Clinical trials: Gene Mutations
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
Non-small Cell Lung Cancer
A Study of Tepotinib Plus Osimertinib in Osimertinib Relapsed MET Amplified NSCLC (INSIGHT 2)
This study was to assess the antitumor activity, safety, tolerability, and pharmacokinetics (PK) of the Mesenchymal-epithelial Transition Factor (MET) inhibitor tepotinib combined with the 3rd generation EGFR inhibitor…
- Trial name
- NCT03940703
- Testing
- Tepotinib, Osimertinib
- Where
- 179 sites in United States, Belgium and 15 more
- Volunteers
- 140 people
- Sponsor
- EMD Serono Research & Development Institute, Inc.
Transthyretin Gene Mutations, Transthyretin Amyloidosis
Transthyretin Amyloidosis Outcome Survey (THAOS)
THAOS is a global, multi-center, longitudinal observational survey open to all patients with transthyretin amyloidosis (ATTR), including ATTR-PN (polyneuropathy), ATTR-CM (cardiomyopathy) and wild-type ATTR-CM.
- Trial name
- THAOS (NCT00628745)
- Testing
- None. Observational Study.
- Where
- 113 sites in United States, Argentina and 23 more
- Volunteers
- 6,718 people
- Sponsor
- Pfizer
Gastrointestinal Malignancies
Lurbinectedin in Patients With Advanced Gastrointestinal Malignancies With DNA Repair Mutations
The purpose of this research is to evaluate the activity and safety of lurbinectedin in adult patients with advanced Gastrointestinal Malignancies with DNA repair mutations.
- Trial name
- NCT05229588
- Testing
- Lurbinectedin 4 MG Injection [Zepzelca]
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- HonorHealth Research Institute
Carcinoma, Non-Small-Cell Lung, Lung Diseases
Sitravatinib Plus Pembrolizumab in Patients With Advanced Treatment-Naïve PD-L1+ Non-Squamous NSCLC
This is a multicohort phase 2 study to evaluate the efficacy of pembrolizumab combined with the investigational drug sitravatinib in the frontline treatment of advanced, non-squamous PD-L1 positive NSCLC.
- Conditions
- Carcinoma, Non-Small-Cell Lung, Lung Diseases, Lung Neoplasms, Metastatic Lung Non-Small Cell Carcinoma
- Trial name
- NCT04925986
- Testing
- Sitravatinib, Pembrolizumab
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Sarah Goldberg
Anticancer Treatment
AZD9291 (Osimertinib) Versus Platinum-Based Doublet-Chemotherapy in Locally Advanced or Metastatic Non-Small Cell Lung Cancer
A Phase III, Open Label, Randomized Study of Osimertinib versus Platinum-Based Doublet Chemotherapy for Patients with Locally Advanced or Metastatic Non-Small Cell Lung Cancer whose Disease has Progressed with Previous Epidermal…
- Trial name
- AURA3 (NCT02151981)
- Testing
- Chemotherapy, Cross-over to Osimertinib
- Where
- 150 sites in United States, Australia and 16 more
- Volunteers
- 421 people
- Sponsor
- AstraZeneca
Retinitis Pigmentosa, Usher Syndrome Type 2
Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
The purpose of this study is to evaluate the efficacy safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- NCT05158296
- Testing
- Ultevursen
- Where
- 15 sites in United States, Germany and 2 more
- Volunteers
- 7 people
- Sponsor
- Laboratoires Thea
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing Afatinib as Potentially Targeted Treatment in Cancers With EGFR Genetic Changes (MATCH - Subprotocol A)
This phase II MATCH treatment trial tests how well afatinib works in treating patients with cancer that has certain genetic changes. Afatinib is in a class of medications called kinase inhibitors.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm
- Trial name
- NCT06385483
- Testing
- Afatinib, Biopsy Procedure, Biospecimen Collection
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- National Cancer Institute (NCI)
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
Chronic Myelomonocytic Leukemia (CMML)
Cobimetinib in Newly Diagnosed or HMA-treated CMML Patients With RAS Pathway Mutations
This is an open-label, nonrandomized phase 2 trial to assess the efficacy of cobimetinib in RAS pathway activated CMML. All eligible patients will be treated daily with cobimetinib in 28-day cycles.
- Trial name
- CONCERTO (NCT04409639)
- Testing
- Cobimetinib
- Where
- 3 sites in United States
- Volunteers
- 14 people
- Sponsor
- University of Utah
Cancer, Skin Fibroblasts
Nicotinamide Riboside on Mitochondrial Function in Li-Fraumeni Syndrome
Background: Nicotinamide riboside (NR) is a vitamin B3 dietary supplement. It may help improve muscle function, that may in turn may improve a person s exercise capacity.
- Conditions
- Cancer, Skin Fibroblasts, Muscle Weakness
- Trial name
- NCT03789175
- Testing
- Nicotinamide Riboside (NR)
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Advanced Cholangiocarcinoma, FGFR2 Gene Mutation
A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma
This is a multi-center, open label, single arm phase II study evaluating BGJ398 (infigratinib) anti-tumor activity in advanced or metastatic cholangiocarcinoma patients with fibroblast growth factor receptor (FGFR) genetic…
- Trial name
- NCT02150967
- Testing
- BGJ398 (infigratinib)
- Where
- 37 sites in United States, Belgium and 9 more
- Volunteers
- 143 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Metastatic Colorectal Cancer, KRAS Gene Mutation
Onvansertib in Combination With FOLFIRI and Bevacizumab for Second Line Treatment of Metastatic Colorectal Cancer Patients With a KRAS Mutation
The purpose of the Phase 1b/2 study is to determine the safety and efficacy of Onvansertib, administered orally, daily on Day 1-5 and Day 15-19 of each 28-day cycle, in combination with FOLFIRI + Bevacizumab, as second-line…
- Trial name
- NCT03829410
- Testing
- Onvansertib, Bevacizumab, FOLFIRI
- Where
- 7 sites in United States
- Volunteers
- 68 people
- Sponsor
- Cardiff Oncology
Alpha-1 Antitrypsin Deficiency (AATD), Pi*ZZ, Pi*SZ, Pi*Null, Another Rare Phenotype/Genotype Known to be Associated With Either Low or Functionally Impaired AAT Including F or I Mutations
Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency
This is a Phase 2, multicenter, double-blind, randomized (1:1), placebo-controlled, 12-week, proof-of-concept study to evaluate the safety and tolerability as well as the mechanistic effect of oral administration of alvelestat…
- Conditions
- Alpha-1 Antitrypsin Deficiency (AATD), Pi*ZZ, Pi*SZ, Pi*Null, Another Rare Phenotype/Genotype Known to be Associated With Either Low or Functionally Impaired AAT Including F or I Mutations, Emphysema or COPD
- Trial name
- ATALANTa (NCT03679598)
- Testing
- Alvelestat (MPH966)
- Where
- 10 sites in United States
- Volunteers
- 63 people
- Sponsor
- University of Alabama at Birmingham
Choroideremia, CHM (Choroideremia) Gene Mutations
Safety and Dose-escalation Study of AAV2-hCHM in Participants With CHM (Choroideremia) Gene Mutations
This clinical study evaluates the safety and tolerability of AAV2-hCHM in participants with Choroideremia gene mutations.
- Trial name
- NCT02341807
- Testing
- AAV2-hCHM
- Where
- 3 sites in United States
- Volunteers
- 15 people
- Sponsor
- Spark Therapeutics, Inc.
Bladder Cancer
Dovitinib in BCG Refractory Urothelial Carcinoma With FGFR3 Mutations or Over-expression
This trial will assess the 6-month complete response rate and toxicity profile of oral dovitinib therapy in BCG-refractory urothelial carcinoma patients with tumors with FGFR3 mutations or over-expression who are ineligible for…
- Trial name
- NCT01732107
- Testing
- Dovitinib
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Noah Hahn, M.D.
Lung Cancer
BELIEF (Bevacizumab and ErLotinib In EGFR Mut+ NSCLC)
Rationale: Advanced non-small-cell lung cancer (NSCLC) patients harbouring epidermal growth factor receptor (EGFR) mutations (del19 or L858R) show an impressive progression-free survival between 9 and 14 months when treated with…
- Trial name
- BELIEF (NCT01562028)
- Testing
- Erlotinib, Bevacizumab
- Where
- 48 sites in France, Germany and 6 more
- Volunteers
- 109 people
- Sponsor
- ETOP IBCSG Partners Foundation
Mitochondrial Diseases
Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
To show that oral CoQ10 is a safe and effective treatment for children with inborn errors of mitochondrial energy metabolism due to defects in specific respiratory chain (RC) complexes or mitochondrial DNA (mtDNA) mutations, and…
- Trial name
- NCT00432744
- Testing
- CoenzymeQ10
- Where
- 3 sites in United States, Canada
- Volunteers
- 24 people
- Sponsor
- University of Florida
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing Copanlisib as a Potential Targeted Treatment in Cancers With PIK3CA Mutations (MATCH-Subprotocol Z1F)
This phase II MATCH treatment trial identifies the effects of copanlisib hydrochloride (copanlisib) in patients whose cancer has a genetic change called PIK3CA mutation.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphatic System Neoplasm, Refractory Lymphoma
- Trial name
- NCT05490771
- Testing
- Biopsy Procedure, Computed Tomography, Copanlisib Hydrochloride
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Cancer Institute (NCI)
HIV Infections
Reducing the Incidence of Nevirapine Resistance Mutations in Pregnant HIV Infected Women Who Receive Anti-HIV Drugs Prior to and After Giving Birth
The purpose of this study is to determine which of 3 different anti-HIV drug regimens given to HIV infected pregnant women during and after their pregnancies is most effective in reducing the incidence of nevirapine (NVP)…
- Trial name
- NCT00109590
- Testing
- Didanosine, enteric-coated, Lopinavir/ritonavir, Nevirapine
- Where
- 7 sites in Thailand
- Volunteers
- 175 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)