Clinical trials: Somatic Mutation
Tuberous Sclerosis Complex
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction…
- Trial name
- NCT04112537
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
Von Hippel-Lindaus Disease
Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease?
The investigators aim to analyze tumors from vHL patients who have different courses of disease and different types of VHL gene alterations to characterize which types of genetic alterations the tumors contain and how these…
- Trial name
- NCT02207686
- Where
- Denmark
- Volunteers
- 50 people
- Sponsor
- Marie Luise Bisgaard, MD
Colorectal Carcinoma
Role of Diet on the Microbiome of the Digestive System
This study is to learn more about how diet affects the microbiome (bacteria and microorganisms) of the digestive system. Researchers want to learn if this, in turn, has an effect on if and how people then develop colorectal…
- Trial name
- NCT04666727
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- M.D. Anderson Cancer Center
Ovarian Cancer, Fallopian Tube Cancer
A Study of Oral Rucaparib in Patients With a Solid Tumor (Phase I) or With gBRCA Mutation Ovarian Cancer (Phase II)
Part 1 (Completed Enrollment) - The purpose of the first part of the study was to evaluate the safety of different doses and dosing regimens of oral rucaparib administered daily to patients with solid tumors.
- Conditions
- Ovarian Cancer, Fallopian Tube Cancer, Peritoneal Cancer, Advanced Solid Tumor With Evidence of Germline or Somatic BRCA
- Trial name
- NCT01482715
- Testing
- Rucaparib
- Where
- 16 sites in United States, Canada and 3 more
- Volunteers
- 136 people
- Sponsor
- pharmaand GmbH
Advanced Solid Tumor
Study of CX-5461 in Patients With Solid Tumours and BRCA1/2, PALB2 or Homologous Recombination Deficiency (HRD) Mutation
This is an open-label, multi-center, phase 1b study designed to determine a tolerable dose of CX-5461 administered by IV infusion on Day 1 and Day 8 of a 28-day cycle in patients with selected solid tumours and associated…
- Trial name
- NCT04890613
- Testing
- CX-5461
- Where
- 8 sites in United States, Canada
- Volunteers
- 52 people
- Sponsor
- Senhwa Biosciences, Inc.
Somatic Mutation
SMS - Study of Somatic Mutations Using Genome Sequencing
Disease and tissue aging are thought to be influenced by genetic changes, or mutations, acquired throughout life. These mutations provide clues regarding the genetic damage that occurred through the lifetime of the patient, and…
- Trial name
- SMS (NCT06851052)
- Testing
- sample collection, Seeking consent, Sample Collection: Surgical
- Where
- United Kingdom
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Cerebral Arteriovenous Malformations
Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations.
Cerebral arteriovenous malformations (CAVMs) are abnormal vessels located on the surface of the brain or within the cerebral parenchyma, causing abnormal communication between the arterial and venous networks, without the…
- Trial name
- BioMAV2 (NCT07103304)
- Testing
- Search for activating somatic genetic mutations
- Where
- 3 sites in France
- Volunteers
- 16 people
- Sponsor
- University Hospital, Rouen
Ovarian Neoplasms, Endometrial Neoplasms
DOvEEgene/WISE Genomics: Diagnosing Ovarian and Endometrial Cancer Early Using Genomics
This study aims to develop and validate a test for detecting ovarian and endometrial cancers early. It relies on detecting somatic mutations that are associated with these cancers from a uterine pap test.
- Conditions
- Ovarian Neoplasms, Endometrial Neoplasms, Endometrial Cancer, Ovarian Cancer
- Trial name
- DOvEEgene (NCT02288676)
- Where
- Canada
- Volunteers
- 1,200 people
- Sponsor
- McGill University
Metabolic Syndrome, Insulin Resistance
Effect of Blueberry Consumption on Metabolic Syndrome & DNA Damage
Obesity usually brings with it disturbances in the body that increase the chances of developing serious diseases like diabetes and cancer.
- Conditions
- Metabolic Syndrome, Insulin Resistance, DNA Damage
- Trial name
- NCT02075307
- Testing
- Blueberry Powder
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Recurrent/Advanced Gastric Cancer
Efficacy of Triplet Combination With Pembrolizumab, Neratinib, and Paclitaxel as a Second Line Treatment in Recurrent/Advanced Gastric Cancer Having Somatic Human Epidermal Growth Factor Receptor Family (EGFR, HER2, HER3, HER4) Mutations or HER2 Amplification/Overexpression
Clinical Indication : HER mutated or HER2 Amplification/Overexpression in Gastric Cancer, 2nd-line Trial Type : Interventional, Open label Treatment Groups : Single arm: Pembrolizumab 200 mg every 3 weeks (Q3W), neratinib at 240…
- Trial name
- NCT05512182
- Testing
- Chemotherapy
- Where
- South Korea
- Sponsor
- Yonsei University
Ovarian Cancer
Determination of the Feasibility of Tumoural Somatic Mutations Detection in Blood of Patients With Ovarian Cancer
BOVARY-Pilot is a monocentric prospective transversal pilot study with a total duration of 6 months. The purpose of this study is to determine the feasibility of detecting somatic tumor mutations in the blood of patients with…
- Trial name
- BOVARY Pilot (NCT03881683)
- Testing
- HRD and BRCA mutations
- Where
- France
- Volunteers
- 24 people
- Sponsor
- Institut de Cancérologie de Lorraine
Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
This study will analyze the germline and somatic mutations underlying the development of ADPKD in order to better understand the genetic mechanism responsible for the cystic transformation.
- Trial name
- ADPKD (NCT03901521)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Weill Medical College of Cornell University
Mycosis Fungoides, Lymphoma, Large B-cell, Diffuse
Cell-free Circulating DNA in Primary Cutaneous Lymphomas
To evaluate the possibility of detecting cell-free circulating tumoral DNA in potentially aggressive primary cutaneous lymphomas, the investigator opted to search a representative tumor sample mutation in the blood of these…
- Trial name
- MATULILA (NCT02883517)
- Testing
- Cytogenetic and molecular studies
- Where
- France
- Volunteers
- 35 people
- Sponsor
- University Hospital, Bordeaux
Non-small-cell Lung Cancer With Somatic EGFR Mutations
Biomarker Study Accompanying the AIO-TRK-0114 Study (MARBLE)
To compare the efficacy of afatinib maintenance with pemetrexed maintenance following induction therapy with platinum/ pemetrexed in patients with metastatic EGFR mutated non-small-cell lung cancer progressing after first-line…
- Trial name
- Trans-MARBLE (NCT02595840)
- Testing
- Afatinib, Pemetrexed
- Volunteers
- 4 people
- Sponsor
- Universität Duisburg-Essen
Endometrial Cancer, Endometrial Cancer Precursors
The DETECT Study: Discovery and Evaluation of Testing for Endometrial and Ovarian Cancer in Tampons
BACKGROUND: Endometrial cancer is a common and deadly cancer for women. It is getting more common and deadly because risk factors like age and obesity are increasing.
- Conditions
- Endometrial Cancer, Endometrial Cancer Precursors, Ovarian Cancer, Complex Atypical Endometrial Hyperplasia
- Trial name
- DETECT (NCT03538665)
- Where
- United States
- Volunteers
- 1,700 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Somatic Mutation, Ocular Melanoma
iSITE: Investigation of Somatic Alterations in Tumours of the Eye
Modern DNA sequencing technologies enable researchers to identify mutations that have been acquired during the lifetime of patients (somatic mutations).
- Trial name
- iSITE (NCT06861647)
- Testing
- sample collection, Discussing study/seeking consent, Completion of Study Questionnaire
- Where
- United Kingdom
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Ovarian Cancer
Study of IMP4297 in Patients With BRCA1/2 Mutation Ovarian Cancer
A phase II, multi-center, open-label, single-arm, non-randomized study to evaluate the efficacy, safety and tolerability of IMP4297 capsules in subjects with germline and/or somatic BRCA1/2 mutated advanced ovarian cancer in china
- Trial name
- SABRINA (NCT04089189)
- Testing
- IMP4297
- Where
- China
- Volunteers
- 93 people
- Sponsor
- Impact Therapeutics, Inc.
Paraganglioma, Pheochromocytoma
Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study
Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late.
- Conditions
- Paraganglioma, Pheochromocytoma, Genetic Predisposition to Disease, Pathology
- Trial name
- PPGL-Pred (NCT04788927)
- Where
- 2 sites in Denmark
- Volunteers
- 400 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Colorectal Cancer
Evaluation of Somatic Mutation Spectrum as Biomarker for Survival Outcome in Chinese CRC
By analyse the tissue/blood variant spectrum model using NGS, the present clinical trial aims to elucidate the genetic basis of CRC in Chinese; to establish of CRC genetic map in Chinese patients; to identification new genetic…
- Trial name
- NCT04228614
- Where
- China
- Volunteers
- 1,500 people
- Sponsor
- Sun Yat-sen University
Myelodysplastic Syndromes
An European Platform for Translational Research in Myelodysplastic Syndromes
Rationale Myelodysplastic syndromes (MDS) are rare cancers with unmet medical needs. Study of MDS has been rapidly transformed by genome characterization.
- Trial name
- NCT04174547
- Where
- 4 sites in France, Germany and 2 more
- Volunteers
- 8,670 people
- Sponsor
- Istituto Clinico Humanitas