Clinical trials: Genetic Mutation
Multiple Myeloma
The Aim is to Identify Recurrent Genomic Mutations and/or Predisposing Polymorphisms in Patients With Sporadic Cases of Multiple Myeloma
There is a growing body of data suggesting that the the risk of developing multiple myeloma, or myelomagenesis, is associated with genetic alterations occurring in the tumor cells.
- Trial name
- MMSPORADGEN (NCT05331313)
- Testing
- DNA sequencing
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Hospices Civils de Lyon
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
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
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
Non-small Cell Lung Cancer
Retrospective, External Comparator Study of Lazertinib as the 2nd-Line Treatment in Patients With EGFR Mutation+ NSCLC
This retrospective, external comparator study for Lazertinib aims to assess the real-world effectiveness of Lazertinib as the second-line treatment versus platinum-based chemotherapy in patients with epidermal growth receptor…
- Trial name
- NCT05862194
- Testing
- Lazertinib, Platinum-based Chemotherapy
- Volunteers
- 534 people
- Sponsor
- Yuhan Corporation
IDH1 Mutation, Relapsed / Refractory AML
Olutasidenib in Relapsed IDH1 Mutated AML Patients Who Have Previously Received Venetoclax
This is a prospective, single-arm phase 2 pilot study to assess the response rate of IDH1 mutated relapsed/refractory acute myeloid leukemia (AML) patients who receive olutasidenib after progressing on venetoclax based regimens.
- Trial name
- NCT07471841
- Testing
- Olutasidenib, Azacitidine (AZA)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Timothy Pardee
Renal Tumor Histology, Kidney Cancer
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled.
- Conditions
- Renal Tumor Histology, Kidney Cancer, Renal Cell Carcinoma, Familial Renal Cancer
- Trial name
- NCT05534854
- Testing
- Gene test
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- RenJi Hospital
Leber Hereditary Optic Neuropathy (LHON)
A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation
The objective of this clinical study is to evaluate the safety and efficacy of NR082 in the treatment of LHON caused by mitochondrial ND4 gene mutation.
- Trial name
- NCT07406854
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 95 people
- Sponsor
- Wuhan Neurophth Biotechnology Limited Company
Pancreatic Cancer
Pembrolizumab With Olaparib as Combined Therapy in Metastatic Pancreatic Cancer
A phase II study combining pembrolizumab with olaparib in metastatic pancreatic adenocarcinoma patients with high tumour mutation burden
- Trial name
- NCT05093231
- Testing
- Pembrolizumab, Olaparib
- Where
- 17 sites in Australia, United Kingdom
- Volunteers
- 20 people
- Sponsor
- Cambridge University Hospitals NHS Foundation Trust
DFNB9, Congenital Hearing Loss
A Study of EH002 Gene Therapy for Otoferlin Gene Mutation-mediated Hearing Loss
The study is designed to evaluate the safety, tolerability, and preliminary efficacy of EH002 for the treatment of congenital deafness caused by mutations in the OTOF gene.
- Conditions
- DFNB9, Congenital Hearing Loss, Hearing Loss, Sensorineural
- Trial name
- NCT06722170
- Testing
- EH002 administration
- Where
- 2 sites in China
- Volunteers
- 24 people
- Sponsor
- Yilai Shu
Genetic Predisposition, BRCA Mutation
Frequency of Occult Breast Cancer After Prophylactic Mastectomy Among High-Penetrance Breast Cancer Gene Positives
The role of Sentinel Lymph Node Biopsy(SLNB) among mutation-negative BC patients is well established; however, we are lacking data to assess the role of sentinel lymph node biopsy for patients who are undergoing surgery for…
- Conditions
- Genetic Predisposition, BRCA Mutation, Breast Cancer, Occult Cancer
- Trial name
- OBC-PM (NCT05771454)
- Testing
- Histopathological confirmation
- Where
- Pakistan
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Aga Khan University Hospital, Pakistan
HIV-1 Infection
Dolutegravir-Lamivudine as Dual Therapy in naïve HIV-Infected Patients With Documented M184V Mutation:A Pilot Study
The purpose of this study is to evaluate the antiviral efficacy, safety and tolerability of dual therapy with 3TC and DTG as initial therapy among naïve HIV patients with a documented M184V mutation.
- Trial name
- PADDLE184V (NCT05295394)
- Testing
- Dolutegravir plus lamivudine
- Where
- 2 sites in Argentina
- Volunteers
- healthy volunteers welcome
- Sponsor
- Pedro Cahn
KRAS P.G12C, Pancreatic Cancer
A Phase II Study Evaluating JAB-21822 Monotherapy in Adult Patients With Pancreatic Cancer and Other Solid Tumors Harboring the KRAS p.G12C Mutation.
Patients with other advanced solid tumors (excluding NSCLC and CRC) who have progressed after prior systemic therapy or are intolerant and lack satisfactory alternative treatment options, aiming to evaluate the efficacy and…
- Conditions
- KRAS P.G12C, Pancreatic Cancer, Solid Tumor
- Trial name
- NCT06008288
- Testing
- JAB-21822
- Where
- 31 sites in China
- Volunteers
- 88 people
- Sponsor
- Allist Pharmaceuticals, Inc.
IDH1 Mutation, IDH2 Mutation
BGB-290 and Temozolomide in Treating Patients With Recurrent Gliomas With IDH1/2 Mutations
This phase I/II trial studies the side effects and how well BGB-290 and temozolomide work in treating patients with gliomas (brain tumors) with IDH1/2 mutations that have come back.
- Conditions
- IDH1 Mutation, IDH2 Mutation, Recurrent Glioblastoma, Recurrent WHO Grade II Glioma
- Trial name
- NCT03914742
- Testing
- PARP Inhibitor BGB-290, Temozolomide, Therapeutic Conventional Surgery
- Where
- 12 sites in United States
- Volunteers
- 67 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Mastocytosis
Masitinib in Patients With Mastocytosis With Handicap and Bearing the D816V Mutation
The objective is to compare efficacy and safety of AB1010 at 3 or 6 mg/kg/day in treatment of patients with mastocytosis with handicap and bearing activating point mutations in the phosphotransferase domain of c-Kit such as the…
- Trial name
- NCT01266369
- Testing
- masitinib
- Volunteers
- 21 people
- Sponsor
- AB Science
Carcinoma
Osimertinib Plus Savolitinib in EGFRm+/MET+ NSCLC Following Prior Osimertinib
This study (the SAVANNAH study) will investigate the efficacy of osimertinib in combination with savolitinib in participants with epidermal growth factor receptor mutation positive (EGFRm+) and mesenchymal epithelial transition…
- Trial name
- SAVANNAH (NCT03778229)
- Testing
- Osimertinib, Savolitinib
- Where
- 90 sites in United States, Brazil and 11 more
- Volunteers
- 367 people
- Sponsor
- AstraZeneca
Lung Neoplasms, EGFR Gene Mutations
Osimertinib in First and Second Line Treatment of NSCLC Harboring EGFR Mutations From Circulating Tumor DNA
Treatment efficacy of osimertinib will be assessed in patients with lung cancer harboring activating epidermal growth factor receptor (EGFR) mutations (cohort 1) and those harboring T790M (cohort 2) which were detected from…
- Trial name
- LiquidLung-O (NCT02769286)
- Testing
- Osimertinib
- Where
- South Korea
- Volunteers
- 38 people
- Sponsor
- Chonnam National University Hospital
Non-Small Cell Lung Cancer With EGFR Mutation
A Phase Ib/II Clinical Study of GH21 Capsules Combined With Osimertinib Mesylate Tablets in Patients With NSCLC
This study, including phase Ib , phase IIa and phase IIb, aims to evaluate the safety, tolerability, PK profile, efficacy and to determine the RP2D of GH21 capsules combined with Osimertinib mesylate tablets in NSCLC patients…
- Trial name
- NCT06306456
- Testing
- GH21, Tagrisso
- Where
- 6 sites in China
- Volunteers
- 94 people
- Sponsor
- Suzhou Genhouse Bio Co., Ltd.
Somatic Mutation
SMS - Study of Somatic Mutations Using Genome Sequencing
Disease and tissue aging are thought to be influenced by genetic changes, or mutations, acquired throughout life. These mutations provide clues regarding the genetic damage that occurred through the lifetime of the patient, and…
- Trial name
- SMS (NCT06851052)
- Testing
- sample collection, Seeking consent, Sample Collection: Surgical
- Where
- United Kingdom
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
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