Clinical trials: Gene Mutations
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
ER-positive and HER2-negative Metastatic or Locally Advanced Breast Cancer, a Germline or Somatic BRCA Mutation, or a Deleterious Alteration of Other Genes Involved in Homologous Recombination Repair (HRR) or in MSI Status
Durvalumab, With Olaparib and Fulvestrant in Advanced ER+, HER2- Breast Cancer Patients.
This study evaluates the efficacy of the combination of olaparib, durvalumab, and fulvestrant for the treatment of patients with ER-positive, HER2-negative, locally advanced or metastatic breast cancer with BRCA gene alterations…
- Trial name
- DOLAF (NCT04053322)
- Testing
- Durvalumab, Olaparib, Fulvestrant
- Where
- 2 sites in France
- Volunteers
- 172 people
- Sponsor
- UNICANCER
Lung Neoplasms
DeniLA: Comprehensive Demographics and Clinical Profile of NSCLC Patients: Analyzing Guideline-Concordant Care in First-line Treatment Patterns
This is a prospective, observational, multicenter study, in which clinical and demographic data will be extracted from medical records.
- Trial name
- DeniLA (NCT07109154)
- Where
- 7 sites in Brazil
- Volunteers
- 200 people
- Sponsor
- AstraZeneca
MEN1 Gene Mutation
Leflunomide Treatment for MEN1 Patients - the LUMEN1 Trial
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder due to mutations in the tumor suppressor gene MEN1 with the corresponding gen product menin.
- Trial name
- LUMEN1 (NCT05605587)
- Testing
- Leflunomide 20 mg
- Where
- Switzerland
- Volunteers
- 3 people
- Sponsor
- University Hospital, Basel, Switzerland
Non-small Cell Lung Cancer, Colorectal Carcinoma
Phase 1 Study to Investigate TCRTs KRAS Mutation in Unresectable, Advanced, and/or Metastatic Solid Tumors
Phase I Study, a master protocol to investigate TCR-Engineered T cells recognizing KRAS mutations in adult subjects with Unresectable, Advanced, and/or Metastatic Solid Tumors.
- Conditions
- Non-small Cell Lung Cancer, Colorectal Carcinoma, Pancreatic Ductal Adenocarcinoma, Endometrial Cancer
- Trial name
- NCT06218914
- Testing
- NT-112: Autologous, engineered T Cells targeting KRAS G12D, AZD0240: Autologous, engineered T Cells targeting KRAS G12D
- Where
- 18 sites in United States
- Volunteers
- 108 people
- Sponsor
- AstraZeneca
Lung Cancer
Erlotinib Versus Pemetrexed as Second-Line Therapy in Treating Patients With Advanced Lung Adenocarcinoma
Both pemetrexed and erlotinib are second-line treatment options for patients with advanced non-small cell lung cancer. It is controversial that whether it is necessary to detect epidermal growth factor receptor (EGFR) mutation…
- Trial name
- NCT01565538
- Testing
- Erlotinib, Pemetrexed
- Where
- China
- Volunteers
- 123 people
- Sponsor
- Si-Yu Wang
Gene Expression Profiles in CML Non-responders
Gene Expression Profiles in CML Non-responders
Chronic myeloid leukaemia (CML) is a haematological malignancy primarily driven by the fusion oncogene BCR-ABL1, resulting in a constitutively expressed tyrosine kinase.
- Trial name
- NCT04219111
- Testing
- Clariom
- Where
- United Kingdom
- Sponsor
- Sheffield Children's NHS Foundation Trust
Immunotherapy, Adjuvant Therapy
Immunotherapy Versus Chemotherapy as Adjuvant Therapy for Colon Cancer With MSI-H or POLE/ POLD1 Mutations
This is a two-group, parallel, randomized, standard-control phase II study comparing the safety and efficacy of immunotherapy versus standard chemotherapy in patients undergoing T4NX/TXN+ colon cancer surgery with MSI-H or POLE/…
- Conditions
- Immunotherapy, Adjuvant Therapy, Colon Cancer, MSI-H
- Trial name
- NCT04969029
- Testing
- Tirelizumab
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
Adenocarcinoma of Lung Metastatic to Brain
Furmonertinib Combined With Anlotinib in Lung Adenocarcinoma Patients With EGFR Mutations and Brain Metastases
The goal of this clinical trial is to learn if furmonertinib plus anlotinib works to treat participants with lung adenocarcinoma with EGFR mutations and brain metastases.
- Trial name
- LungBrain001 (NCT06483672)
- Testing
- Furmonertinib, Anlotinib
- Volunteers
- 27 people
- Sponsor
- Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Myelofibrosis
Clinical Trail to Evaluate the Effect of Long-term Treatment With Gecacitinib on Myelofibrosis and Gene Mutation Levels
This study was an observational study, and about 40 patients with intermediate and high risk myelofibrosis who had participated in any previous clinical study of Gecacitinib hydrochloride and were still receiving Gecacitinib…
- Trial name
- NCT07342712
- Where
- China
- Volunteers
- 40 people
- Sponsor
- First Affiliated Hospital of Zhejiang University
Primary Ciliary Dyskinesia (PCD)
Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
This is a multi-dose study with RCT1100 and is designed to provide safety, tolerability and preliminary efficacy data for future clinical studies.
- Trial name
- NCT06633757
- Testing
- RCT1100
- Where
- 3 sites in United States, Denmark and 1 more
- Volunteers
- 14 people
- Sponsor
- ReCode Therapeutics
Lung Non-Squamous Non-Small Cell Carcinoma
Zipalertinib With Carboplatin and Pemetrexed for the Treatment of Resectable, Stage II-IIIB, Non-Small Cell Lung Cancer
This phase II trial tests how well zipalertinib with carboplatin and pemetrexed works in treating stage II-IIIB non small cell lung cancer. that can be removed by surgery (resectable).
- Trial name
- NCT07229339
- Testing
- Biospecimen Collection, Carboplatin, Computed Tomography
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Jonsson Comprehensive Cancer Center
Hereditary Elliptocytosis (HE), Hereditary Pyropoikilocytosis (HPP)
A Novel Mutation of the Spectrin Gene
The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP.
- Trial name
- NCT00723567
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Utah
SPG7
Consequences of Mutations in the SPG7 Gene at the Heterozygous State
Paraplegin, encoded by the SPG7 gene, is an ATP-dependent mAAA protease located in the inner mitochondrial membrane. Its function is not fully understood. Mutations in the SPG7 gene are responsible for spastic paraplegia type 7.
- Trial name
- CONSP-HET7 (NCT05127967)
- Testing
- Skin biopsy
- Where
- France
- Volunteers
- 11 people
- Sponsor
- University Hospital, Montpellier
Bladder Cancer
Dovitinib in BCG Refractory Urothelial Carcinoma With FGFR3 Mutations or Over-expression
This trial will assess the 6-month complete response rate and toxicity profile of oral dovitinib therapy in BCG-refractory urothelial carcinoma patients with tumors with FGFR3 mutations or over-expression who are ineligible for…
- Trial name
- NCT01732107
- Testing
- Dovitinib
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Noah Hahn, M.D.
Germline BRCA1/2 Mutations and, Metastatic Adenocarcinoma of the Pancreas
Olaparib in gBRCA Mutated Pancreatic Cancer Whose Disease Has Not Progressed on First Line Platinum-Based Chemotherapy
A Phase III, Randomised, Double Blind, Placebo Controlled, Multicentre Study of Maintenance Olaparib Monotherapy in Patients with gBRCA Mutated Metastatic Pancreatic Cancer whose Disease Has Not Progressed on First Line Platinum…
- Trial name
- POLO (NCT02184195)
- Testing
- Olaparib
- Where
- 103 sites in United States, Australia and 10 more
- Volunteers
- 154 people
- Sponsor
- AstraZeneca
Breast Cancer
Serum Biomarkers to Characterize the Effects of Therapy on Ovarian Reserve in Premenopausal Women With Early-stage Breast Cancer or BRCA Mutations
The purpose of this study is to learn more about the effects of your BRCA mutation on the ovaries. The BRCA gene can make it hard to conceive a child in the future. It may also bring on early menopause.
- Trial name
- NCT00823654
- Testing
- Blood draw and questionnaires
- Where
- 8 sites in United States
- Volunteers
- 609 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Amyotrophic Lateral Sclerosis
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of RAG-17 in Subjects With Amyotrophic Lateral Sclerosis (ALS) With Superoxide Dismutase Type 1 (SOD1) Gene Mutation
This is a Phase 1, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of RAG-17 in Subjects with Amyotrophic Lateral Sclerosis (ALS) with Superoxide…
- Trial name
- NCT06556394
- Testing
- RAG-17
- Where
- 3 sites in China
- Volunteers
- 32 people
- Sponsor
- Ractigen Therapeutics.
Anatomic Stage I Breast Cancer AJCC v8, Anatomic Stage II Breast Cancer AJCC v8
Effect of HSD3B1 (1245C) Gene Mutation on Treatment of Stage I-III Breast Cancer
This stage IV trial examines how a mutation in HSD3B1 (1245C) gene affects treatment of stage I-III breast cancer. This trial may help researchers determine if mutations in HSD3B1 decreases the efficacy of aromatase inhibitor…
- Conditions
- Anatomic Stage I Breast Cancer AJCC v8, Anatomic Stage II Breast Cancer AJCC v8, Anatomic Stage III Breast Cancer AJCC v8, Breast Adenocarcinoma
- Trial name
- NCT05183828
- Testing
- Biospecimen Collection, Letrozole, Questionnaire Administration
- Where
- United States
- Volunteers
- 62 people
- Sponsor
- University of Washington
Anaplastic Astrocytoma, Glioblastoma
Veliparib, Radiation Therapy, and Temozolomide in Treating Patients With Newly Diagnosed Malignant Glioma Without H3 K27M or BRAFV600 Mutations
This phase II trial studies how well veliparib, radiation therapy, and temozolomide work in treating patients with newly diagnosed malignant glioma without H3 K27M or BRAFV600 mutations.
- Conditions
- Anaplastic Astrocytoma, Glioblastoma, Malignant Glioma
- Trial name
- NCT03581292
- Testing
- Radiation Therapy, Temozolomide, Veliparib
- Where
- 163 sites in United States, Australia and 3 more
- Volunteers
- 38 people
- Sponsor
- Children's Oncology Group
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