Clinical trials: Mutation
Breast Cancer, PI3K, Alpelisib
SAFIR-PI3K A Phase II Randomized Maintenance Trial Comparing Alpelisib and Fulvestrant Versus Chemotherapy in PIK3CA Mutated Advanced Breast Cancer
SAFIR PI3K is an open-label multicenter phase II randomized trial, comparing alpelisib plus fulvestrant to maintenance chemotherapy in patient PIK3CA mutated with HR+/Her2- metastatic breast cancer who do not present progressive…
- Trial name
- SAFIR-PI3K (NCT03386162)
- Testing
- Alpelisib, Chemotherapy
- Where
- 14 sites in France
- Volunteers
- 31 people
- Sponsor
- UNICANCER
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Solid Tumor Cancer, PDAC
IN10018 in Combination With RNK08954 for the Treatment of KRASG12D Mutation-Positive Locally Advanced or Metastatic Solid Tumors
This is a multicenter, open-label, Phase Ib/II clinical study. The study includes Phase Ib-Dose Exploration Stage and Phase II - Efficacy Exploration and Determination Stage.
- Trial name
- NCT07441174
- Testing
- IN10018 in combination with RNK08954
- Where
- 14 sites in China
- Volunteers
- 92 people
- Sponsor
- InxMed (Shanghai) Co., Ltd.
Caucasian Patients With EGFR Mutation Positive Advanced NSCLC
Efficacy, Safety, Tolerability of Gefitinib as 1st Line in Caucasian Patients With EGFR Mutation Positive Advanced NSCLC
This study is carried out to see how Caucasian patients with lung cancer which has EGFR mutation will respond to gefitinib (IRESSA™) as a first line treatment.
- Trial name
- IFUM (NCT01203917)
- Testing
- Gefitinib
- Where
- 61 sites in Bulgaria, France and 11 more
- Volunteers
- 1,060 people
- Sponsor
- AstraZeneca
Acute Myeloid Leukemia
Detection of IDH2 Mutations and Monitoring Molecular Residual Disease in Patients With AML
1. Detection of IDH2 mutations in AML patients to define it incidence and correlation with clinical characteristics, relapse-free and overall survival. 2.
- Trial name
- NCT03537560
- Where
- Taiwan
- Volunteers
- 334 people
- Sponsor
- Chang Gung Memorial Hospital
Low Grade Ovarian Serous Adenocarcinoma, Ovarian Cancer
A Study of Avutometinib (VS-6766) v. Avutometinib (VS-6766) + Defactinib in Recurrent Low-Grade Serous Ovarian Cancer With and Without a KRAS Mutation
This study will assess the safety and efficacy of avutometinib (VS-6766) monotherapy and in combination with defactinib in subjects with recurrent Low-Grade Serous Ovarian Cancer (LGSOC)
- Trial name
- RAMP 201 (NCT04625270)
- Testing
- avutometinib (VS-6766), avutometinib (VS-6766) and defactinib
- Where
- 47 sites in United States, Belgium and 5 more
- Volunteers
- 225 people
- Sponsor
- Verastem, Inc.
Breast Cancer, Ovarian Cancer
Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation
Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non…
- Conditions
- Breast Cancer, Ovarian Cancer, Colorectal Cancer, Pediatric Cancers
- Trial name
- PANEL (NCT02664389)
- Testing
- Genetic analysis
- Where
- France
- Volunteers
- 289 people
- Sponsor
- University Hospital, Rouen
Myoclonus Epilepsies, Progressive
Safety, Blood Levels and Effects of AUT00201 in Patients With MEAK
A randomized, double-blind, placebo-controlled, crossover study to assess the safety, tolerability, and pharmacokinetics of single doses of AUT00201 at 100 mg or matching placebo in patients with myoclonus epilepsy and ataxia due…
- Trial name
- AUT022201 (NCT05873062)
- Testing
- AUT00201
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Autifony Therapeutics Limited
Myeloproliferative Neoplasm, Unclassifiable, Essential Thrombocythemia
CALR Exon 9 Mutant Peptide Vaccine to Patients With CALR-mutant Myeloproliferative Neoplasms
A phase-I-first in man study in patients with calreticulin(CALR)-mutant MPN by vaccinating with exon 9 mutated peptide with the adjuvant Montanide ISA-51 to monitor safety and toxicity and the immunological response to…
- Conditions
- Myeloproliferative Neoplasm, Unclassifiable, Essential Thrombocythemia, Myelofibrosis
- Trial name
- NCT03566446
- Testing
- CALRLong36 peptide
- Where
- Denmark
- Volunteers
- 10 people
- Sponsor
- Inge Marie Svane
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
DNA Sequencing
Ivermectin Neurotoxicity and ABCB1 Gene Mutations
The study report a unique case of severe intoxication in a child treated with oral ivermectin to prevent scabies infection. The ABCB1 gene sequencing found the child compound heterozygote for two nonsense mutations, one in each…
- Trial name
- NCT04174469
- Where
- France
- Volunteers
- 3 people
- Sponsor
- University Hospital, Montpellier
Advanced or Metastatic Solid Tumors Irrespective of Gene Alterations, Non-Small Cell Lung Cancer
Phase 1b/2 Study of Futibatinib in Combination With Binimetinib in Patients With Advanced KRAS Mutant Cancer
Phase 1b/2 study to evaluate the FGFRi futibatinib in combination with the MEKi binimetinib in patients with advanced KRASmt tumors.
- Conditions
- Advanced or Metastatic Solid Tumors Irrespective of Gene Alterations, Non-Small Cell Lung Cancer, KRAS Gene Mutation
- Trial name
- NCT04965818
- Testing
- Futibatinib and Binimetinib
- Where
- 3 sites in United States
- Volunteers
- 38 people
- Sponsor
- Taiho Oncology, Inc.
Breast Cancer, HER2-low Breast Cancer
Distribution of the Homologous Recombination-related (HRR) Genesmutationsand HRD in Breast Cancer
This is a cross-sectional and an observational study, investigator-initiated study in HER2-low breast cancer patients. Approximately 255 subjects with HRD (homologous recombination deficiency) assessment will be enrolled in this…
- Trial name
- NCT05466786
- Testing
- Standard Management
- Where
- China
- Volunteers
- 255 people
- Sponsor
- Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
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
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
HIV-1-infection, DRM
Primary and Secondary Drug Resistance Mutations (DRMs) in HIV As a Risk Factor of Failure of ART, Including Two Drugs Based Regimens.
The presence of drug resistance mutations (DRMs) in HIV plays an important role in ART effectiveness. Despite very good results of ART, there is constant concern about the emergence of HIV strains with DRMs, what may lead to…
- Conditions
- HIV-1-infection, DRM, DRM Gene Mutation, ART
- Trial name
- NCT06661317
- Testing
- no intervention
- Where
- Poland
- Volunteers
- 200 people
- Sponsor
- Medical University of Warsaw
X-Linked Retinitis Pigmentosa
Gene Therapy for Subjects With RPGR Mutation-associated X-linked Retinitis Pigmentosa
A clinical trial of gene therapy for patients with X-linked retinitis pigmentosa (XLRP).
- Trial name
- NCT05874310
- Testing
- FT-002
- Where
- 2 sites in China
- Volunteers
- 18 people
- Sponsor
- Frontera Therapeutics
Frontotemporal Dementia (FTD), GRN Related Frontotemporal Dementia
Predict to Prevent PGRN Disease
Progranulin (GRN or PGRN) mutations are among the most common genetic causes of frontotemporal lobar degeneration (FTLD). With the advent of gene-specific therapeutic interventions, an accurate knowledge of the presymptomatic…
- Trial name
- PREVENT-PGRN (NCT06711510)
- Testing
- Clinical, behavioral and cognitive evaluation, blood sampling, brain MRI
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Relapsed Ovarian Cancer, BRCA Mutation, Platinum Sensitivity
Olaparib Treatment in Relapsed Germline Breast Cancer Susceptibility Gene (BRCA) Mutated Ovarian Cancer Patients Who Have Progressed at Least 6 Months After Last Platinum Treatment and Have Received at Least 2 Prior Platinum Treatments
Comparison of olaparib vs. physician's choice of single agent standard of care non-platinum based chemotherapy in patients with germline Breast Cancer susceptibility gene (gBRCA) mutated ovarian cancer who have progressed at…
- Trial name
- SOLO3 (NCT02282020)
- Testing
- OLAPARIB, Single agent chemotherapy
- Where
- 94 sites in United States, Argentina and 11 more
- Volunteers
- 266 people
- Sponsor
- AstraZeneca
Hyperoxaluria (Disorder)
Oxalate Excretion Profile in Patients With a Heterozygous Mutation of the AGXT (Alanine-glyoxylate Aminotransferase) Gene
Primary hyperoxaluria type I (PH1) is a rare genetic disorder responsible for severe lithiasis leading to progressive deterioration of renal function and end-stage renal failure.
- Trial name
- HETEROX (NCT06283082)
- Testing
- Lithiasis assessment
- Where
- France
- Volunteers
- 25 people
- Sponsor
- Hospices Civils de Lyon