Clinical trials: De Novo Mutation
Developmental Disorders
Risk of Recurrence of de Novo Mutations: Research and Quantification of Paternal Germinal Mosaicism by the Combined Use of Genomic Tools
1. Inclusion of 5 families Inclusions will be made by the clinical genetics department of the Rouen University Hospital (monocentric study) and will correspond to trios of parents + child with unexplained developmental…
- Trial name
- RRMUT (NCT04564235)
- Testing
- genome-wide analyses, Search for de novo mutations in paternal sperm samples
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen
NSCLC
De Novo Resistance to Epidermal Growth Factor Receptor-Tyrosine Kinase Inhibitors
This study is based on the following hypothesis "De novo resistance to EGFR-TKI in EGFR mutation positive patients is related with mutations in EGFR downstream genes".
- Trial name
- NCT01697163
- Volunteers
- 155 people
- Sponsor
- Severance Hospital
Mendelian Disorders, Genetic Disorder
Delineation of Novel Monogenic Disorders in the United Arab Emirates Population
The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Sequencing - Panel/WES/WGS) methodologies in…
- Conditions
- Mendelian Disorders, Genetic Disorder, Novel Mutation, Hereditary Disorder
- Trial name
- NCT03589079
- Testing
- Sanger and/or Next Generation Sequencing (NGS)
- Where
- United Arab Emirates
- Volunteers
- 150 people
- Sponsor
- Imperial College London Diabetes Centre
BRCA-Mutated, Neuroendocrine-Differentiated Aggressive Metastatic Castration-Sensitive Prostate Cancer
Carboplatin-Enhanced Therapy in BRCA-Mutated or Neuroendocrine-Differentiated Aggressive Metastatic Castration-Sensitive Prostate Cancer
The current standard of patients with de novo metastatic hormone sensitive prostate cancer (mHSPC) is to offer androgen deprivation therapy (ADT) with androgen receptor pathway inhibitors (ARPI).
- Conditions
- BRCA-Mutated, Neuroendocrine-Differentiated Aggressive Metastatic Castration-Sensitive Prostate Cancer, Prostate Cancer
- Trial name
- CaBRA (NCT07591467)
- Testing
- Experimental
- Where
- 5 sites in France
- Volunteers
- 330 people
- Sponsor
- Gustave Roussy, Cancer Campus, Grand Paris
Neurofibromatosis Type 1
Molecular Aspects of Preimplantation Genetic Diagnosis for NF1
Neurofibromatosis 1 (NF1) is a multisystem disorders characterized by skin abnormalities, such as café-au-lait spots and neurofibromas, learning disabilities, skeletal anomalies and vascular complications.
- Trial name
- NF1 (NCT05149469)
- Where
- France
- Volunteers
- 60 people
- Sponsor
- University Hospital, Strasbourg, France
Acute Myeloid Leukemia
A Study to Compare Standard Chemotherapy to Therapy With CPX-351 and/or Gilteritinib for Patients With Newly Diagnosed AML With or Without FLT3 Mutations
This phase III trial compares standard chemotherapy to therapy with liposome-encapsulated daunorubicin-cytarabine (CPX-351) and/or gilteritinib for patients with newly diagnosed acute myeloid leukemia with or without FLT3…
- Trial name
- NCT04293562
- Testing
- Allogeneic Hematopoietic Stem Cell Transplantation, Asparaginase Erwinia chrysanthemi, Biospecimen Collection
- Where
- 206 sites in United States, Australia and 2 more
- Volunteers
- 1,400 people
- Sponsor
- Children's Oncology Group
Advanced Non-small Cell Lung Cancer
A Phase I/II, Multicenter, Open-label Study of EGFRmut-TKI EGF816, Administered Orally in Adult Patients With EGFRmut Solid Malignancies
This is a Phase I/II, multi-center, open-label study, composed with a Phase I part (dose-escalation phase) followed by a Phase II part (expansion phase).
- Trial name
- NCT02108964
- Testing
- EGF816
- Where
- 14 sites in United States, Canada and 7 more
- Volunteers
- 225 people
- Sponsor
- Novartis Pharmaceuticals
Newly Diagnosed Acute Myeloid Leukemia (AML), Untreated AML
Safety Study of AG-120 or AG-221 in Combination With Induction and Consolidation Therapy in Participants With Newly Diagnosed Acute Myeloid Leukemia (AML) With an IDH1 and/or IDH2 Mutation
The purpose of this Phase I, multicenter, clinical trial is to evaluate the safety of AG-120 and AG-221 when given in combination with standard AML induction and consolidation therapy.
- Conditions
- Newly Diagnosed Acute Myeloid Leukemia (AML), Untreated AML, AML Arising From Myelodysplastic Syndrome (MDS), AML Arising From Antecedent Hematologic Disorder (AHD)
- Trial name
- NCT02632708
- Testing
- AG-120, AG-221, cytarabine
- Where
- 17 sites in United States, Germany and 1 more
- Volunteers
- 153 people
- Sponsor
- Institut de Recherches Internationales Servier
De Novo Mutation, Preimplantation Genetic Testing
Optimized PGT-M Strategy for Patients With No Proband
The clinical practice of PGT-M for monogenetic disease usually adopted a double-checking strategy, which detect the mutation by Sanger sequencing and meantime construct haplotypes using the DNA sample of the proband so as to…
- Conditions
- De Novo Mutation, Preimplantation Genetic Testing, Without Proband
- Trial name
- NCT06722313
- Testing
- Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband
- Where
- China
- Volunteers
- 5 people
- Sponsor
- ShangHai Ji Ai Genetics & IVF Institute
Leukemia, Myelodysplastic Syndromes
Vaccine Therapy in Treating Patients With Myelodysplastic Syndrome
RATIONALE: A vaccine made from a person's myelodysplasia cells may make the body build an immune response to kill cancer cells. Combining vaccine therapy with sargramostim may kill more cancer cells.
- Trial name
- NCT00003959
- Testing
- ras peptide cancer vaccine, sargramostim
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome
Natural Killer Cells Before and After Donor Stem Cell Transplant in Treating Patients With Acute Myeloid Leukemia, Myelodysplastic Syndrome, or Chronic Myelogenous Leukemia
This phase I/II studies the side effects and best dose of natural killer cells before and after donor stem cell transplant and to see how well they work in treating patients with acute myeloid leukemia, myelodysplastic syndrome…
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome, Acute Myeloid Leukemia With Gene Mutations, Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
- Trial name
- NCT01904136
- Testing
- Allogeneic Hematopoietic Stem Cell Transplantation, Bone Marrow Transplantation, Cyclophosphamide
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- M.D. Anderson Cancer Center
Fertility Issues, Single-Gene Defects
Whole Genome Sequencing (WGS) on IVF Embryos and Individual Patients
This research project aims to utilise recent advances in whole genome sequencing of preimplantation genetic diagnosis embryos to investigate the impact of paternal age on de novo mutation rates in IVF embryos.
- Trial name
- EmbryoWGS (NCT05739890)
- Testing
- Embryo genome sequencing, Parents genome sequencing
- Where
- 4 sites in United States, Turkey (Türkiye)
- Volunteers
- 100 people
- Sponsor
- GenEmbryomics Pty. Ltd
Myelofibrosis, Myelofibrosis Due to and Following Polycythemia Vera
Flonoltinib Maleate Oral Regimens in Patients With Myelofibrosis
The goal of this clinical trial is to learn which of three different doses of Flonoltinib Maleate taken by mouth daily works best to treat adult patients with myelofibrosis in whom the most common approved therapy has failed to…
- Conditions
- Myelofibrosis, Myelofibrosis Due to and Following Polycythemia Vera, Myelofibrosis Transformation in Essential Thrombocythemia, Myelofibrosis With High Molecular Risk Mutations
- Trial name
- FM-MF-02 (NCT07750574)
- Testing
- Flonoltinib Maleate orally
- Volunteers
- 105 people
- Sponsor
- Chengdu Zenitar Biomedical Technology Co., Ltd