Clinical trials: Gene Mutation
Chronic Hepatitis C
Q-Trial in Patients With Hepatitis C
The goal of this study is to translate laboratory findings that Quercetin, a bioflavonoid, is safe and has antiviral activity in people with hepatitis C.
- Trial name
- Q (NCT01438320)
- Testing
- Quercetin
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Cystic Fibrosis
A Study to Evaluate GLPG2222 in Ivacaftor-treated Subjects With Cystic Fibrosis
This clinical study is a phase IIa, multi-center, randomized, double-blind, placebo-controlled, parallel group study to evaluate two doses of orally administered GLPG2222 in adult subjects with a confirmed diagnosis of CF…
- Trial name
- NCT03045523
- Testing
- GLPG2222 150 mg q.d., GLPG2222 300 mg q.d.
- Where
- 22 sites in Australia, Belgium and 4 more
- Volunteers
- 37 people
- Sponsor
- Lakefront Biotherapeutics NV
HER2 Mutant Non-small Cell Lung Cancer
A Real-World Study of Pyrotinib Maleate in the Treatment of Advanced/Metastatic Non-Small Cell Lung Cancer With Rare Mutations in HER2
At present, the main characteristics of the enrolled population in the clinical study of HER2-mutated non-small cell lung cancer are the YVMA mutation type.
- Trial name
- NCT05411276
- Testing
- Pyrotinib maleate
- Volunteers
- 15 people
- Sponsor
- Beijing Chest Hospital
Breast Cancer Stage III, HER2-positive Metastatic Breast Cancer
Evaluate BL-M17D1 in Patients w/HER2-Expressing/Mutant Advanced or Metastatic Solid Tumors
The objective of this study to evaluate the safety, tolerability, pharmacokinetics, and efficacy of BL-M17D1 in patients with HER2-Expressing or HER2-Mutant Advanced or Metastatic Solid Tumors.
- Conditions
- Breast Cancer Stage III, HER2-positive Metastatic Breast Cancer, Unresectable Breast Carcinoma, Her2-Positive
- Trial name
- NCT06714617
- Testing
- BL-M17D1
- Where
- 9 sites in United States
- Volunteers
- 3 people
- Sponsor
- SystImmune Inc.
EGFR Exon 19 Deletion Mutation, EGFR NP_005219.2:p.L858R
Erlotinib Hydrochloride With or Without Bevacizumab in Treating Patients With Stage IV Non-small Cell Lung Cancer With Epidermal Growth Factor Receptor Mutations
This randomized phase II trial studies how well erlotinib hydrochloride (Tarceva) with or without bevacizumab (Avastin) works in treating patients with stage IV non-small cell lung cancer (NSCLC) with epidermal growth factor…
- Conditions
- EGFR Exon 19 Deletion Mutation, EGFR NP_005219.2:p.L858R, Lung Non-Squamous Non-Small Cell Carcinoma, Stage IV Lung Non-Small Cell Cancer AJCC v7
- Trial name
- NCT01532089
- Testing
- Bevacizumab, Erlotinib, Erlotinib Hydrochloride
- Where
- 19 sites in United States
- Volunteers
- 88 people
- Sponsor
- Academic and Community Cancer Research United
RETT Syndrome With Proven MECP2 Mutation
Osteoporosis in RETT Syndrome
Based on our clinical observations, many girls with RETT syndrome, a severe neuro-developmental encephalopathy, suffer from osteoporosis which can appear at a very early age (before age 10) and can lead to fractures, pain and a…
- Trial name
- OSRETT (NCT02110797)
- Testing
- biological markers and evaluation of the mineral density at the lumber spine using DEXA
- Where
- France
- Volunteers
- 98 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Factor V Leiden, Prothrombin G20210A
A Single Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of CITY-FXI in Healthy Adults, Adults With FV Leiden or Prothrombin G20210A Mutation, and Adults With a History of Provoked Venous Thromboembolism
This is a first-in-human (FIH), single-center, randomized, double-blind, placebo-controlled, single ascending and multiple dose study evaluating the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of…
- Conditions
- Factor V Leiden, Prothrombin G20210A, Venous Thromboembolism (VTE)
- Trial name
- NCT07430397
- Testing
- CITY-FXI
- Where
- United Kingdom
- Volunteers
- 182 people, healthy volunteers welcome
- Sponsor
- City Therapeutics
Chronic Granulomatous Disease, Granulomatous Disease, Chronic
A Study of the Safety and Efficacy of Prime Editing (PM359) in Participants With p47phox Autosomal Recessive Chronic Granulomatous Disease (CGD )
This is an open-label, single-arm, multicenter Phase 1/2 study evaluating the safety and efficacy of gene therapy by transplantation of Prime Edited autologous CD34+ stem cells modified ex vivo (PM359) in participants with…
- Trial name
- NCT06559176
- Testing
- PM359
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 12 people
- Sponsor
- Prime Medicine, Inc.
Frontotemporal Dementia, FTD
A Study to Evaluate the Safety and Effect of AVB-101, a Gene Therapy Product, in Subjects With a Genetic Sub-type of Frontotemporal Dementia (FTD-GRN)
The goal of this clinical study is to learn about an investigational gene therapy product called AVB-101, which is designed to treat a disease called Frontotemporal Dementia with Progranulin Mutations (FTD-GRN).
- Conditions
- Frontotemporal Dementia, FTD, FTD-GRN, Dementia, Frontotemporal
- Trial name
- ASPIRE-FTD (NCT06064890)
- Testing
- Intrathalamic AAV.PGRN administration, Intrathalamic AVB-101
- Where
- 19 sites in United States, Belgium and 7 more
- Volunteers
- 18 people
- Sponsor
- AviadoBio Ltd
Cystic Fibrosis
Safety and Efficacy of Ataluren (PTC124) for Cystic Fibrosis
In some participants with cystic fibrosis (CF), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the cystic fibrosis transmembrane regulator (CFTR) protein.
- Trial name
- NCT00237380
- Testing
- Ataluren
- Where
- Israel
- Volunteers
- 24 people
- Sponsor
- PTC Therapeutics
Advanced Solid Malignancies, Breast Cancer - ER+, HER2 -
Phase I, Dose Study to Look at the Safety and Pharmacokinetics of AZD8835 in Patients With Advanced Solid Tumours
First time in patients study of AZD8835. The study has four parts. Part A AZD8835 is administered as a single agent in a multiple ascending dose escalation phase to investigate dose level for monotherapy.
- Conditions
- Advanced Solid Malignancies, Breast Cancer - ER+, HER2 -, Breast Cancer - ER+, HER2-, PIK3CA Gene Mutation
- Trial name
- NCT02260661
- Testing
- AZD8835, AZD8835 in combination with fulvestrant
- Where
- 9 sites in United States, United Kingdom
- Volunteers
- 20 people
- Sponsor
- AstraZeneca
Chondrosarcomas, Cartilage Tumours
Diagnostic and Therapeutic Targets in Cartilaginous Tumours
This study, "Finding new diagnostic and therapeutic targets in cartilaginous tumours," focuses on improving the diagnosis, prognostic stratification, and treatment options for chondroid tumours, particularly chondrosarcoma.
- Trial name
- NCT07315542
- Testing
- Tumour tissue analysis, Molecular validation, Liquid biopsy analysis
- Where
- Czechia
- Volunteers
- 300 people
- Sponsor
- St. Anne's University Hospital Brno, Czech Republic
Lung Adenocarcinoma Stage III, EGFR Gene Mutation
Neoadjuvant Afatinib Therapy for Potentially Resectable Stage III EGFR Mutation-Positive Lung Adenocarcinoma
In general, for patients with stage I or II disease, surgery provides the best chance for cure.EGFR tyrosine kinase inhibitors(TKIs)are standard first-line treatment for EGFR-mutant advanced NSCLC.Afatinib was a 2nd-generation…
- Trial name
- NCT04201756
- Testing
- Afatinib
- Where
- China
- Volunteers
- 47 people
- Sponsor
- Shanghai Pulmonary Hospital, Shanghai, China
Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy
Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD).
- Trial name
- NCT07778641
- Testing
- Whole exome sequencing.
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Sohag University
Coagulation Disorders
Evaulation of Interaction Between Herbal Products and Anticoagulants
The purpose of this study is to determine if the use of herbal products interferes with normal anticoagulation, leading to either excessive thinning of the blood and bleeding problems or inadequate thinning of the blood and…
- Trial name
- NCT00071682
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Cystic Fibrosis
The Relationship Between CFTR Gene Mutations and Exercise Capacity
This study will explore the effect of mutation severity on exercise capacity. Through a better understanding of the association between mutation severity and exercise capacity, clinicians will be more able to predict a given…
- Trial name
- NCT05157646
- Testing
- Fitness tracker
- Where
- United States
- Sponsor
- Virginia Commonwealth University
Polycythemia Vera, Essential Thrombocythaemia
Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
Philadelphia-negative myeloproliferative neoplasms (MPNs) occur sporadically and are due to somatic mutations in the JAK2 (Janus kinase 2), CALR (calreticulin) and MPL (thrombopoietin receptor) genes.
- Conditions
- Polycythemia Vera, Essential Thrombocythaemia, Myelofibrosis
- Trial name
- NCT06923670
- Testing
- NGS testing, NGS analysis for mutations in genes involved in familial predisposition to hematological malignancies
- Volunteers
- 496 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Solid Tumors, Triple-Negative Breast Cancer
Study of the Glutaminase Inhibitor CB-839 in Solid Tumors
Many tumor cells, in contrast to normal cells, have been shown to require the amino acid glutamine to produce energy for growth and survival.
- Conditions
- Solid Tumors, Triple-Negative Breast Cancer, Non Small Cell Lung Cancer, Renal Cell Carcinoma
- Trial name
- NCT02071862
- Testing
- CB-839, Pac-CB, CBE
- Where
- 13 sites in United States
- Volunteers
- 210 people
- Sponsor
- Calithera Biosciences, Inc
Virus-HIV
HIV A6 Genome In ART Unsuccessful Patients On DOR
The aim of the study is to evaluate the efficacy of Doravirine (DOR) in the second-line therapy for patients infected with HIV-1 sub-subtype A6 and its derivatives and having the mutations to previously used drugs
- Trial name
- HIV-A6-DOR (NCT05322083)
- Testing
- Doravirine
- Volunteers
- 60 people
- Sponsor
- Gamaleya Research Institute of Epidemiology and Microbiology, Health Ministry of the Russian Federation
Cancer, Melanoma
Study to Investigate the Objective Response Rate of Dabrafenib in Combination With Trametinib in Subjects With BRAF V600 Mutation-Positive Melanoma
This was a single-arm, open-label, multi-center, Phase II study to evaluate dabrafenib and trametinib combination therapy in subjects with BRAF V600 mutation-positive, unresectable or metastatic Acral lentiginous or cutaneous…
- Trial name
- NCT02083354
- Testing
- Dabrafenib, Trametinib
- Where
- 13 sites in China, Hong Kong and 3 more
- Volunteers
- 77 people
- Sponsor
- Novartis Pharmaceuticals
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