Clinical trials: Genetic Mutation
Breast Cancer
A Phase Ib Study of HS-10352 Plus Fulvestrant in Patients With Advanced Breast Cancer
HS-10352 is a highly potent and selective small molecule inhibitor of phosphoinositide 3-kinase (p110α). The purpose of this study is to assess the safety, tolerability, pharmacokinetics (PK), and efficacy of HS-10352 plus…
- Trial name
- NCT05504213
- Testing
- HS-10352 combined with fulvestrant (Stage 1), HS-10352 combined with fulvestrant (Stage 2)
- Where
- China
- Volunteers
- 224 people
- Sponsor
- Jiangsu Hansoh Pharmaceutical Co., Ltd.
Amyotrophic Lateral Sclerosis Associated With a SOD1 Gene Mutation
Study to Learn If Tofersen (BIIB067) Can Delay ALS Symptoms and About Its Safety in Adults With a SOD1 Gene Mutation Who Have Not Yet Developed ALS Symptoms
In this study, researchers will learn more about the effects of a drug called tofersen, also known as BIIB067 and QALSODY®, in adults with amyotrophic lateral sclerosis (ALS) who have a superoxide dismutase 1 (SOD1) gene…
- Trial name
- ATLAS (NCT04856982)
- Testing
- Tofersen
- Where
- 32 sites in United States, Australia and 12 more
- Volunteers
- 158 people
- Sponsor
- Biogen
Nephrotic Syndrome
Study of The Association of Mutations in The NPHS2 Gene and Nephrotic Syndrome in Children and Adults in Middle East
Nephrotic syndrome (NS) represents one of the most common diagnoses in pediatric and adult nephrology, with a prevalence of 16 per 100,000 children and 3 per 100,000 adults in Western countries.
- Trial name
- NCT03326037
- Testing
- Genotyping of the NPHS2 variant rs61747728
- Where
- Kuwait
- Volunteers
- 150 people
- Sponsor
- AHMED ABDULQADER HAMMOUDA ABOU SHALL
Non Small Cell Lung Cancer, EGFR T790M
Evaluation of Clinical Performance and IVD Test of LifeOS Digital PCR Liquid Biopsy Kits for EGFR T790M Mutation
Liquid biopsy plays a pivotal role in cancer therapeutics, encompassing critical applications such as early cancer detection, disease progression monitoring, and tailored treatment plan formulation, heralded as a pivotal avenue…
- Trial name
- NCT06573073
- Where
- Taiwan
- Volunteers
- 300 people
- Sponsor
- LifeOS Genomics Corporation
Autosomal Dominant Alzheimers Disease, Early Onset Alzheimer Disease
A Study of Donanemab, RG6289, or the Combination of Donanemab and RG6289 in Presenilin 1 (PSEN1) E280A Mutation Carriers for the Treatment of Autosomal-Dominant Alzheimer's Disease
The study will be conducted in 2 blinded parts (Part 1 and Part 2). In Part 1, study participants who are mutation carriers will receive active donanemab and non-mutation carriers will receive placebo-donanemab for up to 18…
- Conditions
- Autosomal Dominant Alzheimers Disease, Early Onset Alzheimer Disease, Alzheimers Disease
- Trial name
- NCT06996730
- Testing
- Donanemab, RG6289
- Where
- Colombia
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Banner Health
Progressive Supranuclear Palsy, Corticobasal Degeneration
A Study to Evaluate the Safety, Tolerability and Pharmacodynamics of NIO752 in Primary Tauopathies
This is a phase II study intended to evaluate the safety, tolerability and pharmacodynamics of NIO752 in participants with primary tauopathies.
- Conditions
- Progressive Supranuclear Palsy, Corticobasal Degeneration, Frontotemporal Lobar Degeneration, Tauopathies
- Trial name
- NCT07868328
- Testing
- NIO752
- Volunteers
- 48 people
- Sponsor
- Novartis Pharmaceuticals
GIST
Non-Interventional Retrospective Correlation Of Tumor Mutational Status To Clinical Benefit Of GIST Patients Treated With Sunitinib
Retrospective correlation of clinical outcomes data with mutational status in GIST subjects treated with sunitinib.
- Trial name
- NCT01459757
- Testing
- non-interventional
- Where
- 36 sites in United States, Australia and 14 more
- Volunteers
- 322 people
- Sponsor
- Pfizer
Breast Cancer Metastatic, BRCA 1 Gene Mutation
A Phase II Study to Assess the Efficacy and Safety of SC10914 in the Metastatic Breast Cancer Patients
This open label, multi-centre phase II study will assess the efficacy and safety of single agent SC10914 in metastatic breast cancer patients with gBRCA 1/2 mutations.
- Conditions
- Breast Cancer Metastatic, BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
- Trial name
- NCT04556292
- Testing
- SC10914
- Where
- China
- Volunteers
- 78 people
- Sponsor
- Jiangxi Qingfeng Pharmaceutical Co. Ltd.
Carcinoma, Non-Small-Cell Lung
Neoadjuvant Toripalimab for Clinically Stage II-IIIB Resectable Non-small Cell Lung Cancer with EGFR Mutation and PD-L1 Positive Expression
The study is a prospective, open label, multicenter, single arm Phase II clinical trial, aiming to explore the use of neoadjuvant Toripalimab for clinically stage II-IIIB NSCLC patients with EGFR mutations and PD-L1 positive…
- Trial name
- TOPLINE (NCT06269211)
- Testing
- Toripalimab
- Where
- 2 sites in China
- Volunteers
- 29 people
- Sponsor
- Ruijin Hospital
Advanced Non Small Cell Lung Cancer, Advanced (Inoperable) Non Small Cell Lung Cancer
AZD9291 First Time In Patients Ascending Dose Study
This study will treat patients with advanced NSCLC who have already received at least one course of specific anti-cancer treatment but the tumour has started to re-grow following that treatment.
- Trial name
- AURA (NCT01802632)
- Testing
- AZD9291
- Where
- 45 sites in United States, Australia and 8 more
- Volunteers
- 603 people
- Sponsor
- AstraZeneca
Hemoglobinuria, Paroxysmal
The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH)
This study is designed to better understand the molecular biology of paroxysmal nocturnal hemoglobinuria (PNH) and to determine if prion protein (PrP) functions in long term hematopoietic stem cell renewal.
- Trial name
- NCT00721864
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of Utah
EGF-R Positive Non-Small Cell Lung Cancer, Non Small Cell Lung Cancer
Study to Evaluate SBRT for EGFR Mutant NSCLC Patients Receiving Osimertinib (CULTRO)
Phase II Study to Evaluate the Impact of SBRT (Stereotactic Body Radiation Therapy) and/or SRS (Stereotactic Radiosurgery) on Oligoresidual Disease in EGFR Mutation Patients Treated with Osimertinib as First-Line Systemic…
- Conditions
- EGF-R Positive Non-Small Cell Lung Cancer, Non Small Cell Lung Cancer, EGFR Exon 19 Deletion, EGFR Exon 21 Mutation
- Trial name
- CULTRO (NCT05998993)
- Testing
- Stereotactic Body Radiation Therapy SBRT
- Where
- Colombia
- Volunteers
- 35 people
- Sponsor
- Centro de Tratamiento e Investigación sobre Cáncer, Luis Carlos Sarmiento Angulo
Ovarian Neoplasms, Fallopian Tube Neoplasms
Efficacy and Safety of Niraparib Combined With Bevacizumab in Platinum Refractory/Resistant Recurrent Ovarian Cancer
Niraparib is an oral, potent and highly selective PARP1/2 inhibitor. It can be used as a single drug in HRD positive ovarian cancer patients for multi-line therapy.
- Conditions
- Ovarian Neoplasms, Fallopian Tube Neoplasms, Endocrine Gland Neoplasms, Neoplasms by Site
- Trial name
- AVANIRA3 (NCT04556071)
- Testing
- Niraparib, Bevacizumab
- Where
- China
- Volunteers
- 32 people
- Sponsor
- Xiaoxiang Chen
BRCA1 Mutation, Breast Cancer
Studying the Effect of Denosumab on Preventing Breast Cancer in Women With a BRCA1 Germline Mutation
This phase III trial compares denosumab to placebo for the prevention of breast cancer in women with a BRCA1 germline mutation. A germline mutation is an inherited gene change which, in the BRCA1 gene, is associated with an…
- Conditions
- BRCA1 Mutation, Breast Cancer, Breast Diseases, Breast Neoplasms
- Trial name
- BRCA-P (NCT04711109)
- Testing
- Denosumab, Quality-of-Life Assessment
- Where
- 47 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Alliance for Clinical Trials in Oncology
Recessive Dystrophic Epidermolysis Bullosa
Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease caused by mutations in the COL7A1 gene that encodes for type VII collagen (C7), the major component of anchoring fibrils…
- Trial name
- NCT03392909
- Testing
- Gentamicin
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Southern California
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
FGFR2 Amplification, FGFR2 Gene Mutation
REFOCUS: A First-in-Human Study of Highly Selective FGFR2 Inhibitor, RLY-4008, in Patients With ICC and Other Advanced Solid Tumors
This is a Phase 1/2, open-label, FIH study designed to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PDy), and antineoplastic activity of RLY-4008, a potent and highly selective FGFR2 inhibitor, in…
- Conditions
- FGFR2 Amplification, FGFR2 Gene Mutation, FGFR2 Gene Fusion/Rearrangement, FGFR2 Gene Translocation
- Trial name
- NCT04526106
- Testing
- RLY-4008
- Where
- 48 sites in United States, Australia and 11 more
- Volunteers
- 490 people
- Sponsor
- Elevar Therapeutics
Melanoma, Skin Cancer
XL888 + Vemurafenib + Cobimetinib for Unresectable BRAF Mutated Stage III/IV Melanoma
The main purpose of this study is to determine the maximum tolerated dose (MTD) and recommended phase II dose (RP2D) of XL888 when administered orally with vemurafenib plus cobimetinib in participants with BRAF V600 mutated…
- Trial name
- NCT02721459
- Testing
- XL888, Vemurafenib, Cobimetinib
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
BRAF V600 Mutation, Unresectable Melanoma
Hepatic Impairment Study of Encorafenib in Combination With Binimetinib in BRAF Melanoma
Encorafenib in combination with binimetinib have been approved in USA, Europe, Australia, Japan and Switzerland for the treatment of adult patients with unresectable or metastatic melanoma with BRAF V600 mutation.
- Conditions
- BRAF V600 Mutation, Unresectable Melanoma, Metastatic Melanoma, Hepatic Impairment
- Trial name
- NCT04759846
- Testing
- Encorafenib + Binimetinib
- Where
- 7 sites in Czechia, Italy and 1 more
- Sponsor
- Pierre Fabre Medicament
NSCLC Stage IV Without EGFR/ALK Mutation
A Study on Exploring the Abscopal Effect Induced by Different Radioimmunotherapy Combination Patterns in the Treatment of Non-Small Cell Lung Cancer With Multiple Metastases
It is planned to carry out a multicenter umbrella study to find the optimal organ combination and the best radioimmunotherapy combination pattern, so as to improve the survival of NSCLC patients with multiple metastases.
- Trial name
- NCT06947694
- Testing
- chemotherapy + PD-1 inhibitors
- Where
- China
- Volunteers
- 427 people
- Sponsor
- Xinqiao Hospital of Chongqing
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