Clinical trials: Mutation
Li Fraumeni Syndrome
LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome)
The purpose of this study is to compare the diagnostic efficacy of two follow-up schedules for the early detection of cancers in the population under study on cancer incidence at 3 years.
- Trial name
- LIFSCREEN (NCT01464086)
- Testing
- whole body MRI
- Where
- France
- Volunteers
- 107 people
- Sponsor
- Gustave Roussy, Cancer Campus, Grand Paris
Cystic Fibrosis, CFTR Gene Mutation
Validation of Therapeutic Efficacy Targeting the Splicing Variants in Cystic Fibrosis and CFTR Pathologies
Cystic Fibrosis, an inherited autosomal recessive disease, arises from mutations in the CFTR gene. For intronic mutations affecting splicing events, oligonucleotides therapy has the potential to restore the production of the full…
- Trial name
- ONB-CFTR (NCT05100823)
- Testing
- Nasal cells sampling, Rectal biopsy sampling
- Where
- France
- Volunteers
- 16 people
- Sponsor
- University Hospital, Montpellier
Advanced or Metastatic Solid Tumors Irrespective of Gene Alterations, Advanced or Metastatic Solid Tumors With Germline PTEN Inactivating Mutations
TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Mutations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and antitumor activity of TAS-117 in patients with advanced or metastatic solid tumors (excluding primary brain tumors)…
- Trial name
- NCT04770246
- Testing
- TAS-117
- Where
- 8 sites in United States, Austria and 2 more
- Volunteers
- 17 people
- Sponsor
- Taiho Oncology, Inc.
Triple Negative Breast Cancer
A Trial Using ctDNA Blood Tests to Detect Cancer Cells After Standard Treatment to Trigger Additional Treatment in Early Stage Triple Negative Breast Cancer Patients
c-TRAK TN is a multi-centre phase II study, consisting of a circulating tumour DNA (ctDNA) surveillance component and a therapeutic component.
- Trial name
- c-TRAK-TN (NCT03145961)
- Testing
- Pembrolizumab
- Where
- 17 sites in United Kingdom
- Volunteers
- 208 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Intrauterine Growth Retardation
Genetic Study of Insulin-Like Growth Factor-I Receptor Mutations in Patients With Intrauterine Growth Retardation
OBJECTIVES: I. Determine if mutations in the gene encoding the insulin-like growth factor-I receptor lead to relative insulin-like growth factor-I insensitivity and produce intrauterine growth retardation in children.
- Trial name
- NCT00005105
- Where
- 5 sites in United States
- Volunteers
- 75 people
- Sponsor
- National Center for Research Resources (NCRR)
Sequence Analysis
Analysis of Tumor Mutations and Tumor Microenvironment Using Archival Paraffin-embedded Tumor Specimens
Genomic alterations have long been recognized as an important factor in tumor formation and drive tumor cell growth. However, the degree of genomic mutation (tumor mutation load, TMB) varies widely between tumors.
- Trial name
- NCT03719222
- Testing
- non intervention
- Where
- Taiwan
- Volunteers
- 600 people
- Sponsor
- ACT Genomics
Single Gene Disorders
Clinical Use of Parental Support To Detect Single Gene Mutations
Gene Security Network has developed a novel technology called Parental Support (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- NCT01197872
- Testing
- Preimplantation Genetic Diagnosis
- Where
- United States
- Volunteers
- 240 people
- Sponsor
- Natera, Inc.
Farber Disease, Farber's Disease
Farber Disease Natural History Study
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber…
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency
- Trial name
- NCT03233841
- Where
- 15 sites in United States, Argentina and 7 more
- Volunteers
- 45 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Inflammatory Disease, Genetic Disease
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
- Conditions
- Inflammatory Disease, Genetic Disease, Somatic Mutation, Molecular Sequence Variation
- Trial name
- SAIDiag (NCT05364294)
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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
Amaurosis of Leber, Retinal Diseases
Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations
A recombinant adeno-associated virus serotype 2 (rAAV2) vector has been altered to carry the human RPE65 (hRPE65) gene. This vector has been shown to restore vision in animal models that resemble human RPE65-associated Leber…
- Trial name
- LCA (NCT00481546)
- Testing
- rAAV2-CBSB-hRPE65
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- University of Pennsylvania
Breast Neoplasms
The Efficacy of Fulvestrant in ESR1(Estrogen Receptor 1) Mutated Metastatic Breast Cancer
This is an open-label, single arm, phase II trial to evaluate the efficacy and safety of 500mg Fulvestrant (Faslodex®) in ESR1 mutated postmenopausal women with hormone receptor positive, HER2 negative locally advanced or…
- Trial name
- NCT03202862
- Testing
- Fulvestrant
- Volunteers
- 50 people
- Sponsor
- Fudan University
Advanced Cancer, Solid Tumor
Vemurafenib in Combination With Everolimus or Temsirolimus With Advanced Cancer
The goal of this clinical research study is to find the highest tolerable dose of vemurafenib that can be given in combination with either everolimus or temsirolimus. The safety of these drug combinations will also be studied.
- Trial name
- NCT01596140
- Testing
- Vemurafenib, Everolimus, Temsirolimus
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- M.D. Anderson Cancer Center
WHIM Syndrome
A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome
This natural history study is a prospective and retrospective, observational study of WHIM patients. WHIM syndrome is a rare, genetic, primary immunodeficiency disorder (a disorder in which the body's immune system does not…
- Trial name
- NCT03087370
- Testing
- No intervention
- Sponsor
- X4 Pharmaceuticals
Marfan Syndrome
Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients
The major clinical problems in patients with Marfan Syndrome (MFS) are aortic root dilation (ARD), dissection and rupture. Although the available treatments (beta-blockers, BBs) improve the evolution of the disease, they do not…
- Trial name
- MaNeLo (NCT00683124)
- Testing
- Losartan and nebivolol, Losartan, Nebivolol
- Where
- Italy
- Volunteers
- 291 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
FLT3-ITD Mutation, FLT3/TKD Mutation
Individual Patient Compassionate Use of Crenolanib
Compassionate use of crenolanib for patients with serious life-threatening illness that have exhausted all available therapies used to treat the disease, with no other viable therapy options, who is not eligible for clinical…
- Conditions
- FLT3-ITD Mutation, FLT3/TKD Mutation, PDGFR-Alpha D842V, PDGFRA Gene Amplification
- Trial name
- NCT03620318
- Testing
- Crenolanib besylate
- Where
- Italy
- Sponsor
- Arog Pharmaceuticals, Inc.
Carcinoma, Non-Small-Cell Lung
Survey on the Treatment Reality of Patients With Epidermal Growth Factor Receptor (EGFR) Mutation-positive Non-small Cell Lung Cancer(NSCLC)
According to the recent report using EGFR tyrosine kinase inhibitors (EGFR-TKI), there is all over survival of the EGFR gene mutation-positive NSCLC in a tendency to extension.
- Trial name
- NCT02475720
- Where
- Japan
- Volunteers
- 2,000 people
- Sponsor
- AstraZeneca
Low-grade Glioma
Expanded Access Program (EAP) for Tovorafenib (DAY101) in RAF-Altered, Relapsed or Refractory Low-Grade Glioma
The DAY101-EAP is a multicenter, open-label, expanded access treatment protocol designed to provide access to tovorafenib (DAY101) for eligible patients.
- Trial name
- NCT05760586
- Testing
- Tovorafenib
- Sponsor
- Day One Biopharmaceuticals, Inc.
Langerhans Cell Histiocytosis
A Combination of Vemurafenib, Cytarabine and 2-chlorodeoxyadenosine in Children With LCH and BRAF V600E Mutation
Langerhans cell histiocytosis (LCH) is a disease caused by clonal expansion, proliferation, and dissemination of cells that are phenotypically close to Langerhans cells in different tissues and organs.
- Trial name
- NCT03585686
- Testing
- Vemurafenib, Cytarabine, 2-chlorodeoxyadenosine
- Where
- Russia
- Volunteers
- 12 people
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Lung Cancer
Vaccine Therapy and Sargramostim in Treating Patients With Non-small Cell Lung Cancer
RATIONALE: Vaccines may make the body build an immune response to kill tumor cells. Colony-stimulating factors such as sargramostim may increase the number of immune cells found in bone marrow or peripheral blood.
- Trial name
- NCT00005630
- Testing
- ras peptide cancer vaccine, sargramostim
- Where
- United States
- Sponsor
- Memorial Sloan Kettering Cancer Center