Clinical trials: Gene Mutations
Hyperekplexia, CTNNB1 Gene Mutation
Hyperekplexia in Patients With CTNNB1 Mutation
A few years ago, a new genetic disorder (OMIM # 615075) has been associated with loss-of-function variations in the CTNNB1 gene.
- Trial name
- CTNNB1 (NCT05168969)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Bile Duct Adenocarcinoma, Fanconi Anemia Complementation Group Gene Mutation
Olaparib in Treating Patients With Metastatic Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations
This phase II trial studies how well olaparib works in treating patients with biliary tract cancer that has spread to other places in the body (metastatic) and with aberrant DNA repair gene mutations.
- Conditions
- Bile Duct Adenocarcinoma, Fanconi Anemia Complementation Group Gene Mutation, Metastatic Bile Duct Carcinoma, PTEN Gene Deletion
- Trial name
- NCT04042831
- Testing
- Biospecimen Collection, Computed Tomography, Magnetic Resonance Imaging
- Where
- 5 sites in United States
- Volunteers
- 32 people
- Sponsor
- Academic and Community Cancer Research United
Non-small Cell Lung Cancer Metastatic
Feasibility of the Research for Mutation of K-ras and EGFR in CTCs From Metastatic Non Small Cells Bronchial Carcinomas
The knowledge concerning the biology of the human tumors do not stop widening, in particular concerning the molecular mechanisms at the origin of the process of carcinogenesis and its ability to become perpetual.
- Trial name
- CTC-Poumon (NCT01380795)
- Testing
- CTC
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Centre Georges Francois Leclerc
Stargardt
The Safety and Efficacy of ZVS106e in the Treatment of IRDs Caused by Biallelic Mutations in ABCA4
To evaluate the preliminary safety of monocular and single subretinal injection of ZVS106e injection in the treatment of patients with hereditary retinal degeneration (ABCA4-IRDS) caused by ABCA4 biallelic mutations.
- Trial name
- ZVS106e (NCT07241169)
- Testing
- ZVS106e
- Where
- 2 sites in China
- Volunteers
- 9 people
- Sponsor
- Zhongshan Ophthalmic Center, Sun Yat-sen University
Breast Cancer (Early Breast Cancer), BRCA 1 Gene Mutation
Combination of Mitomycin and Carboplatin in Neoadjuvant Therapy in BRCA-associated Triple-negative Locally Advanced Breast Cancer
This study was designed to evaluate the safety and efficacy of neoadjuvant therapy with mitomycin and carboplatin in patients with BRCA-associated locally advanced triple-negative breast cancer.
- Conditions
- Breast Cancer (Early Breast Cancer), BRCA 1 Gene Mutation, BRCA 2 Gene Mutation
- Trial name
- MCarb-T (NCT07821229)
- Testing
- Neoadjuvant Chemotherapy (NACT)
- Where
- Russia
- Volunteers
- 30 people
- Sponsor
- N.N. Petrov National Medical Research Center of Oncology
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 Solid Tumors
A Study of PARG Inhibitor FORX-428 in Patients With Advanced Solid Tumors.
The goal of this interventional study is to evaluate the safety and tolerability of escalating doses of FORX-428 as monotherapy in patients with select advanced solid tumors with BRCA1/2 mutations or other DDR deficiencies or…
- Trial name
- NCT07356453
- Testing
- FORX-428
- Where
- 8 sites in United States
- Volunteers
- 40 people
- Sponsor
- FoRx Therapeutics AG
Parkinson, Parkinson Disease
Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers
Every year, approximately 9,000 Parkinson disease (PD) patients undergo deep brain stimulator (DBS) placement into the subthalamic nucleus (STN-DBS).
- Conditions
- Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation
- Trial name
- NCT03234478
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Rutgers, The State University of New Jersey
NF2 Deficiency
Gene Therapy for Neurofibromatosis Type 2 (NF2) with ST002
This is an open-label, single-arm, dose-escalation pilot study to evaluate the safety, tolerability and preliminary efficacy of ST002 in the treatment of patients with NF2 mutation-related solid tumors.
- Trial name
- NCT06834438
- Testing
- ST002
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Opioid Dependence, Methadone Toxicity
KCNH2 Polymorphisms on the QTc Interval in Kelantanese Malays Patients Receiving Methadone Maintenance Therapy (MMT)
Methadone maintenance therapy (MMT) is one of the modalities to prevent HIV transmission among injected drug users, particularly in opioid-dependent users.
- Conditions
- Opioid Dependence, Methadone Toxicity, HERG Gene Mutation
- Trial name
- NCT03603158
- Where
- Malaysia
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Universiti Sains Malaysia
Medullary Thyroid Cancer
Natural History Study of Children and Adults With Medullary Thyroid Cancer
Background: Medullary thyroid cancer (MTC) is a rare cancer of the thyroid gland. In children and adults, it is often part of a condition called Multiple Endocrine Neoplasia 2 (MEN2).
- Trial name
- NCT01660984
- Where
- United States
- Volunteers
- 105 people
- Sponsor
- National Cancer Institute (NCI)
Lung Cancer
Aumolertinib Adjuvant Therapy of Resectable Stage I EGFRm+ NSCLC With High-grade Patterns
Efficacy and safety of postoperative adjuvant treatment of NSCLC patients with Aumolertinib.
- Trial name
- APPOINT (NCT04922138)
- Testing
- Aumolertinib
- Where
- 2 sites in China
- Volunteers
- 104 people
- Sponsor
- Baohui Han
Locally Advanced Pancreatic Adenocarcinoma, Metastatic Pancreatic Adenocarcinoma
Studying Chemotherapy With or Without Panitumumab for Unresectable, Locally Advanced, or Metastatic Pancreatic Cancer Without KRAS Mutations
This phase III trial compares the effect of adding panitumumab to standard chemotherapy (with nanoliposomal Irinotecan, leucovorin, and 5-fluorouracil [5-FU] or irinotecan, leucovorin, and 5-FU or nab-paclitaxel and gemcitabine)…
- Conditions
- Locally Advanced Pancreatic Adenocarcinoma, Metastatic Pancreatic Adenocarcinoma, Stage III Pancreatic Cancer AJCC v8, Stage IV Pancreatic Cancer AJCC v8
- Trial name
- NCT06998940
- Testing
- Biospecimen Collection, Computed Tomography, Fluorouracil
- Where
- 274 sites in United States
- Volunteers
- 94 people
- Sponsor
- SWOG Cancer Research Network
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Non-small Cell Lung Cancer
Radiotherapy Combined With Iressa for EGFR Mutation Positive Patients With Locally Advanced Non-small Cell Lung Cancer (NSCLC)
The purpose of this study is to access the effect and safety of radiotherapy combined whth Iressa for patients with locally advanced non-small cell lung cancer with harboring active EGFR mutations.
- Trial name
- NCT01391260
- Testing
- Gefitinib
- Where
- 6 sites in China
- Volunteers
- 30 people
- Sponsor
- ZhuGuangYing
Non-small Cell Lung Cancer, EGFR Mutations
Understanding Mechanisms of Acquired Resistance to BIBW2992
In this research study we are looking to see how effective BIBW 2992 is at suppressing the development of the T790M mutation in non-small cell lung cancer (NSCLC) patients.
- Trial name
- NCT01074177
- Testing
- BIBW 2992
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Massachusetts General Hospital
Patients With Advanced Oligometastatic Non-small Cell Lung Cancer (NSCLC) Who Have Tested Positive for EGFR Mutations Confirmed by Histopathological Examination
ctDNA Monitoring Guides the Treatment of NSCLC With Befotertinib Combined With Radiotherapy
Befotertinib is a third-generation EGFR-TKI independently developed in China. In first-line treatment of advanced non-small cell lung cancer (NSCLC) with EGFR mutations, it has demonstrated a median progression-free survival…
- Trial name
- NCT07410611
- Testing
- Befotertinib
- Where
- China
- Volunteers
- 84 people
- Sponsor
- Hebei Medical University Fourth Hospital
Behçet's Disease
MEVALONATE KINASE GENE MUTATIONS AND THEIR CLINICAL CORRELATIONS IN BEHÇET'S DISEASE
Background: Genetics is suggested to play a critical role in the development of Behçet's disease (BD). Shared phenotypic features requires an approach to the differential diagnosis from periodic febrile syndromes particularly…
- Trial name
- NCT01780363
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- healthy volunteers welcome
- Sponsor
- Cukurova University
Locally Advanced Cholangiocarcinoma, Intrahepatic Cholangiocarcinoma
Safety and Anti-Tumor Activity of TYRA-200 in Advanced Cholangiocarcinoma With Activating FGFR2 Gene Alterations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), and preliminary antitumor activity of TYRA-200 in cancers with FGFR2 activating gene alterations, including unresectable locally…
- Conditions
- Locally Advanced Cholangiocarcinoma, Intrahepatic Cholangiocarcinoma, Solid Tumor, Metastatic Cholangiocarcinoma
- Trial name
- SURF201 (NCT06160752)
- Testing
- Phase 1 Part A - dose escalation TYRA-200 taken once daily by mouth in 28-day cycles, Phase 1 Part B - dose expansion TYRA-200 taken once daily by mouth in 28-day cycles
- Where
- 4 sites in United States
- Volunteers
- 40 people
- Sponsor
- Tyra Biosciences, Inc
Permanent Neonatal Diabetes Mellitus
Long-Term Sulfonylurea Response in ABCC8 Neonatal Diabetes (SuResponsSUR)
The purpose of this study is to investigate long term response of sulfonylurea and glucose control in children with diabetes due to mutations in ABCC8 that have been switched from insulin injections to sulfonylurea tablets.
- Trial name
- SuResponsSUR (NCT02624830)
- Testing
- Sulfonylurea
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Haukeland University Hospital
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