Neo-DIANA: Neoadjuvant Treatment for EGFR Mutated Patients
This is an open-label, non-randomised, phase II, multi-centre clinical trial 26 patients will be enrolled in this trial to evaluate the major pathologic response in patients with neoadjuvant treatment with Carboplatin Pemetrexed…
- Trial name
- NCT04512430
- Testing
- Atezolizumab, Bevacizumab, Carboplatin
- Where
- 18 sites in Spain
- Volunteers
- 4 people
- Sponsor
- Fundación GECP
HER2-negative Breast Cancer
Efficacy and Safety of BGB-290 in the Treatment of Metastatic HER2-Negative Breast Cancer Patients With BRCA Mutation in China
This is a Phase 2, open-label, multi-center study of BGB-290 administered orally (PO) twice daily (BID) in adult Chinese patients with advanced HER2(-) breast cancer harboring germline BRCA mutation, which have progressed despite…
- Trial name
- NCT03575065
- Testing
- BGB-290
- Where
- 20 sites in China
- Volunteers
- 88 people
- Sponsor
- BeiGene
TSC1, TSC2
Everolimus for Cancer With TSC1 or TSC2 Mutation
In this research study, the investigators are evaluating the clinical benefit of everolimus in cancer patients with inactivating TSC1 or TSC2 mutations or activating MTOR mutations.
- Conditions
- TSC1, TSC2, Tuberous Sclerosis Complex, MTOR
- Trial name
- NCT02201212
- Testing
- Everolimus
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Dana-Farber Cancer Institute
Cystic Fibrosis
A Study to Evaluate ELX/TEZ/IVA on Cough and Physical Activity in Participants With Cystic Fibrosis (CF)
This study will evaluate the effects of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) on cough and physical activity using wearable technology in CF participants.
- Trial name
- NCT04969224
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 19 sites in Australia, Belgium and 2 more
- Volunteers
- 82 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
A Study of VX-659 Combination Therapy in CF Subjects Homozygous for F508del (F/F)
This study will evaluate the efficacy of VX-659 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are homozygous for the F508del mutation (F/F).
- Trial name
- NCT03460990
- Testing
- VX-659/TEZ/IVA, TEZ/IVA, IVA
- Where
- 46 sites in United States, Australia and 4 more
- Volunteers
- 116 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Advanced or Metastatic Solid Tumors, FGFR Mutations
Efficacy and Safety of Pemigatinib in Participants With Solid Tumors With FGFR Mutations or Translocations (FIGHT-208)
The purpose of this study is to evaluate the efficacy and safety of pemigatinib in participants with previously treated locally advanced/metastatic or surgically unresectable solid tumors harboring activating FGFR mutations or…
- Conditions
- Advanced or Metastatic Solid Tumors, FGFR Mutations, FGFR Translocations
- Trial name
- NCT04003623
- Testing
- Pemigatinib
- Where
- 11 sites in United States
- Volunteers
- 1 people
- Sponsor
- Incyte Corporation
Carcinoma, Non-Small-Cell Lung
Long-term Observation PMS for Afatinib
In Japan, post-approval execution of post marketing surveillance (PMS) is requested by the Japanese Pharmaceutical Affairs Law (J-PAL) in order to accumulate safety and efficacy data for reexamination.
- Trial name
- NCT02131259
- Testing
- Afatinib dimaleate
- Where
- 432 sites in Japan
- Volunteers
- 1,605 people
- Sponsor
- Boehringer Ingelheim
Ovarian Cancer, Breast Cancer
A Phase II Single Arm Pilot Study of the Chk1/2 Inhibitor (LY2606368) in BRCA1/2 Mutation Associated Breast or Ovarian Cancer, Triple Negative Breast Cancer, High Grade Serous Ovarian Cancer, and Metastatic Castrate-Resistant Prostate Cancer
Background: All cells go through cycles which allow them to divide. In normal cells, checkpoint kinase 1 (Chk1) and checkpoint kinase 2 (Chk2) (CHEK 2 (Chk1/2) stop cell division at various points to allow any damage to…
- Conditions
- Ovarian Cancer, Breast Cancer, Prostate Cancer
- Trial name
- NCT02203513
- Testing
- LY2606368
- Where
- United States
- Volunteers
- 111 people
- Sponsor
- National Cancer Institute (NCI)