Clinical trials: Genetic Mutation
Parkinson's Disease
Clinical, Molecular and Metabolic Characteristics of Parkinson's Disease (PD) Patients With Parkin Mutation
Parkinson's disease is a frequent neurodegenerative disorder. Genetic forms of the disease have been recently identified. The monogenic form due to parkin mutation is responsible for many familial cases and sporadic forms.
- Trial name
- NCT00169364
- Testing
- positron emission tomography
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Groupe Hospitalier Pitie-Salpetriere
Predisposition, Genetic, Cancer
Investigating the Role of Genetics in Disease Predisposition
Gametogenesis is the production of sperm and eggs; it takes place through the process of meiosis. Gametogenesis is subject to the acquisition of mutations as with other processes in the body.
- Conditions
- Predisposition, Genetic, Cancer, Mutation, Fertility Disorders
- Trial name
- NCT06584994
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Pancreatic Cancer
Maintenance Rucaparib in BRCA1, BRCA2 or PALB2 Mutated Pancreatic Cancer That Has Not Progressed on Platinum-based Therapy
The main purpose of this study is to look at the effectiveness, safety, and antitumor activity (preventing growth of the tumor) of the experimental study drug rucaparib (also known as CO-338) on subjects and on their pancreatic…
- Trial name
- NCT03140670
- Testing
- RUCAPARIB
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- Abramson Cancer Center at Penn Medicine
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
Muscular Disorders, Atrophic, Muscular Diseases
Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping.
- Conditions
- Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases
- Trial name
- NCT07250737
- Testing
- delpacibart zotadirsen
- Where
- 22 sites in United States
- Sponsor
- Avidity Biosciences, Inc.
ALK Gene Translocation, EGFR Activating Mutation
Nivolumab and Plinabulin in Treating Patients With Stage IIIB-IV, Recurrent, or Metastatic Non-small Cell Lung Cancer
This phase I/II trial studies the side effects and best dose of plinabulin when given together with nivolumab and to see how well they work in treating patients with stage IIIB-IV non-small cell lung cancer that has come back or…
- Conditions
- ALK Gene Translocation, EGFR Activating Mutation, Recurrent Non-Small Cell Lung Carcinoma, ROS1 Gene Translocation
- Trial name
- NCT02846792
- Testing
- Nivolumab, Plinabulin
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Washington
HIBM
Clinical, Biological and NMR Outcome Measures Study for Hereditary Inclusion Body Myopathy Due to Mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase Gene (GNE)
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
- Trial name
- ClinBio-GNE (NCT02196909)
- Testing
- motor function and strength assessment, NMR assessment, 24h urine and serum collection
- Where
- France
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
Amyloidosis
Identification of Clinically Significant Markers of ATTRv in Pre-symptomatic Mutation Carriers.
The objective of this prospective observational study is to periodically monitor pre-symptomatic subjects carrying a mutation of Transthyretin (TTR), identified in the context of a family screening of affected proband, through…
- Trial name
- NCT05754099
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Brain and Central Nervous System Tumors, Hereditary Wilms Tumor
Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the development of some types of cancer, and may…
- Conditions
- Brain and Central Nervous System Tumors, Hereditary Wilms Tumor, Kidney Cancer, Liver Cancer
- Trial name
- NCT01353300
- Testing
- DNA analysis, cytogenetic analysis, gene expression analysis
- Volunteers
- 31 people
- Sponsor
- Children's Oncology Group
Hereditary Breast and Ovarian Cancer
Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers
BRCA1/2 mutation carriers have a considerably increased risk to develop breast and ovarian cancer during their lifetime. There is evidence from the literature that for sporadic breast cancer disease risk and the course of disease…
- Trial name
- LIBRE (NCT02087592)
- Testing
- Structured exercise training plus mediterranean diet
- Where
- 3 sites in Germany
- Volunteers
- 69 people
- Sponsor
- Technical University of Munich
Relapsed or Refractory Multiple Myeloma, Patients With BRAFV600 E or BRAFV600K Mutation
BRAF/MEK Inhibition in Relapsed/Refractory Multiple Myeloma (BIRMA)
Trial for patients with refractory multiple myeloma after failure of at least two treatment regimens and with BRAFV600E/K Mutation to evaluate the efficacy of the kinase inhibitors Encorafenib (LGX818 in) combination with…
- Trial name
- GMMG-BIRMA (NCT02834364)
- Testing
- Encorafenib, Binimetinib
- Where
- 7 sites in Germany
- Volunteers
- 12 people
- Sponsor
- University of Heidelberg Medical Center
Colorectal Cancer
Study of Selumetinib (AZD6244)(ARRY-142886) in Combination With Irinotecan in Previously Treated Patients With Colorec
The purpose of this study is to determine whether treatment with Selumetinib (AZD6244) (Hyd-Sulfate) in combination with Irinotecan as a second treatment in patients with K-ras or B-raf mutation will prevent tumor progression and…
- Trial name
- NCT01116271
- Testing
- AZD6244, Irinotecan
- Where
- 12 sites in United States
- Volunteers
- 32 people
- Sponsor
- AstraZeneca
Leber Congenital Amaurosis
Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)
The purpose of the study is to determine whether HG004 as gene therapy is safe and effective for the treatment of Leber Congenital Amaurosis caused by mutationsin RPE65 gene.
- Trial name
- NCT06088992
- Testing
- HG004
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Brain Tumor, Glioma
Metabolic Characterization of Space Occupying Lesions of the Brain
High field MR-technologies are expected to boost metabolic spectroscopic imaging (MRSI), but also CEST-MRI. This is due to the fact that increased SNR is available which can be used to increase the spatial resolution of all…
- Conditions
- Brain Tumor, Glioma, IDH Mutation
- Trial name
- FASTMRSI (NCT04233788)
- Testing
- MR-scans using a 3T Prisma and a 7T Terra scanner (Siemens, Erlangen Germany)
- Where
- Switzerland
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Stage IV Colorectal Cancer
Study of FOLFIRI + Panitumumab Using Ultra-selection Technology of Patients With Stage IV Colorectal Cancer Refractory to Irinotecan Without Any Mutation on KRAS, PIK3Ca, BRAF and NRAS Genes Detected With Highly Sensitive Techniques
Open label Phase II study of FOLFIRI + Panitumumab using ultra-selection technology with next generation high sensitivity genotyping of patients with stage IV colorectal cancer refractory to irinotecan without any mutation on…
- Trial name
- ULTRA (NCT01704703)
- Testing
- panitumumab, FOLFIRI
- Where
- Spain
- Volunteers
- 72 people
- Sponsor
- Spanish Cooperative Group for the Treatment of Digestive Tumours (TTD)
Progressive Familial Intrahepatic Cholestasis (PFIC)
A Placebo-controlled Study of Maralixibat (SHP625) in Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC)
The purpose of this study is to determine if the investigational treatment (maralixibat) is safe and effective in pediatric participants with Progressive Familial Intrahepatic Cholestasis (PFIC).
- Trial name
- NCT03353454
- Testing
- Maralixibat
- Sponsor
- Mirum Pharmaceuticals, Inc.
Non-Small Cell Lung Cancer
A Safety and Efficacy Study of INC280 Alone, and in Combination With Erlotinib, Compared to Chemotherapy, in Advanced/Metastatic Non-small Cell Lung Cancer Patients With EGFR Mutation and cMET Amplification
The purpose of this study was to determine the maximum tolerated dose (MTD) or recommended phase II dose (RP2D) of INC280 in combination with erlotinib in the Phase Ib of this study, and to assess the anti-tumor activity and…
- Trial name
- NCT02468661
- Testing
- INC280 single agent, erlotinib
- Where
- 32 sites in United States, Belgium and 8 more
- Volunteers
- 23 people
- Sponsor
- Novartis Pharmaceuticals
Non Small Cell Lung Cancer
Liquid Biopsy for Detection of Driver Mutation in NSCLC
The purpose of this study is to evaluate the diagnostic and prognostic efficacy of liquid biopsy in different specimens and in different methods compared with tissue detection .
- Trial name
- NCT02778854
- Testing
- detection of driver mutation
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Chinese PLA General Hospital
Long QT Syndrome Type 1 or 2
Comparison Between Epinephrine and Exercise Test in QT Long Syndrome Patients
The aim of the study is to evaluate the best stress exam to unmask long QT in patient with KCNQ1 or KCNH2 mutation without long QT interval in rest electrocardiogram.
- Trial name
- QT long (NCT01745666)
- Testing
- exercise test, Epinephrine test
- Where
- 8 sites in France
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
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