Clinical trials: Genetic Mutation
Cystic Fibrosis
A Study Evaluating the Long-term Safety and Efficacy of VX-445 Combination Therapy
The study evaluates the long-term safety and tolerability of VX-445 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are homozygous or heterozygous for the F508del…
- Trial name
- NCT03525574
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 110 sites in United States, Australia and 11 more
- Volunteers
- 507 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
FGFR Gene Amplification, FGFR1 Gene Amplification
BGJ398 in Treating Patients With FGFR Positive Recurrent Head and Neck Cancer
This phase IIa trial studies how well the experimental drug, BGJ398 (infigratinib), works in treating patients with fibroblast growth factor receptor (FGFR) 1-3 translocated, mutated, or amplified head and neck cancer that has…
- Conditions
- FGFR Gene Amplification, FGFR1 Gene Amplification, FGFR2 Gene Amplification, FGFR2 Gene Mutation
- Trial name
- NCT02706691
- Testing
- BGJ398
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Chicago
HNSCC
Single-arm Study With Bimiralisib in Patients With HNSCC Harboring NOTCH1 Loss of Function Mutations
Preclinical data and limited clinical evidence suggest that Head and Neck Squameous Cell Carcinoma tumors harboring certain mutations may respond well to PI3K/mTOR inhibition (phosphatidylinositol-3-kinase/ mammalian target of…
- Trial name
- HNSCC (NCT03740100)
- Testing
- Bimiralisib
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- M.D. Anderson Cancer Center
Cystic Fibrosis
Novel Therapeutic Approaches for Treatment of CF Patients With W1282X Premature Termination Codon Mutations
Based on previous clinical findings, the investigator hypothesize that ivacaftor will have synergistic effects with drugs that facilitate truncated but partially active W1282X CFTR protein processing (tezacaftor) in patients with…
- Trial name
- NCT03624101
- Testing
- Symdeko, Ivacaftor and Symdeko
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Alabama at Birmingham
Familial Hypoalphalipoproteinemia
CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases
The purpose of this study is to assess the impact of 29 intravenous infusions of CER-001 vs. placebo, given at weekly (9 infusions) and biweekly (20 infusions) intervals on carotid vessel wall area as measured by 3TMRI, when…
- Trial name
- TANGO (NCT02697136)
- Testing
- CER-001
- Where
- 19 sites in United States, Belgium and 5 more
- Volunteers
- 30 people
- Sponsor
- Cerenis Therapeutics, SA
BRCA1 Mutation, Breast Cancer
Recombinant Human Chorionic Gonadotropin in Preventing Breast Cancer in Premenopausal Women With BRCA1 Mutations
RATIONALE: Chemoprevention is the use of certain drugs to keep cancer from forming. The use of recombinant human chorionic gonadotropin may prevent breast cancer in premenopausal women with BRCA1 mutations.
- Trial name
- NCT00700778
- Testing
- recombinant human chorionic gonadotropin, microarray analysis, immunohistochemistry staining method
- Where
- 3 sites in United States, Austria
- Volunteers
- 2 people
- Sponsor
- Fox Chase Cancer Center
ALSP
Natural History Study in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressing, genetic, neurodegenerative disease for which no definitive treatment options and limited information on the natural…
- Trial name
- ALSP (NCT05020743)
- Testing
- No intervention
- Where
- 12 sites in United States, Brazil and 4 more
- Volunteers
- 56 people
- Sponsor
- Vigil Neuroscience, Inc.
Carcinoma, Renal Cell, Kidney Neoplasms
Imaging Studies of Kidney Cancer Using 18F-VM4-037
Background: The drug 18F-VM4-037 is being tested for use in cancer imaging studies. It may help tumor tissue show up more clearly during scans.
- Trial name
- NCT01712685
- Testing
- 18F-VM4-037, PET/CT
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- National Cancer Institute (NCI)
Melanoma
STA-9090(Ganetespib) in Patients With Unresectable Stage III or Stage IV Melanoma
STA9090 is a drug which inactivates or blocks the work of a protein called Heat Shock Protein 90 or HSP90. HSP90 is a protein that helps some molecules inside your cells to have the right shape.
- Trial name
- NCT01551693
- Testing
- STA-9090
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Dana-Farber Cancer Institute
Metastatic Non-Small Cell Lung Cancer
A Study of Ramucirumab (LY3009806) in Combination With Erlotinib in Previously Untreated Participants With EGFR Mutation-Positive Metastatic NSCLC (RELAY)
The main purpose of this study is to evaluate the efficacy and safety of ramucirumab in combination with erlotinib as compared to placebo in combination with erlotinib in previously untreated participants with stage IV non-small…
- Trial name
- RELAY (NCT02411448)
- Testing
- Ramucirumab, Erlotinib, Gefitinib
- Where
- 106 sites in United States, Canada and 12 more
- Volunteers
- 545 people
- Sponsor
- Eli Lilly and Company
Gastrointestinal Stromal Tumors
A Study of Sunitinib In Young Patients With Advanced Gastrointestinal Stromal Tumor
Children and young adults with gastrointestinal stromal tumors (GIST) will be treated with sunitinib. The safety (including pharmacokinetics) and tolerability of sunitinib will be studied in these patients.
- Trial name
- NCT01396148
- Testing
- sunitinib malate dose escalation, sunitinib malate
- Where
- 9 sites in United States, Czechia and 1 more
- Volunteers
- 6 people
- Sponsor
- Pfizer
Cystic Fibrosis (CF)
: TRANSITION: An Observational Study of Transition From Lumacaftor/Ivacaftor to Tezacaftor/Ivacaftor (Tez/Iva)
This study is a single center study of clinical and laboratory outcomes in patients ≥ 12 who transition from use of Orkambi to tez/iva.
- Trial name
- NCT03445793
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Jewish Health
Cystic Fibrosis
Safety and Pharmacokinetic Study of Lumacaftor/Ivacaftor in Subjects Aged 2 Through 5 Years With Cystic Fibrosis, Homozygous for F508del
This is a Phase 3, 2-part (Part A and Part B), open-label, multicenter study evaluating the pharmacokinetics (PK), safety, tolerability, and pharmacodynamics (PD) of multiple doses of lumacaftor/ivacaftor (LUM/IVA) in subjects 2…
- Trial name
- NCT02797132
- Testing
- LUM/IVA
- Where
- 20 sites in United States, Canada
- Volunteers
- 62 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
NSCLC Stage IIIB, NSCLC Stage IV
A Study Evaluating Platinum-Pemetrexed-Atezolizumab (+/-Bevacizumab) for Patients With Stage IIIB/IV Non-squamous Non-small Cell Lung Cancer With EGFR Mutations, ALK Rearrangement or ROS1 Fusion Progressing After Targeted Therapies
The objective of this study is to assess the efficacy of the combination of Platinum (carboplatin or cisplatin), Pemetrexed, Atezolizumab+/- Bevacizumab if eligible, in stage IIIB/IV non-squamous non-small cell lung cancer…
- Conditions
- NSCLC Stage IIIB, NSCLC Stage IV, EGFR Gene Mutation, ALK Gene Rearrangement Positive
- Trial name
- GFPC 06-2018 (NCT04042558)
- Testing
- Carboplatin + Pemetrexed + Atezolizumab + Bevacizumab, Carboplatin + Pemetrexed + Atezolizumab
- Where
- 31 sites in France
- Volunteers
- 150 people
- Sponsor
- Centre Francois Baclesse
Solid Tumor
Dose-Esc/Exp RMC4630 & Cobi in Relapsed/Refractory Solid Tumors & RMC4630& Osi in EGFR+ Locally Adv/Meta NSCLC
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetic (PK), and pharmacodynamic (PD) profiles of RMC-4630 and cobimetinib in adult participants with relapsed/refractory solid tumors with specific…
- Trial name
- NCT03989115
- Testing
- RMC-4630, Cobimetinib, Drug: Osimertinib
- Where
- 24 sites in United States, South Korea
- Volunteers
- 113 people
- Sponsor
- Revolution Medicines, Inc.
Lung Cancer, Non-small Cell Lung Cancer (NSCLC)
Phase I Trial of Afatinib (BIBW 2992) and Dasatinib in Non-small Cell Lung Cancer (NSCLC)
The purpose of this study is to: Find out if the study drugs Afatinib and Dasatinib can be safely given together to patients with lung cancer Learn how these two drugs work in cancer cells when they are combined Learn more about…
- Trial name
- NCT01999985
- Testing
- Dasatinib - 1A, Afatinib - 1A, Dasatinib - 1B
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Alzheimer Disease
Tau Positron Emission Tomography (PET) Longitudinal Substudy Associated With: Study of Crenezumab Versus Placebo in Preclinical Presenilin1 (PSEN1) E280A Mutation Carriers in the Treatment of Autosomal-Dominant Alzheimer's Disease
This substudy will evaluate the effect of crenezumab on the longitudinal tau burden in a subgroup of preclinical Presenilin1 (PSEN1) E280A mutation carriers and non-carriers, who were enrolled in study NCT01998841 (GN28352).
- Trial name
- NCT03977584
- Testing
- Crenezumab, [^18F]GTP1
- Where
- Colombia
- Volunteers
- 114 people
- Sponsor
- Hoffmann-La Roche
Cystic Fibrosis
Study to Evaluate the Safety and Efficacy of CTP-656 in Patients With Cystic Fibrosis With CFTR Gating Mutations
This study will evaluate the efficacy and safety of CTP-656 in patients with cystic fibrosis (CF) who have a cystic fibrosis transmembrane conductance regulator (CFTR) gating mutation.
- Trial name
- NCT02971839
- Testing
- VX-561, IVA
- Where
- 14 sites in United States
- Volunteers
- 11 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
HIV-1 Infection
Study to Evaluate Switching to Elvitegravir/Cobicistat/Emtricitabine/Tenofovir Alafenamide (E/C/F/TAF) Fixed Dose Combination (FDC) in Virologically-Suppressed HIV-1 Infected Adults Harboring the Archived Isolated NRTI Resistance Mutation M184V/M184I
The primary objective of the study is to evaluate the efficacy of elvitegravir/cobicistat/emtricitabine/tenofovir alafenamide (E/C/F/TAF) fixed-dose combination (FDC) after switching from a stable regimen consisting of…
- Trial name
- NCT02616029
- Testing
- E/C/F/TAF
- Where
- 21 sites in United States, France and 3 more
- Volunteers
- 66 people
- Sponsor
- Gilead Sciences
Non-small Cell Lung Cancer
An Open-label Study of Encorafenib + Binimetinib in Patients With BRAFV600-mutant Non-small Cell Lung Cancer
This is an open-label, multicenter, non-randomized, Phase 2 study to determine the safety, tolerability and efficacy of encorafenib given in combination with binimetinib in patients with BRAFV600E-mutant metastatic non-small cell…
- Trial name
- NCT03915951
- Testing
- encorafenib, binimetinib
- Where
- 143 sites in United States, Italy and 3 more
- Volunteers
- 98 people
- Sponsor
- Pfizer