Clinical trials: Mutation Abnormality
Aniridia
A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia
This is a Phase 2, multicenter, open-label study evaluating the overall systemic and ocular safety profile of ataluren in nonsense mutation aniridia as determined by the incidences of treatment-emergent adverse events (TEAEs) as…
- Trial name
- NCT04117880
- Testing
- Ataluren
- Sponsor
- PTC Therapeutics
Colorectal Neoplasms
A Study of Olomorasib (LY3537982) in Participants With Advanced Colorectal Cancer and a KRAS G12C Mutation
The main purpose of this study is to evaluate how well olomorasib is tolerated and what side effects may occur when combined with other interventions in participants with Kirsten rat sarcoma viral oncogene homolog (KRAS)…
- Trial name
- NCT07814417
- Testing
- Olomorasib, Cetuximab, Oxaliplatin
- Where
- 18 sites in United States, China and 1 more
- Volunteers
- 50 people
- Sponsor
- Eli Lilly and Company
Metastatic Colorectal Cancer, mCRC
The Efficacy and Safety of HLX208 in Metastatic Colorectal Cancer (mCRC) With BRAF V600E Mutation
The purpose of this study was to assess efficacy, safety and PK in metastatic colorectal cancer (mCRC) given HLX208 (BRAF V600E inhibitor).
- Trial name
- NCT05127759
- Testing
- HLX208
- Where
- China
- Volunteers
- 25 people
- Sponsor
- Shanghai Henlius Biotech
NSCLC
Study of FURMONERTINIB in Patients With NSCLC Having Exon 20 Insertion Mutation
This is a phase Ⅰb multi-center clinical study. To explore the preliminary efficacy and safety of Furmonertinib Mesilate at different doses in locally advanced or metastatic NSCLC patients with EGFR exon 20 insertion mutation.
- Trial name
- FAVOUR (NCT04858958)
- Testing
- Furmonertinib 160mg, Furmonertinib 240mg
- Where
- China
- Volunteers
- 90 people
- Sponsor
- Allist Pharmaceuticals, Inc.
Melanoma, Solid Tumor
Tovorafenib (DAY101) Monotherapy for Patients With Melanoma and Other Solid Tumors
This is a Phase 2, multi-center, open-label to evaluate the efficacy and safety of tovorafenib (DAY101) in participants ≥12 years of age with recurrent or progressive melanoma or solid tumors with BRAF fusion or CRAF/RAF1 fusions…
- Conditions
- Melanoma, Solid Tumor, CRAF Gene Amplification, RAF1 Gene Amplification
- Trial name
- NCT04985604
- Testing
- Tovorafenib
- Where
- 20 sites in United States, Australia and 5 more
- Volunteers
- 23 people
- Sponsor
- Day One Biopharmaceuticals, Inc.
Retinitis Pigmentosa, Eye Diseases, Hereditary
Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
The purpose of this study is to characterize the natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy, also called retinitis pigmentosa type 11, or RP11.
- Conditions
- Retinitis Pigmentosa, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Dystrophy Rod
- Trial name
- NCT05573984
- Where
- 7 sites in United States, Australia
- Volunteers
- 50 people
- Sponsor
- PYC Therapeutics
Cystic Fibrosis
Study of VX-809 in Cystic Fibrosis Subjects With the ∆F508-CFTR Gene Mutation
The primary objective of the study was to evaluate the safety and tolerability of VX-809 in participants with cystic fibrosis (CF) who are homozygous for the F508del mutation on the CF transmembrane conductance regulator (CFTR)…
- Trial name
- NCT00865904
- Testing
- VX-809
- Where
- 25 sites in United States, Belgium and 3 more
- Volunteers
- 93 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
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
Fertility Issues, Single-Gene Defects
Whole Genome Sequencing (WGS) on IVF Embryos and Individual Patients
This research project aims to utilise recent advances in whole genome sequencing of preimplantation genetic diagnosis embryos to investigate the impact of paternal age on de novo mutation rates in IVF embryos.
- Trial name
- EmbryoWGS (NCT05739890)
- Testing
- Embryo genome sequencing, Parents genome sequencing
- Where
- 4 sites in United States, Turkey (Türkiye)
- Volunteers
- 100 people
- Sponsor
- GenEmbryomics Pty. Ltd
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
AMN, AMN Gene Mutation
Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments.
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- CYGNET (NCT05008874)
- Testing
- Natural History Observation
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 65 people
- Sponsor
- SwanBio Therapeutics, Inc.
NSCLC Patients With EGFR Activating Mutation, Adenoid Cystic Carcinoma Metastatic
First in Human Multicenter Open Name Dose-increase, Consolidation Method to Study Safety Drug-level in Blood & Drug Metabolism Clinical Activity of Oral JBI-778 in Lung Cancer Patients With, Without Brain Metastasis IDH Mutated WHO Grade 3,4 Recurrent Glioma, Salivary Glands Tumor
This is a phase 1, multicentre, first-in-human, open-label, dose-escalation/consolidation study to investigate the safety, pharmacokinetics, pharmacodynamics, and clinical activity of orally administered JBI-778 in EGFR mutated…
- Conditions
- NSCLC Patients With EGFR Activating Mutation, Adenoid Cystic Carcinoma Metastatic, Adenoid Cystic Carcinoma of the Head and Neck
- Trial name
- NCT07755397
- Testing
- JBI-778
- Where
- 6 sites in India
- Volunteers
- 30 people
- Sponsor
- Jubilant Therapeutics India Limited
Non Small Cell Lung Cancer
DZD6008 Combination Therapy in Patients With Locally Advanced or Metastatic NSCLC With EGFR Mutation (TIAN-SHAN7)
This study is designed to evaluate safety and antitumor activity of DZD6008 combination therapy in patients with advanced Non-Small Cell Lung Cancer (NSCLC) with Epidermal Growth Factor Receptor (EGFR) mutations.
- Trial name
- NCT07070440
- Testing
- DZD6008, Pemetrexed, Carboplatin
- Where
- China
- Volunteers
- 180 people
- Sponsor
- Dizal Pharmaceuticals
Advanced Solid Tumors, Breast Cancer
A Phase 1 Study of ATV-1601 in Patients With Advanced Cancer That Have AKT1 E17K Mutations
This is a Phase 1, open-label study to evaluate the safety and tolerability of ATV-1601 administered orally in adults with AKT1 E17K-mutant, advanced solid tumors and also in HR+/HER2- advanced and metastatic breast cancer, with…
- Conditions
- Advanced Solid Tumors, Breast Cancer, Breast Carcinoma, Breast Neoplasms
- Trial name
- NCT07038369
- Testing
- ATV-1601, ATV-1601 + Fulvestrant
- Where
- 8 sites in United States, France and 2 more
- Volunteers
- 134 people
- Sponsor
- Atavistik Bio, Inc
NSCLC, Solid Tumor
A Study of JAB-21822 in Adult Patients With Advanced Solid Tumors Harboring KRAS p.G12C Mutation in China
To assess safety, tolerability, PK, efficacy and determine recommended phase 2 dose (RP2D) of JAB-21822 (glecirasib) administered in adult participants with KRAS p.G12C-mutant advanced solid tumors.
- Trial name
- NCT05009329
- Testing
- JAB-21822
- Where
- China
- Volunteers
- 315 people
- Sponsor
- Allist Pharmaceuticals, Inc.
Congenital Hearing Loss
a Study in Subjects With Otoferlin Mutation-related Hearing Loss Using RNA Base-eDiting Therapy(SOUND)
The purpose of the study is to determine whether HG205 as CRISPR/Cas13 RNA base-editing therapy is safe and effective for the treatment of hearing loss caused by p.Q829X mutation in OTOF gene.
- Trial name
- NCT06025032
- Testing
- HG205
- Where
- China
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Relapsed or Refractory Acute Myeloid Leukemia
A China Bridging Study of Ivosidenib in r/r AML Subjects With an IDH1 Mutation
This is a phase 1, multi-center, single-arm study to evaluate the pharmacokinetics(PK)/ pharmacodynamics(PD), safety, and clinical efficacy of orally administered Ivosidenib in Chinese subjects with R/R AML with an IDH1 mutation.
- Trial name
- NCT04176393
- Testing
- ivosidenib
- Where
- China
- Volunteers
- 30 people
- Sponsor
- CStone Pharmaceuticals
Advanced Non-Small Cell Lung Cancer
Efficacy and Safety of IBI351 in Combination With Chemotherapy in Advanced Non-squamous Non-small Cell Lung Cancer Subjects With KRAS G12C Mutation
This Phase Ib/III study evaluates the efficacy and safety of IBI351 in combination with chemotherapy in advanced non-squamous NSCLC with KRAS G12C mutation.
- Trial name
- NCT05504278
- Testing
- IBI351, Cetuximab, pemetrexed
- Where
- China
- Volunteers
- 144 people
- Sponsor
- Innovent Biologics (Suzhou) Co. Ltd.
Dystrophic Epidermolysis Bullosa
Study of PTW-002 in Patients With Dominant or Recessive Dystrophic Epidermolysis Bullosa Due to Mutation(s) in Exon 73 of the COL7A1 Gene
A double-blind, randomized, intra-patient placebo- controlled, multiple dose study of PTW-002 evaluating safety, proof of mechanism, preliminary efficacy, and systemic exposure in patients with Dominant Dystrophic Epidermolysis…
- Trial name
- NCT05529134
- Testing
- PTW-002 10 mg/g gel
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- Phoenicis Therapeutics
Chronic Lymphocytic Leukemia (CLL), Small Lymphocytic Lymphoma (SLL)
MAVRiC Studies 2L Treatment With AV in Patients With CLL/SLL Who Have Relapsed After a Course of BTKi + BCL2i Combination, With or Without Obinutuzumab
This study will evaluate the efficacy and safety of finite-duration acalabrutinib plus venetoclax therapy in patients with relapsed CLL or SLL, who have previously responded to first line (1L) cBTKi + BCL2i therapy (±…
- Trial name
- MAVRiC (NCT07024706)
- Testing
- Acalabrutinib, Venetoclax
- Where
- 47 sites in United States, Austria and 7 more
- Volunteers
- 80 people
- Sponsor
- AstraZeneca