Clinical trials: Mutations
Neoplastic Syndromes, Hereditary, Cancer
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
- Conditions
- Neoplastic Syndromes, Hereditary, Cancer, Genetic Predisposition to Disease
- Trial name
- PREDICT (NCT04903782)
- Testing
- Family-based whole genome sequencing
- Where
- 3 sites in Australia
- Volunteers
- 270 people
- Sponsor
- Sydney Children's Hospitals Network
Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation
Rucaparib in Treating Patients With Genomic LOH High and/or Deleterious BRCA1/2 Mutation Stage IV or Recurrent Non-small Cell Lung Cancer (A Lung-MAP Treatment Trial)
This phase II Lung-MAP trial studies how well rucaparib works in treating patients with genomic loss of heterozygosity (LOH) high and/or deleterious BRCA1/2 mutation stage IV non-small cell lung cancer or that has come back.
- Conditions
- Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Loss of Heterozygosity, Lung Non-Small Cell Squamous Carcinoma
- Trial name
- NCT03845296
- Testing
- Rucaparib
- Where
- 950 sites in United States
- Volunteers
- 64 people
- Sponsor
- SWOG Cancer Research Network
Medullary Thyroid Cancer, Infantile Myofibromatosis
A Study of Oral LOXO-292 (Selpercatinib) in Pediatric Participants With Advanced Solid or Primary Central Nervous System (CNS) Tumors
This is an open-label, multi-center Phase 1/2 study of oral LOXO-292 in pediatric participants with an activating rearranged during transfection (RET) alteration and an advanced solid or primary CNS tumor.
- Conditions
- Medullary Thyroid Cancer, Infantile Myofibromatosis, Infantile Fibrosarcoma, Papillary Thyroid Cancer
- Trial name
- LIBRETTO-121 (NCT03899792)
- Testing
- Selpercatinib
- Where
- 26 sites in United States, Australia and 9 more
- Volunteers
- 36 people
- Sponsor
- Eli Lilly and Company
Non-small Cell Lung Cancer, Leptomeningeal Metastasis
A Multi-center Prospective Observational Biomarker Study on EGFRm+ Non-small Cell Lung Cancer Patients With Leptomeningeal Metastasis
Leptomeningeal metastasis (LM) is one of the disastrous events when managing advanced Non-small cell lung cancer (NSCLC) due to a grave prognosis.
- Trial name
- NCT02803619
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Peking Union Medical College Hospital
Pro-opiomelanocortin (POMC) Deficiency Obesity
Setmelanotide for the Treatment of Early-Onset Pro-Opiomelanocortin (POMC) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with pro-opiomelanocortin (POMC) deficiency or proprotein convertase subtilisin/kexin type…
- Trial name
- NCT02896192
- Testing
- Setmelanotide
- Where
- 7 sites in United States, Belgium and 5 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
CTNNB1 Neurodevelopmental Syndrome
CTNNB1 Neurodevelopmental Syndrome - Natural History Study
The aim of the Dragonfly study is to characterise and monitor the neurodevelopment of children and adults diagnosed with CTNNB1 syndrome through an international collaborative effort.
- Trial name
- Dragonfly (NCT07167732)
- Testing
- A General Medical and Neurological Assessment, World Health Organisation (WHO) Motor Milestones, Burke-Fahn-Marsden Dystonia Rating Scale
- Where
- 2 sites in Australia, Slovenia
- Volunteers
- 250 people
- Sponsor
- University Medical Centre Ljubljana
Non-Small Cell Lung Cancer
KOREA Study (Korea Osimertinib Real World Evidence Study to Assess Safety and Efficacy)
The objectives of this study are to assess the safety and efficacy of single agent Tagrisso (Osimertinib, hereinafter "the study drug") in a real world setting in adult patients with advanced or metastatic, epidermal growth…
- Trial name
- KOREA (NCT02777567)
- Where
- South Korea
- Volunteers
- 315 people
- Sponsor
- AstraZeneca
Crohn Disease
Search for New Genetic Mutations Major Effect in Crohn's Disease
This study highlight genetics mutations with major effect in Crohn's Disease (CD) by WES in individuals affected and healthy individuals from EPIMAD Inserm InVS registry families.
- Trial name
- MC-WES (NCT02851134)
- Testing
- genetic analysis, blood and stools samples
- Where
- France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Lille
X-Linked Retinitis Pigmentosa
4D-125 in Patients With X-Linked Retinitis Pigmentosa (XLRP)
This is a Phase 1/2 multicenter study with two parallel parts: an observational natural history cohort and an open-label, prospective interventional trial in males with non-syndromic X-linked retinitis pigmentosa (XLRP) due to…
- Trial name
- NCT04517149
- Testing
- 4D-125 IVT Injection, Observational
- Where
- 8 sites in United States
- Volunteers
- 21 people
- Sponsor
- 4D Molecular Therapeutics
Desmoid, Desmoid Fibromatosis of Skin
Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis
In this study Drug-eluting microbeads (DEB) loaded with Doxorubicin will be delivered into the target Desmoid Fibromatoses (DF) tissue via selective arterial embolization by angiographic technique.
- Conditions
- Desmoid, Desmoid Fibromatosis of Skin, Desmoid Neoplasm of Chest Wall, Desmoid Tumor Caused by Somatic Mutation
- Trial name
- NCT03966742
- Testing
- Drug Eluting Bead Embolization (DEB) for Desmoid Fibromatosis
- Where
- Israel
- Volunteers
- 8 people
- Sponsor
- Rabin Medical Center
Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy
Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD).
- Trial name
- NCT07778641
- Testing
- Whole exome sequencing.
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Sohag University
Li-Fraumeni Syndrome, TP53 Gene Mutation
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g.
- Conditions
- Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis
- Trial name
- LiFT_UP (NCT04541654)
- Testing
- Data and Specimen Collection
- Where
- 3 sites in United States
- Volunteers
- 1,500 people
- Sponsor
- Dana-Farber Cancer Institute
Amyotrophic Lateral Sclerosis (ALS)
Personalized Antisense Oligonucleotide Therapy for Participants With TARDBP ALS
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for participants with amyotrophic lateral sclerosis (ALS) due to a pathogenic variant in TARDBP.
- Trial name
- NCT07743268
- Testing
- nL-TARDB-006
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- n-Lorem Foundation
Malignant Hyperthermia
Gene Mutation Spectrum of Malignant Hyperthermia in China
In this study, case information and specimens of patients with malignant hyperthermia(MH) will be collected from all over China, and gene fragment analysis, sanger sequencing method and/or high-throughput whole-genome sequencing…
- Trial name
- NCT04474860
- Testing
- gene sequencing
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- West China Hospital
CEBPA Double Mutation, Acute Myeloid Leukemia
Efficacy of HAD Induction With Intensified Cytarabine in Newly-diagnosed CEBPA Double Mutated Acute Myeloid Leukemia
Acute myeloid leukemia is a heterogenous hematological malignancy, characterized by different cytogenetic or molecular features.
- Trial name
- NCT04415008
- Testing
- HAD induction with intermediate dose cytarabine
- Where
- China
- Volunteers
- 61 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Lymphoma, Follicular
A Study of Tazemetostat on Safety in Participants With Relapsed or Refractory Follicular Lymphoma With Enhancer of Zeste Homolog 2 (EZH2) Gene Mutation in Japan
The primary purpose of the study is to investigate the safety of tazemetostat in participants with relapsed or refractory follicular lymphoma with EZH2 gene mutation under daily clinical practice.
- Trial name
- NCT05228158
- Testing
- Tazemetostat
- Where
- 135 sites in Japan
- Volunteers
- 145 people
- Sponsor
- Eisai Co., Ltd.
Melanoma
Adjuvant Dabrafenib (GSK2118436) in Patients With Surgically Resected AJCC Stage IIIC Melanoma Characterized by a BRAFV600E/K Mutation
In this study, the investigator's want to find out if dabrafenib can stop stage IIIC melanoma from coming back after surgery.
- Trial name
- NCT01682213
- Testing
- Dabrafenib
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Lung Neoplasms
Efficacy of EGFR TKIs in Patients With Rare EGFR-mutated NSCLC
Lung cancer is the leading cause of cancer-related death worldwide and is well known to remain a major health problem. Non-small-cell lung cancer (NSCLC) constitutes more than 80% of all the cases of lung cancer.
- Trial name
- NCT01775943
- Where
- South Korea
- Volunteers
- 90 people
- Sponsor
- Ulsan University Hospital
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Breast Cancer, Cervical Cancer
Study of DNA Mutations in Predicting the Effect of External-Beam Radiation Therapy in Patients With Early Breast Cancer, Localized Prostate Cancer, or Gynecological Cancer
RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Conditions
- Breast Cancer, Cervical Cancer, Endometrial Cancer, Fallopian Tube Cancer
- Trial name
- NCT00601406
- Testing
- gene expression analysis, gene rearrangement analysis, polymorphism analysis
- Where
- 11 sites in United Kingdom
- Volunteers
- 2,200 people
- Sponsor
- The Christie NHS Foundation Trust