Clinical trials: Gene Mutations
Stargardt Disease, Stargardt Macular Degeneration
A Phase 1/2, First-in-Human Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects With Stargardt Disease (STGD1)
This Phase 1/2 study will evaluate the safety, tolerability, and preliminary efficacy of subretinal SB-007 administration to determine dose selection in subjects with Stargardt's Type 1 (STGD1).
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy
- Trial name
- ASTRA (NCT06942572)
- Testing
- SB-007
- Where
- 5 sites in United States
- Volunteers
- 57 people
- Sponsor
- Splice Bio
X-linked Myotubular Myopathy
Myotubular Myopathy Event Study
X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential for optimum muscle function.
- Trial name
- MTMES (NCT01840657)
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Cure CMD
Congenital Myasthenic Syndrome
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7…
- Trial name
- NCT06078553
- Where
- 33 sites in United States, Austria and 10 more
- Volunteers
- 100 people
- Sponsor
- argenx
Childhood Germ Cell Tumor, Leydig Cell Tumor
Studying Genes in Samples From Younger Patients With Ovarian or Testicular Sex Cord Stromal Tumors
RATIONALE: Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors identify biomarkers related to cancer.
- Conditions
- Childhood Germ Cell Tumor, Leydig Cell Tumor, Ovarian Cancer
- Trial name
- NCT01572467
- Testing
- RNA analysis, gene expression analysis, mutation analysis
- Volunteers
- 50 people
- Sponsor
- Children's Oncology Group
Advanced Solid Tumors With an Alteration of the PIK3CA Gene, Estrogen Receptor Positive Breast Cancer
A Study of BYL719 in Adult Patients With Advanced Solid Malignancies, Whose Tumors Have an Alteration of the PIK3CA Gene
This is a first-in-man trial, in which BYL719 will be administered to adult patients with advanced solid tumors, whose tumors have an alteration of the PIK3CA gene and whose disease has progressed despite standard therapy or for…
- Trial name
- NCT01219699
- Testing
- BYL719, Fulvestrant
- Where
- 11 sites in United States, Germany and 3 more
- Volunteers
- 221 people
- Sponsor
- Novartis Pharmaceuticals
Non Small Cell Lung Cancer
A Retrospective Study: Evaluation of the Efficacy of Immunotherapy With Rare Mutations in Non-small Cell Lung Cancer
In advanced non-small cell lung cancer, there will be some rare mutations, such as ALK, KRAS, etc. The efficacy of these immunotherapies on these different rare mutations has not been reported.
- Trial name
- NCT04777175
- Testing
- immunity therapy
- Where
- 2 sites in China
- Volunteers
- 186 people
- Sponsor
- Yongchang Zhang
Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA)
Personalized Antisense Oligonucleotide for A Single Participant With UBTF Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA) due to a heterozygous missense…
- Trial name
- NCT07588581
- Testing
- nL-UBTF-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
BRAF Gene Mutation, Hepatic Complication
Dabrafenib in Treating Patients With Solid Tumors and Kidney or Liver Dysfunction
This phase I trial studies the side effects and best dose of dabrafenib in treating patients with solid tumors and kidney or liver dysfunction.
- Conditions
- BRAF Gene Mutation, Hepatic Complication, Renal Failure, Solid Neoplasm
- Trial name
- NCT01907802
- Testing
- Dabrafenib, Laboratory Biomarker Analysis, Pharmacogenomic Study
- Where
- 18 sites in United States, Canada
- Volunteers
- 8 people
- Sponsor
- National Cancer Institute (NCI)
Breast Cancer
A Study of Olaparib and Pembrolizumab in People With Triple Negative Breast Cancer (TNBC) or Hormone Receptor-positive HER2-negative Breast Cancer
This study will test any good and bad effects of combining the study drugs pembrolizumab and olaparib, given before the standard surgical procedure, to treat TNBC or HR+ HER2- breast cancers.
- Trial name
- NCT05203445
- Testing
- Olaparib, Pembrolizumab
- Where
- 7 sites in United States
- Volunteers
- 6 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Head and Neck Cancer
Biomarkers in Patients With Head and Neck Cancer
RATIONALE: DNA analysis of tumor tissue may help doctors predict how well patients will respond to treatment. PURPOSE: This research study is studying biomarkers in patients with head and neck cancer.
- Trial name
- NCT01466257
- Testing
- cetuximab, cisplatin, DNA analysis
- Volunteers
- 70 people
- Sponsor
- ECOG-ACRIN Cancer Research Group
Long-Term Effects Secondary to Cancer Therapy
Tumor Nutritional Therapy in the First-line Treatment of Stage IV NSCLC
A Single-center, Randomized, Controlled Clinical Study Comparing the Efficacy and Safety of Tumor Nutritional Therapy Combined With Immune Checkpoint Inhibitors and Chemotherapy in the First-line Treatment of Stage IV NSCLC…
- Trial name
- NCT06356701
- Testing
- Cancer nutritional treatment regimen (Spirulina Bifidobacterium Capsules, Fish Oil Grape Seed Blueberry Soft Capsules, Ganoderma Spore Oil Soft Capsules)
- Where
- China
- Volunteers
- 120 people
- Sponsor
- The First Affiliated Hospital of Dalian Medical University
Non-small Cell Lung Cancer Metastatic, EGF-R Positive Non-Small Cell Lung Cancer
Dacomitinib in Lung Cancer With Uncommon EGFR Mutations
This is a single center and exploratory study, aiming to analyze the efficacy and safety of dacomitinib-a pan-HER and irreversible TKI in subjects with diagnosed stage IIIB/IV or recurrent NSCLC.
- Trial name
- NCT04504071
- Testing
- Dacomitinib
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Shanghai Chest Hospital
HER2 Mutation-Related Tumors, HER2
A Phase 1/1b Study of IAM1363 in HER2 Cancers
This is a Phase 1/1b open-label, multi-center dose escalation and dose optimization study designed to evaluate the safety and preliminary efficacy of IAM1363 in participants with advanced cancers that harbor HER2 alterations.
- Conditions
- HER2 Mutation-Related Tumors, HER2, HER2-positive Breast Cancer, HER2 + Breast Cancer
- Trial name
- NCT06253871
- Testing
- IAM1363
- Where
- 53 sites in United States, France and 6 more
- Volunteers
- 383 people
- Sponsor
- Iambic Therapeutics, Inc
Breast Cancer
Real-World Outcomes of US Talazoparib-Treated Patients With Locally Advanced or Metastatic Breast Cancer
This study is a retrospective, multi-site, patient-level medical chart review of US adult patients with locally advanced or metastatic breast cancer (ABC) who initiated talazoparib on or after October 16, 2018 and were managed by…
- Trial name
- NCT04987931
- Testing
- Talazoparib
- Where
- United States
- Volunteers
- 84 people
- Sponsor
- Pfizer
Leukemia
Pre-existing Kinase Domain Mutations in Ph-positive Leukemias
The main task of this study includes analyses of the BCR-ABL1 (breakpoint cluster region/Abelson) gene and mutations in the BCR-ABL1 tyrosine kinase domain within flow-sorted stem cells from the bone marrow and/or peripheral…
- Trial name
- NCT02643888
- Where
- Austria
- Volunteers
- 30 people
- Sponsor
- St. Anna Kinderkrebsforschung
Pancreatic Cancer
An Open-label, Multicenter, Phase II Clinical Study to Evaluate HRS-7058 in Patients With Pancreatic Cancer
This is a multicenter, open-label, single-arm, phase II cilinical trial designed to evaluate the efficacy and safety of the KRAS G12C selective inhibitor HRS-7058 in patients with KRAS G12C-mutated advanced pancreatic cancer who…
- Trial name
- NCT07589569
- Testing
- HRS-7058
- Where
- 2 sites in China
- Volunteers
- 92 people
- Sponsor
- Shandong Suncadia Medicine Co., Ltd.
Non-small Cell Lung Cancer, PDL1 Gene Mutation
Serplulimab for Patients With Non-small Cell Lung Cancer (NSCLC) With TPS ≥ 50%: a Prospective, Single-center, Single-arm Phase 2 Study.
The goal of this clinical trial is to observe the efficacy and safety of Serplulimab monotherapy as a neoadjuvant treatment for TPS ≥ 50% non-small cell lung cancer (NSCLC).
- Trial name
- NSCLC (NCT06195683)
- Testing
- Serplulimab
- Where
- China
- Volunteers
- 23 people
- Sponsor
- Zhejiang Cancer Hospital
Advanced Cholangiocarcinoma, FGFR2 Gene Mutation
Phase 3 Study of BGJ398 (Oral Infigratinib) in First Line Cholangiocarcinoma With FGFR2 Gene Fusions/Translocations
Infigratinib is an oral drug which selectively binds to fibroblast growth factor receptor (FGFR) 2 and is being developed to treat participants with FGFR2 mutated cholangiocarcinoma.
- Trial name
- NCT03773302
- Testing
- BGJ398, Gemcitabine, Cisplatin
- Where
- 116 sites in United States, Australia and 13 more
- Volunteers
- 48 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Advanced Solid Tumors Cancer, PDAC
A Study of GFH375 Combined With Cetuximab or Chemotherapy in Participants With Solid Tumors Harboring KRAS G12D Mutation
This is a Phase Ib/II clinical study aimed at exploring the safety and efficacy of Regimen A (GFH375 in combination with Cetuximab) and Regimen B (GFH375 in combination with AG) in participants with solid tumors.Phase Ib: To…
- Conditions
- Advanced Solid Tumors Cancer, PDAC, CRC (Colorectal Cancer)
- Trial name
- NCT07259590
- Testing
- GFH375
- Where
- 4 sites in China
- Volunteers
- 126 people
- Sponsor
- Genfleet Therapeutics (Shanghai) Inc.
Familial Hemophagocytic Lymphohistiocytosis Type 3 (FHL 3)
Safety and Efficacy of Gene Therapy of FHL Type 3 Caused by Mutations in the Human UNC13D Gene by Transplantation of a Single Dose of Autologous CD34+ Cells Transduced ex Vivo With the UNC13D LV Vector Expressing the UNC13D cDNA
The investigators propose to replace HLA- partially compatible allogeneic Hematopoietic Stem Cell Transplantation (HSCT) for FHL type 3 patients, with autologous transplantation of immunoselected gene-modified CD34+ cells…
- Trial name
- MUNC13-4 (NCT06736080)
- Testing
- MUNC-CD34, MUNC-T3
- Where
- France
- Volunteers
- 5 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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