Clinical trials: Mutations
Acute Myeloid Leukemia, Relapsed Adult AML
Ivosidenib Expanded Access Program in Relapsed/Refractory AML With an IDH1 Mutation
To provide access to ivosidenib monotherapy to patients with relapsed or refractory acute myeloid leukemia (AML) with an isocitrate dehydrogenase 1 (IDH1) mutation.
- Conditions
- Acute Myeloid Leukemia, Relapsed Adult AML, Relapsed Pediatric AML
- Trial name
- NCT03245424
- Testing
- ivosidenib (AG-120)
- Sponsor
- Agios Pharmaceuticals, Inc.
Hiv
HIV-1 Subtype-specific Drug Resistance in Patients Failing Dolutegravir (DTG) Based Regimen
This is a prospective observational study enrolling People Living with HIV (PLHIV) who are on a Dolutegravir-based AntiRetroviral Treatment (ART) regimen and experiencing virologic failure.
- Trial name
- DTG-Resist (NCT06285110)
- Where
- 22 sites in Argentina, Brazil and 14 more
- Volunteers
- 1,103 people
- Sponsor
- University of Bern
AML, Childhood, Relapse/Recurrence
Safety and Efficacy of Avapritinib in Relapsed or Refractory Pediatric CBF-AML With KIT Mutation
The purpose of this study is to evaluate the efficacy and safety of avapritinib in relapsed or refractory pediatric core binding factor acute myeloid leukemia with KIT mutation.
- Conditions
- AML, Childhood, Relapse/Recurrence, Refractory AML, Core Binding Factor Acute Myeloid Leukemia
- Trial name
- NCT06316960
- Testing
- Avapritinib, Azacitidine Injection, Decitabine Injection
- Where
- 12 sites in China
- Volunteers
- 50 people
- Sponsor
- Children's Hospital of Soochow University
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
Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns.
- Conditions
- Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III, Roifman Syndrome, Lowry Wood Syndrome
- Trial name
- ATAC (NCT06111950)
- Testing
- Blood samples, Skin biopsies, Fetal samples
- Where
- 6 sites in France
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
BRAF V600 Mutation, Low-grade Glioma
Dabrafenib and Trametinib for BRAF V600 Mutant Low-Grade Gliomas
This phase II trial studies how well de-escalating the drugs dabrafenib and trametinib works in treating patients with low-grade gliomas that have a BRAF V600 gene mutation.
- Conditions
- BRAF V600 Mutation, Low-grade Glioma, Low Grade Glioma of Brain, Recurrent Low Grade Glioma
- Trial name
- PNOC037 (NCT07110246)
- Testing
- Dabrafenib, Trametinib, Magnetic Resonance Imaging (MRI)
- Where
- 12 sites in United States
- Volunteers
- 96 people
- Sponsor
- University of California, San Francisco
Advanced Cancers
Phosphatidylinositol 3 Kinase and Mammalian Target of Rapamycin (PI3K-mTOR) in Advanced Cancer Patients
The goal of this clinical research study is to learn if temsirolimus can help to control advanced cancer in patients who also have a PI3K mutation and/or PTEN loss. The safety of this drug will also be tested.
- Trial name
- NCT00877773
- Testing
- Temsirolimus
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- M.D. Anderson Cancer Center
Cystic Fibrosis
A Pilot Study to Evaluate the Use of Smart Adherence Technology to Measure Lumacaftor/Ivacaftor Adherence in CF Subjects Homozygous for the F508del CFTR Mutation
The study will evaluate the impact of smart adherence technology for monitoring on lumacaftor/ivacaftor (LUM/IVA) adherence rates among subjects 16 years of age and older with Cystic Fibrosis (CF) who are homozygous for the…
- Trial name
- NCT02823470
- Testing
- LUM/IVA, activated smart device, de-activated smart device
- Where
- 11 sites in United States, Canada
- Volunteers
- 24 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Childhood Alveolar Soft-part Sarcoma, Childhood Angiosarcoma
Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas
This research trial studies genes in tissue samples from younger and adolescent patients with soft tissue sarcomas. Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about…
- Conditions
- Childhood Alveolar Soft-part Sarcoma, Childhood Angiosarcoma, Childhood Desmoplastic Small Round Cell Tumor, Childhood Epithelioid Sarcoma
- Trial name
- NCT01567046
- Testing
- laboratory biomarker analysis
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Children's Oncology Group
Breast Cancer
A Study to Learn About the Safety of TALZENNA for the Treatment of Breast Cancer
The purpose of this study is to learn about the safety of TALZENNA for the patients with breast cancer that cannot be removed by surgery and has come back.
- Trial name
- NCT06735742
- Where
- Japan
- Volunteers
- 3 people
- Sponsor
- Pfizer
Zinc Fingers Proteins
Prevalence of a Non-Expressing 11B Mutation in Aka Peoples of the Central African Republic
The CCCH tandem zinc finger proteins are members of a small family of proteins that regulate the stability of certain types of mRNA containing so-called class II AU-rich elements in their 3'-untranslated regions.
- Trial name
- NCT00340769
- Where
- 3 sites in United States, Central African Republic
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Hereditary Pancreatitis, PRSS1 Gene Mutation
French National Cohort of Patients With PRSS1 Mutations
The diagnosis of hereditary pancreatitis (PH) is based on a genetic criterion - detection of a mutation in the PRSS1 gene or on a genealogical criterion - the presence of chronic pancreatitis in at least 2 first-degree relatives…
- Trial name
- PARADISIO 1 (NCT07413029)
- Testing
- collecting their health data from their medical file and completing questionnaires.
- Where
- France
- Volunteers
- 800 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Leber's Congenital Amaurosis
Study to Evaluate QR-110 in Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
The purpose of this study is to evaluate the safety and tolerability of QR-110 administered via intravitreal injection in subjects with LCA due to the CEP290 p.Cys998X mutation.
- Trial name
- NCT03140969
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 11 people
- Sponsor
- Laboratoires Thea
Lamin A/C Gene Mutation, Dilated Cardiomyopathy, Familial
The Deep Phenotype of Lamin A/C Cardiomyopathy
This study seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called 'Lamin'.
- Trial name
- NCT03860454
- Where
- 6 sites in United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University College, London
Abnormalities, Blood Coagulation Disorder
Study of Abnormal Blood Clotting in Children With Stroke
Effective treatment and prevention strategies for childhood stroke and porencephaly can only be developed once the causes are understood.
- Conditions
- Abnormalities, Blood Coagulation Disorder, Brain Disease, Cerebrovascular Accident
- Trial name
- NCT00001927
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Cystic Fibrosis
Study of Ataluren (PTC124™) in Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder caused by a mutation in the gene that makes the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
- Trial name
- NCT00803205
- Testing
- Ataluren
- Where
- 38 sites in United States, Belgium and 9 more
- Volunteers
- 238 people
- Sponsor
- PTC Therapeutics
ATM Gene Mutation, ATR Gene Mutation
Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer
This phase II trial studies how well talazoparib works in treating patients with homologous recombination repair deficiency (HRRD) positive stage IV squamous cell lung cancer that has come back after previous treatment.
- Conditions
- ATM Gene Mutation, ATR Gene Mutation, BARD1 Gene Mutation, BRCA1 Gene Mutation
- Trial name
- NCT03377556
- Testing
- Laboratory Biomarker Analysis, Pharmacological Study, Talazoparib
- Where
- 1,157 sites in United States, Canada
- Volunteers
- 51 people
- Sponsor
- SWOG Cancer Research Network
Pancreas Adenocarcinoma
Verification of Predictive Biomarkers for Pancreatic Cancer Treatment Using Multicenter Liquid Biopsy
This study is for verification of predictive biomarkers for pancreatic cancer treatment using multi-center liquid biopsy.
- Trial name
- NCT04241367
- Where
- South Korea
- Volunteers
- 420 people
- Sponsor
- National Cancer Center, Korea
Non Squamous Non Small Cell Lung Cancer, EGFR Positive Non-small Cell Lung Cancer
Neoadjuvant Toripalimab for Non-squamous NSCLC With EGFR Mutation
This study was designed to investigate the efficacy and safety of neoadjuvant Toripalimab (anti-PD1) plus chemotherapy for patients with resectable II-IIIB non-squamous NSCLC harboring EGFR mutation, and to explore the potential…
- Trial name
- NCT05962021
- Testing
- Toripalimab plus Chemotherapy
- Volunteers
- 126 people
- Sponsor
- Peking University People's Hospital
Neurodegenerative Diseases
Study of Neurodegenerative Diseases Induced Stem Cells in Patients and Healthy Family Controls.
Neurological and neurodegenerative diseases have a major impact in families and in the national health service due to the lack in many cases of effective and long-lasting therapies.
- Trial name
- NeuronsiPS (NCT03682458)
- Testing
- Study of Neurodegenerative Diseases Induced Stem Cells
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- Neuromed IRCCS