Clinical trials: Genetic Change
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.
Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia
Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
This phase II trial tests whether treosulfan, fludarabine, and rabbit antithymocyte globulin (rATG) work when given before a blood or bone marrow transplant (conditioning regimen) to cause fewer complications for patients with…
- Conditions
- Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Hereditary Sideroblastic Anemia
- Trial name
- NCT04965597
- Testing
- Treosulfan, Fludarabine Phosphate, Tacrolimus
- Where
- 24 sites in United States
- Volunteers
- 40 people
- Sponsor
- Fred Hutchinson Cancer Center
Chromosome Disorders
Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood
This purpose of this study is to develop noninvasive methods of prenatal diagnosis. Fetal cells can be found in maternal blood. This study is designed to isolate these fetal cells from a sample of the pregnant woman's blood and…
- Trial name
- NCT00064597
- Where
- 5 sites in United States
- Volunteers
- 3,500 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Brain Tumors
International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma
The study PNET 5 MB has been designed for children with medulloblastoma of standard risk (according to the risk-group definitions which have been used so far; e.g. in PNET 4).
- Trial name
- NCT02066220
- Testing
- Radiotherapy without Carboplatin, Reduced-intensity maintenance chemotherapy, Radiotherapy with Carboplatin
- Where
- 77 sites in Austria, Belgium and 14 more
- Volunteers
- 360 people
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
Acute Lymphoblastic Leukemia, Acute Lymphoblastic Leukemia, Adult
International Trial of Selumetinib in Combination With Dexamethasone for the Treatment of Acute Lymphoblastic Leukaemia
This trial is to investigate the combination of selumetinib and dexamethasone in the treatment of acute lymphoblastic leukaemia (ALL) in both adults and children.
- Conditions
- Acute Lymphoblastic Leukemia, Acute Lymphoblastic Leukemia, Adult, Acute Lymphoblastic Leukemia, Pediatric, Acute Lymphoblastic Leukemia, in Relapse
- Trial name
- SeluDex (NCT03705507)
- Testing
- Selumetinib, Dexamethasone
- Where
- 17 sites in Denmark, Netherlands and 1 more
- Volunteers
- 12 people
- Sponsor
- University of Birmingham
Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma
Combination Treatment (Talazoparib Plus Avelumab) for Stage IV or Recurrent Non-Squamous Non-Small Cell Lung Cancer With STK11 Gene Mutation (A LUNG-MAP Treatment Trial)
This phase II LUNG-MAP treatment trial studies how well combination treatment (talazoparib plus avelumab) works in treating patients with non-squamous non-small cell lung cancer that has an STK11 gene mutation and has come back…
- Conditions
- Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma, Stage IV Lung Cancer AJCC v8, Stage IVA Lung Cancer AJCC v8
- Trial name
- NCT04173507
- Testing
- Avelumab, Talazoparib, Talazoparib Tosylate
- Where
- 325 sites in United States
- Volunteers
- 47 people
- Sponsor
- SWOG Cancer Research Network
Hemophilia B
Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype
It appears that the mutation p.Ile112Thr in the factor IX gene confers a discrepancy between mild factor IX level and severe bleeding phenotype. Databases and litterature analysis are poor on this matter.
- Trial name
- Hémophilie B (NCT03946384)
- Testing
- data collection
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Medium-chain Acyl-CoA Dehydrogenase Deficiency
Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
This is a medical research study to test a medication in patients 10 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 A>G (K304E) mutation.
- Trial name
- NCT06069375
- Testing
- Sodium phenylbutyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Jerry Vockley, MD, PhD
Glioma, Molecular Sequence Variation
Survival Significance of Molecular Pathology and Genetic Variation in Brain Gliomas
This study aims to collect clinical, radiological, pathological, molecular and genetic data including detailed clinical parameters, MR and histopathology images, molecular pathology and genetic data.
- Conditions
- Glioma, Molecular Sequence Variation, Genetic Change
- Trial name
- NCT04216537
- Testing
- Glioma groups based on molecular pathology or genetic variation
- Where
- China
- Volunteers
- 3,000 people
- Sponsor
- The First Affiliated Hospital of Zhengzhou University
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
Cystic Fibrosis
Treatment With Elexacaftor/Tezacaftor/Ivacaftor, in Patients With Cystic Fibrosis and Caloric Intake
The aim of the study is to describe the evolution of caloric intake in patients with cystic fibrosis with an indication to start treatment with Elexacaftor/Tezacaftor/Ivacaftor according to the Marketing Authorization, between…
- Trial name
- NUTRIMUCO (NCT06072365)
- Testing
- nutritional intake questionnaire
- Where
- 3 sites in France
- Volunteers
- 120 people
- Sponsor
- University Hospital, Toulouse
Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child
Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
This is a long-term follow up study evaluating the safety of BPX-501 T cells (rivogenlecleucel) and infused in pediatric patients previously enrolled on the BP-004 study.
- Conditions
- Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child, Lymphoma, Non-Hodgkin, Myelodysplastic Syndromes
- Trial name
- NCT03733249
- Testing
- Rimiducid, rivogenlecleucel
- Where
- Italy
- Volunteers
- 187 people
- Sponsor
- Bellicum Pharmaceuticals
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Tourette Syndrome, Tic Disorders
Trajectories of Change in Tourette Syndrome
This K23 Career Development Award is designed to provide the training needed for the PI to achieve her long-term career goal of conducting independent, programmatic intervention research in developmental populations.
- Trial name
- NCT06679790
- Testing
- Comprehensive Behavioral Intervention for Tics
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Minnesota
FLT3-mutated Acute Myeloid Leukemia
A Global Study of Midostaurin in Combination With Chemotherapy to Evaluate Safety, Efficacy and Pharmacokinetics in Newly Diagnosed Pediatric Patients With FLT3 Mutated AML
This study will evaluate the safety, efficacy and pharmacokinetics of midostaurin in combination with standard chemotherapy in pediatrics patients with newly diagnosed FLT3-mutated Acute Myeloid Leukemia.
- Trial name
- NCT03591510
- Testing
- Midostaurin, Fludarabine, Cytarabine
- Where
- 15 sites in Czechia, Germany and 8 more
- Volunteers
- 22 people
- Sponsor
- Novartis Pharmaceuticals
Arthrogryposis Multiplex Congenita, Piezo2 Mutation Gain of Function
Piezo2-related Arthrogryposis & physiopathOLOgy 3
Study type: Observational, non-interventional, single-center, descriptive study. Goal of the study: The goal of this observational study is to characterize the intensity, variability, and qualitative features of pain in patients…
- Trial name
- PAOLO3 (NCT07360574)
- Where
- France
- Volunteers
- 12 people
- Sponsor
- University Hospital, Grenoble
Chronic Granulomatous Disease
Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease
This study will investigate the safety and effectiveness of a new stem cell transplant procedure for treating chronic granulomatous disease (CGD) in patients with active infection.
- Trial name
- NCT00006417
- Testing
- Stem cell transplantation
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Primary Mitochondrial Diseases
A First in Human Study to Evaluate the Safety of Infusion of MNV-BM-PLC (Autologous CD34+ Cells Enriched With Placenta Derived Allogeneic Mitochondria) in Patients With Primary Mitochondrial Diseases Associated With Mitochondrial DNA Mutation or Deletion
The study objectives are to evaluate the safety of a single intravenous (IV) infusion of autologous CD34+ cells enriched with placenta-derived allogeneic mitochondria in participant with primary mitochondrial disease associated…
- Trial name
- NCT04548843
- Testing
- Bone Marrow mobilization, Apheresis, MNV-BM-PLC infusion
- Where
- Israel
- Sponsor
- Minovia Therapeutics Ltd.
Diabetes Mellitus
Efficacy and Safety Study of Sulfonylureas in Neonatal Diabetes Mellitus
The aim of our trial is to try to switch patients with permanent neonatal diabetes mellitus due to a Kir6.2 or SUR1 activating mutation from subcutaneous insulin to oral glibenclamide therapy.
- Trial name
- GLIDKIR6-2 (NCT00610038)
- Testing
- glibenclamide
- Where
- France
- Volunteers
- 19 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older With the G551D Mutation
The purpose of this study was to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis aged 12 years and older who have the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR)…
- Trial name
- STRIVE (NCT00909532)
- Testing
- Ivacaftor
- Where
- 65 sites in United States, Australia and 6 more
- Volunteers
- 167 people
- Sponsor
- Vertex Pharmaceuticals Incorporated