Clinical trials: Gene Mutations
Dilated Cardiomyopathy
Observational Study of Natural History of BAG3 Gene Mutation-Associated Dilated Cardiomyopathy in Chinese Adults
This is a multicentre, prospective cohort study designed to elucidate the natural history of dilated cardiomyopathy (DCM) associated with specific gene mutations in Chinese patients.
- Trial name
- NCT07646600
- Testing
- Observational, None intervention
- Where
- 3 sites in China
- Volunteers
- 10 people
- Sponsor
- AstraZeneca
Breast Cancer
A Non-interventional Prospective Study of Early HER2-negative High-risk Breast Cancer and BRCA1/2 Mutations Prevalence in RussiA
(Neo)adjuvant treatment approaches and outcomes
- Trial name
- ERA (NCT05939128)
- Where
- 19 sites in Russia
- Volunteers
- 625 people
- Sponsor
- AstraZeneca
Non Small Cell Lung Cancer
Study of BEBT-109 in Subjects With Non-Small Cell Lung Cancer Carrying EGFR Exon 20 Insertion Mutations
This is a multicenter, open Phase II clinical study to evaluate the efficacy, safety, and pharmacokinetic characteristics of BEBT-109 combined with injectable pemetrexed disodium and carboplatin or cisplatin injection as…
- Trial name
- NCT06514027
- Testing
- BEBT-109 Capsules, Pemetrexed Disodium for Injection, Carboplatin Injection
- Where
- China
- Volunteers
- 30 people
- Sponsor
- BeBetter Med Inc
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
Breast Cancer, Endometrial Cancer
A Phase 1b/2 Study of Serabelisib in Combination With Canagliflozin in Patients With Advanced Solid Tumors
This study aims to test the hypothesis that combining serabelisib, a PI3K alpha isoform inhibitor, with an SGLT2 inhibitor, canagliflozin will improve efficacy in the treatment of patients with advanced solid tumors.
- Conditions
- Breast Cancer, Endometrial Cancer, Lung Cancer, Colo-rectal Cancer
- Trial name
- NCT04073680
- Testing
- Serabelisib, Canagliflozin 300mg
- Volunteers
- 60 people
- Sponsor
- Petra Pharma
Attention Deficit Hyperactivity Disorder
PART A: Efficacy and Safety of AEVI-001 in Children and Adolescents With ADHD and With mGluR Mutations
This is PART A of a 2-part, 6-week, double-blind, dose-optimization, parallel-group study in children and adolescents (ages 6-17 years) with ADHD with and without CNVs in specific genes implicated in glutamatergic signaling and…
- Trial name
- NCT03265119
- Testing
- AEVI-001
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Familial Amyotrophic Lateral Sclerosis
Safety, Tolerability, and Activity Study of ISIS SOD1Rx to Treat Familial Amyotrophic Lateral Sclerosis (ALS) Caused by SOD1 Gene Mutations
This study will test the safety, tolerability and pharmacokinetics of single doses of ISIS 333611 administered into the spinal canal as 12 hour infusions.
- Trial name
- SOD-1 (NCT01041222)
- Testing
- ISIS 333611
- Where
- 4 sites in United States
- Volunteers
- 33 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Advanced Non-small Cell Lung Cancer, HER2 Mutation
A Study to Learn More About How Well Sevabertinib Works and How Safe it is Compared With Standard Treatment, in Participants Who Have Advanced Non-small Cell Lung Cancer (NSCLC) With Mutations of the Human Epidermal Growth Factor Receptor 2 (HER2)
Researchers are looking for a better way to treat people who have advanced non-small cell lung cancer (NSCLC) with specific genetic changes called human epidermal growth factor receptor 2 (HER2) mutations.
- Trial name
- SOHO-02 (NCT06452277)
- Testing
- Sevabertinib, Pembrolizumab, Cisplatin
- Where
- 279 sites in United States, Argentina and 34 more
- Volunteers
- 444 people
- Sponsor
- Bayer
Amyotrophic Lateral Sclerosis
A Study to Assess the Safety, Tolerability, and Effect on Disease Progression of BIIB105 in Participants With Amyotrophic Lateral Sclerosis (ALS) and Participants With the ALS Ataxin-2 (ATXN2) Genetic Mutation
The ALSpire Study is a clinical trial evaluating the investigational drug BIIB105 in adults living with amyotrophic lateral sclerosis (ALS). The ALSpire Study consists of two parts: Part 1: 6-month placebo-controlled study.
- Trial name
- ALSpire (NCT04494256)
- Testing
- BIIB105
- Where
- 17 sites in United States, Canada and 2 more
- Volunteers
- 99 people
- Sponsor
- Biogen
Solid Cancers, BRCA Mutation
A PARG Inhibitor DAT-2645 Monotherapy in Patients with Advanced/Metastatic Solid Tumors Harboring BRCA1/2 Loss of Function Alterations And/or Other Defects in the DDR Pathway
The primary objective of the study is to evaluate the safety, tolerability, PK, PD, and prilimary efficacy of a PARG inhibitor DAT-2645 in patients with advanced/metastatic solid tumors harboring BRCA1/2 loss of function…
- Conditions
- Solid Cancers, BRCA Mutation, HRD Cancer, Breast Cancer
- Trial name
- NCT06614751
- Testing
- DAT-2645 tablet
- Where
- 2 sites in China
- Volunteers
- 112 people
- Sponsor
- Danatlas Pharmaceuticals Co., Ltd
Monogenic Obesity
A Study Evaluating Mibavademab Treatment of Obesity Due to Leptin (LEP) Gene Mutations in Children, Adolescents and Adults
This study is researching an experimental drug called mibavademab. The study is focused on patients with a condition called monogenic obesity.
- Trial name
- NCT07220772
- Testing
- Mibavademab
- Where
- 3 sites in Germany, Turkey (Türkiye)
- Volunteers
- 4 people
- Sponsor
- Regeneron Pharmaceuticals
HER2-ve Metastatic Breast Cancer, Germline BRCA1/2 Mutations
To Study Clinical Effectiveness and Safety of Olaparib Monotherapy in Metastatic Breast Cancer Patients.
This open-label, multi-centre phase IIIb study will assess the effectiveness, benefits and potential harms in the use of olaparib monotherapy treatment for patients with HER2-ve metastatic breast cancer associated with germline…
- Conditions
- HER2-ve Metastatic Breast Cancer, Germline BRCA1/2 Mutations, Somatic BRCA1/2 Mutations
- Trial name
- NCT03286842
- Testing
- Olaparib
- Where
- 123 sites in United States, Bulgaria and 13 more
- Volunteers
- 256 people
- Sponsor
- AstraZeneca
Frontotemporal Dementia
A Phase 3 Study to Evaluate Efficacy and Safety of AL001 in Frontotemporal Dementia (INFRONT-3)
A phase 3 double blind, placebo controlled study evaluating the efficacy and safety of AL001 in participants at risk for or with frontotemporal dementia due to heterozygous mutations in the progranulin gene.
- Trial name
- NCT04374136
- Testing
- Part 1 Blinded - AL001, Part 2 (OLE Treatment) - AL001
- Where
- 44 sites in United States, Argentina and 14 more
- Volunteers
- 119 people
- Sponsor
- Alector Inc.
Advanced Solid Tumor, RAF Mutation
Study of DCC-3084 in Participants With Advanced Malignancies Driven by the Mitogen-Activated Protein Kinase (MAPK) Pathway
This is a multicenter clinical trial to evaluate DCC-3084 alone or in combination with other cancer therapies in participants with advanced cancers. Module A will enroll participants with advanced/metastatic solid tumors.
- Conditions
- Advanced Solid Tumor, RAF Mutation, RAS Mutation, NF1 Mutation
- Trial name
- NCT06287463
- Testing
- DCC-3084
- Where
- 9 sites in United States
- Volunteers
- 29 people
- Sponsor
- Deciphera Pharmaceuticals, LLC
Advanced or Metastatic Solid Tumors
A Study to Assess Naporafenib (ERAS-254) Administered With Trametinib in Patients With RAS Q61X Mutations
To evaluate the efficacy of naporafenib administered with trametinib in patients with rat sarcoma viral oncogene (RAS) Q61X solid tumors To evaluate the safety and tolerability of naporafenib administered with trametinib in…
- Trial name
- SEACRAFT-1 (NCT05907304)
- Testing
- Naporafenib, Trametinib
- Where
- 29 sites in United States, Australia and 3 more
- Volunteers
- 86 people
- Sponsor
- Erasca, Inc.
Detection and Genotyping of Factor V and Factor II Point Mutations
Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA
As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites.
- Trial name
- NCT00959504
- Volunteers
- 275 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
Non Small Cell Lung Cancer
A Multinational Study Assessing an Oral EGFR Inhibitor, DZD6008 in Patients Who Have Advanced NSCLC With EGFR Mutations (TIAN-SHAN1)
This study is designed to evaluate safety and anti-tumor activity of DZD6008 in patients with advanced NSCLC with EGFR mutations.
- Trial name
- NCT06905197
- Testing
- DZD6008, Sunvozertinib
- Where
- 5 sites in United States, Australia
- Volunteers
- 140 people
- Sponsor
- Dizal Pharmaceuticals
Primary Ciliary Dyskinesia
Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
This is the first-in-human study with RCT1100 and is designed to provide initial safety and tolerability data for future clinical studies.
- Trial name
- NCT05737485
- Testing
- RCT1100
- Where
- 4 sites in United States, Australia and 2 more
- Volunteers
- 9 people
- Sponsor
- ReCode Therapeutics
Sickle Cell Disease, Vaso-occlusive Pain Episode in Sickle Cell Disease
A Study to Assess the Safety and Efficacy of Inclacumab in Participants With Sickle Cell Disease Experiencing Vaso-occlusive Crises
This Phase 3 study will assess the safety and efficacy of inclacumab, a P-selectin inhibitor, in reducing the frequency of vaso-occlusive crises (VOCs) in approximately 240 adult and adolescent participants (≥ 12 years of age)…
- Conditions
- Sickle Cell Disease, Vaso-occlusive Pain Episode in Sickle Cell Disease, Vaso-occlusive Crisis
- Trial name
- NCT04935879
- Testing
- Inclacumab
- Where
- 58 sites in United States, Brazil and 10 more
- Volunteers
- 241 people
- Sponsor
- Pfizer
Non-Small Cell Lung Cancer
Phase II Single Arm Study of AZD9291 to Treat NSCLC Patients in Asia Pacific
A Phase II, Open Label, Single-arm Study to Assess the Safety and Efficacy of AZD9291 in Asia Pacific Patients with Locally Advanced/Metastatic Non-Small Cell Lung Cancer whose Disease has Progressed with Previous Epidermal…
- Trial name
- AURA17 (NCT02442349)
- Testing
- AZD9291
- Where
- 30 sites in Australia, China and 1 more
- Volunteers
- 171 people
- Sponsor
- AstraZeneca