Clinical trials: Genetic Mutation
BRCA1 Mutation, BRCA2 Mutation
Radical Fimbriectomy for Young BRCA Mutation Carriers
Some BRCA-mutated women are reluctant to undergo laparoscopic bilateral salpingo-oophorectomy. The goal of the bilateral laparoscopic radical fimbriectomy the investigators suggest, is to suppress the tubal source of possible…
- Conditions
- BRCA1 Mutation, BRCA2 Mutation, Hereditary Breast and Ovarian Cancer
- Trial name
- FIMBRIECTOMIE (NCT01608074)
- Testing
- Radical fimbriectomy, Histopathology SEE-FIM
- Where
- 14 sites in France
- Volunteers
- 123 people
- Sponsor
- Centre Oscar Lambret
CALR Gene Mutation, Essential Thrombocythemia
CPAP in Treating Obstructive Sleep Apnea in Patients With Polycythemia Vera or Essential Thrombocythemia
This early phase I trial studies how well the use of a continuous positive airway pressure (CPAP) machine works in treating obstructive sleep apnea in patients with polycythemia vera or essential thrombocythemia.
- Conditions
- CALR Gene Mutation, Essential Thrombocythemia, JAK2 Gene Mutation, MPL Gene Mutation
- Trial name
- NCT03972943
- Testing
- Continuous Positive Airway Pressure, Patient Observation, Questionnaire Administration
- Where
- 2 sites in United States
- Volunteers
- 8 people
- Sponsor
- University of Utah
X-Linked Hypophosphatemia
Registry for Patients With X-Linked Hypophosphatemia
This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH).
- Trial name
- NCT03193476
- Where
- 118 sites in Belgium, Bulgaria and 18 more
- Volunteers
- 1,489 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Non-Small Cell Lung Cancer With EGFR Mutation, Brain Metastases
Keynatinib in Treated Patients With NSCLC and Brain Metastases
The purpose of this study is to evaluate the safety and efficacy of Keynatinib capsules in patients with advanced non-small cell lung cancer (NSCLC) with brain metastasis or progression of brain metastasis after treatment with…
- Trial name
- NCT04824079
- Testing
- Keynatinib
- Where
- 5 sites in China
- Volunteers
- 16 people
- Sponsor
- Medolution Ltd.
Carcinoma, Non-Small-Cell Lung, Bevacizumab
Bevacizumab Combined With Double Doses of Icotinib in Advanced NSCLC Patients With EGFR L858R Mutation
This is a prospective, single-arm, single-center, phase II trial designed to evaluate the efficacy and safety of bevacizumab combined with a double dose of icotinib as a first-line treatment for patients with advanced…
- Conditions
- Carcinoma, Non-Small-Cell Lung, Bevacizumab, Tyrosine Kinase Inhibitor, EGFR L858R
- Trial name
- NCT05263947
- Testing
- Bevacizumab, Icotinib
- Where
- China
- Volunteers
- 35 people
- Sponsor
- Tianjin Medical University Cancer Institute and Hospital
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
Alpha 1-Antitrypsin Deficiency
Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult Participants
The goal of this clinical trial is to assess the safety and tolerability of a single oral dose of BMN 349 in participants with PiZZ or PiMZ/MASH.
- Trial name
- NCT06738017
- Testing
- BMN 349
- Where
- 7 sites in United States, United Kingdom
- Volunteers
- 6 people
- Sponsor
- BioMarin Pharmaceutical
Non Small Cell Lung Cancer, EGFR Exon 20 Insertion Mutation
To Assess the Efficacy and Safety of Furmonertinib in Patients With Epidermal Growth Factor Receptor 20ins Mutation Positive Stage IB-IIIA Non-small Cell Lung Carcinoma, Following Complete Tumour Resection With or Without Adjuvant Chemotherapy
This is a phase II, prospective, multi-centre study. To assess the efficacy and safety of furmonertinib in patients with epidermal growth factor receptor 20ins mutation positive stage IB-IIIA Non-small Cell Lung Carcinoma…
- Trial name
- NCT06192849
- Testing
- Furmonertinib
- Where
- China
- Volunteers
- 20 people
- Sponsor
- Juan LI, MD
Laminopathy, Lamin A/C Gene Mutation
Subanalysis in Patients With CARDIoLAMinopathy Enrolled to REPORT-CCM Registry
Observational, retrospective registry with acute and chronic endpoints
- Conditions
- Laminopathy, Lamin A/C Gene Mutation, Heart Failure
- Trial name
- CARDILAM-CCM (NCT04904393)
- Testing
- Implant of the device for Cardiac Contractility Modulation (CCM) Therapy
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Monaldi Hospital
Lynch Syndrome
Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria
The purpose of this study is to find out the proportion of patients diagnosed with Lynch syndrome in colorectal cacner patients meeting Chinese Lynch syndrome criteria.
- Trial name
- NCT03046849
- Testing
- next-generation sequencing
- Where
- 3 sites in China
- Volunteers
- 100 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Advanced Solid Tumors
Study of GEC255 in Subjects With Advanced Solid Tumors With KRAS p.G12C Mutation
The overall objective of this Phase 1 study is to evaluate the safety, Pharmacokinetics (PK), and anti-tumor activity of daily oral dosing with GEC255 tablets in subjects with advanced solid tumor with Kirsten Rat Sarcoma (KRAS)…
- Trial name
- NCT05768321
- Testing
- GEC255 tablets
- Where
- China
- Volunteers
- 70 people
- Sponsor
- GenEros Biopharma Hangzhou Ltd
NF type1 With Inoperable Plexiform Neurofibromas
An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1
This will be an open-label, single-arm, multicenter intermediate access protocol which provides treatment access to selumetinib for eligible patients with neurofibromatosis type 1 (NF1) who have inoperable…
- Trial name
- NCT03259633
- Testing
- Selumetinib
- Where
- United States
- Sponsor
- AstraZeneca
Primary Lymphedema
Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)
The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration
- Trial name
- CELSR1 (NCT04919655)
- Where
- France
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Chronic Myelogenous Leukemia - Chronic Phase
Asciminib Monotherapy, With Dose Escalation, for 2nd and 1st Line Chronic Myelogenous Leukemia
This will be a multicenter Phase II open-label study of asciminib in CML-CP patients who have been previously treated with one prior ATP- binding site TKI with discontinuation due to treatment failure, warning or intolerance.
- Trial name
- ASC2ESCALATE (NCT05384587)
- Testing
- asciminib
- Where
- 80 sites in United States
- Volunteers
- 34 people
- Sponsor
- Novartis Pharmaceuticals
NSCLC, Stage I, NSCLC, Stage II
A Real-world Study of Adjuvant Therapy in Early Stage NSCLC With EGFR Mutation-Positive in China
This study is a prospective, national, multi-center, non-interventional study. The main purpose is to explore the initial adjuvant treatment pattern after radical resection for early-stage NSCLC patients with EGFR…
- Conditions
- NSCLC, Stage I, NSCLC, Stage II, NSCLC, Stage III
- Trial name
- ADDRESS (NCT04830826)
- Testing
- Surgeries
- Where
- 51 sites in China
- Volunteers
- 1,490 people
- Sponsor
- The First Affiliated Hospital of Guangzhou Medical University
Non Small Cell Lung Cancer, RET Gene Mutation
The Efficacy and Safety of LMV-12 Combined With Osimertinib in NSCLC
This is an open-label, single-arm, dose-escalation, multicenter phase I/II clinical trial. The primary endpoints of this study were to evaluated the safety, tolerability, pharmacokinetic profile and preliminary efficacy of HE003…
- Conditions
- Non Small Cell Lung Cancer, RET Gene Mutation, MET Amplification, EGF-R Positive Non-Small Cell Lung Cancer
- Trial name
- PROFILE (NCT06109558)
- Testing
- LMV-12(HE003)
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Hunan Province Tumor Hospital
Non-small Cell Lung Cancer, EGFR G719X
First-line Furmonertinib in Advanced NSCLC Patients With EGFR Uncommon Mutation
Furmonertinib, a newly-designed pan-EGFR-TKI with a trifluoroethoxypyridine-based molecule structure, has shown promising clinical efficacy in EGFR Ex19del/L858R/T790M/Ex20ins mutant advanced NSCLC with an acceptable safety…
- Conditions
- Non-small Cell Lung Cancer, EGFR G719X, EGFR L861Q, EGFR S768I
- Trial name
- NCT05548348
- Testing
- Furmonertinib 160 mg, Q.D.
- Where
- 3 sites in China
- Volunteers
- 30 people
- Sponsor
- Chongqing University Cancer Hospital
Osteoporosis Pseudoglioma
Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome
This was a pilot study of 10 patients with Osteoporosis-pseudoglioma syndrome (OPPG) from the Old Order Mennonite community and 16 controls, who did not have OPPG.
- Trial name
- NCT01108068
- Testing
- Lithium
- Where
- United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Non-Small-Cell Lung Cancer
A Study of ASP2215 in Combination With Erlotinib in Subjects With Epidermal Growth Factor Receptor (EGFR) Activating Mutation-Positive (EGFRm+) Advanced Non-Small-Cell Lung Cancer (NSCLC) Who Have Acquired Resistance to an EGFR Tyrosine Kinase Inhibitor (TKI)
The purpose of the Phase 1b part of the study was to evaluate the safety and tolerability of ASP2215 in combination with erlotinib and determine the recommended phase 2 dose (RP2D) of ASP2215.
- Trial name
- NCT02495233
- Testing
- Gilteritinib, Erlotinib
- Where
- 4 sites in Japan
- Volunteers
- 10 people
- Sponsor
- Astellas Pharma Global Development, Inc.
NALP3 Mutation
Safety, Efficacy, Pharmacokinetics, Pharmacodynamics of ACZ885 in Patients With NALP3 Mutations and Clinical Symptoms
This study will investigate the clinical efficacy, safety, pharmacokinetics (PK) and pharmacodynamics (PD) of ACZ885, administered intravenously and subcutaneously to patients with NALP3 mutations whose clinical symptoms are…
- Trial name
- NCT00487708
- Testing
- canakinumab
- Where
- 10 sites in France, Germany and 3 more
- Volunteers
- 34 people
- Sponsor
- Novartis Pharmaceuticals
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