Clinical trials: Mutation
Metastatic Solid Tumor, SF3B1 Gene Mutation
Patient Response to Immunotherapy Using Spliceosome Mutational Markers (PRISMM)
This study is being done to see if patients with metastatic solid tumors (hematologic malignancies and lymphoma excluded) who have a specific genetic mutation in patients' tumor (the SF3B1, U2AF1 or SRSF2 mutation), are more…
- Conditions
- Metastatic Solid Tumor, SF3B1 Gene Mutation, Spliceosome Mutation, U2AF1 Gene Mutation
- Trial name
- PRISMM (NCT04447651)
- Testing
- Recommendation for treatment with immunotherapy
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Non-Small Cell Lung Cancer
Study of Oral EGFR Inhibitor DZD6008 Combined With Sunvozertinib in Patients Who Have Advanced NSCLC With EGFR Mutations (TIAN-SHAN8)
This study will treat patients with advanced NSCLC harboring EGFR mutations. This is the first study to test DZD6008 combined with sunvozertinib in patients, which will help to understand what type of side effects with the…
- Trial name
- NCT07079475
- Testing
- DZD6008, Sunvozertinib, Osimertinib
- Where
- 14 sites in China
- Volunteers
- 220 people
- Sponsor
- Dizal Pharmaceuticals
Parkinson Disease
Non Motor Symptoms in Glucocerebrosidase-related Parkinson's Disease
The goal of this observational study is to describe non motor symptoms in a prospective study of patients with Parkinson's disease associated to glucocerebrosidase (GBA-PD) mutations.
- Trial name
- PROGENS-PD (NCT06451419)
- Testing
- Tests on non motor symptoms
- Where
- 2 sites in Spain
- Volunteers
- 40 people
- Sponsor
- Juan Pablo Romero. MD, PhD
Dentatorubral-Pallidoluysian Atrophy
Personalized Antisense Oligonucleotide for A Single Participant With ATN1 Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide…
- Trial name
- NCT07084311
- Testing
- nL-ATN1-002
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Ovary Cancer
Olaparib Real-world Utilization and Clinical Outcomes in France, Italy, and the UK
This is a retrospective observational medical records review study of BRCA mutated advanced (FIGO stage III-IV) ovarian cancer patients who received first dose maintenance olaparib in 1L setting in France, Italy and the UK.
- Trial name
- OVAL-1 (NCT04532645)
- Testing
- Olaparib
- Where
- 55 sites in France, Italy and 1 more
- Volunteers
- 342 people
- Sponsor
- AstraZeneca
Cardiomyopathy, Hypertrophic, Familial
Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease
Genetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information.
- Trial name
- NCT00001881
- Where
- United States
- Volunteers
- 9,999 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Non-Small Cell Lung Cancer
Tarlox and Sotorasib in Patients With KRAS G12C Mutations
This is a Phase IB dose expansion trial with safety lead-in evaluating the safety, clinical activity/efficacy of the combination of tarloxotinib and sotorasib in patients with KRAS G12C mutation who have progressed on any small…
- Trial name
- NCT05313009
- Testing
- Sotorasib and Tarloxotinib
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Medical University of South Carolina
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Prospective Research of Outcomes After Salpingo-oophorectomy
PROSper is a prospective cohort study of 100 women 35-50 years of age with BRCA 1/2 mutations who have elected to either undergo risk reducing salpingo-oophorectomy (RRSO) or nonsurgical management.
- Trial name
- PROSper (NCT01948609)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of California, San Francisco
MEN1 Gene Mutation
Leflunomide Treatment for MEN1 Patients - the LUMEN1 Trial
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder due to mutations in the tumor suppressor gene MEN1 with the corresponding gen product menin.
- Trial name
- LUMEN1 (NCT05605587)
- Testing
- Leflunomide 20 mg
- Where
- Switzerland
- Volunteers
- 3 people
- Sponsor
- University Hospital, Basel, Switzerland
Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia
Blinatumomab and Combination Chemotherapy or Dasatinib, Prednisone, and Blinatumomab in Treating Older Patients With Acute Lymphoblastic Leukemia
This phase II trial studies the side effects and how well blinatumomab and combination chemotherapy or dasatinib, prednisone, and blinatumomab work in treating older patients with acute lymphoblastic leukemia.
- Conditions
- Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia With t(9;22)(q34.1;q11.2); BCR-ABL1, Recurrent Acute Lymphoblastic Leukemia
- Trial name
- NCT02143414
- Testing
- Biopsy Procedure, Biospecimen Collection, Blinatumomab
- Where
- 195 sites in United States
- Volunteers
- 53 people
- Sponsor
- National Cancer Institute (NCI)
Pancreas Cancer
Phase II Trial of Vemurafenib and Sorafenib in Pancreatic Cancer
The purpose of this research is to determine the benefit of two oral chemotherapy drugs, Vemurafenib and Sorafenib, in individuals with KRAS mutated pancreatic cancer who have progressed on standard chemotherapy.
- Trial name
- NCT05068752
- Testing
- Vemurafenib, Sorafenib
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- HonorHealth Research Institute
Differentiated Thyroid Cancer (DTC)
Study of Efficacy and Safety of Dabrafenib in Combination With Trametinib in Previously Treated Patients With Metastatic, Radio-active Iodine Refractory BRAF V600E Mutation Positive Differentiated Thyroid Cancer
The purpose of this study is to assess the efficacy and safety of dabrafenib in combination with trametinib for treating adult patients with locally advanced or metastatic Differentiated Thyroid Cancer (DTC) harboring the…
- Trial name
- NCT04940052
- Testing
- Dabrafenib, Trametinib
- Where
- 41 sites in United States, Argentina and 9 more
- Volunteers
- 153 people
- Sponsor
- Novartis Pharmaceuticals
NSCLC
Conmana Combined With Thalidomide to Treat NSCLC
Our study the NSCLC harbors EGFR-mutation with Conmana combined with thalidomide as first-line treatment, is expected to improve further EGFR-Tyrosine kinase inhibitors (TKI) response rate (ORR), prolong time to progression…
- Trial name
- NCT02778893
- Testing
- Conmana, Thalidomide
- Where
- China
- Volunteers
- 67 people
- Sponsor
- Henan Provincial People's Hospital
Hemophilia A, Hemophilia B
Study of Ataluren (PTC124) in Hemophilia A and B
Hemophilia A (HA) and hemophilia B (HB) are inherited bleeding disorders caused by mutations in the gene for factor VIII (FVIII) and factor IX (FIX), respectively. These proteins are essential for blood clotting.
- Trial name
- NCT00947193
- Testing
- Ataluren
- Where
- 13 sites in United States, Canada and 2 more
- Volunteers
- 13 people
- Sponsor
- PTC Therapeutics
Amyotrophic Lateral Sclerosis
Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
Individuals with Amyotrophic Lateral Sclerosis (ALS) carrying the C9orf72 HRE mutation (C9Pos) often exhibit different phenotypic traits compared to other patients (C9Neg), presenting a more aggressive form of the disease, with…
- Trial name
- C9survALS (NCT07302321)
- Testing
- Survey for ALS patients, Survey for Caregivers
- Where
- 3 sites in Italy
- Volunteers
- 208 people
- Sponsor
- Istituto Auxologico Italiano
Inherited Retinal Dystrophy Primarily Involving Sensory Retina, Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
To develop comprehensive genetic maps of inherited retinal diseases in Korean Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype…
- Trial name
- NCT03613948
- Where
- South Korea
- Volunteers
- 280 people
- Sponsor
- Gangnam Severance Hospital
Non-small Cell Lung Cancer
A Phase III Study to Assess the Efficacy and Safety of Almonertinib Versus Platinum-based Chemotherapy as First-line Therapy in Patients With Locally Advanced or Metastatic NSCLC Harbouring Uncommon EGFR Mutation
To assess the efficacy and safety of Almonertinib versus platinum-based chemotherapy as first-line therapy in patients with locally advanced or metastatic non-small cell lung cancer (NSCLC) harboring uncommon EGFR mutation.
- Trial name
- NCT04951648
- Testing
- Almonertinib, chemotherapy
- Where
- China
- Volunteers
- 220 people
- Sponsor
- Jiangsu Hansoh Pharmaceutical Co., Ltd.
Creutzfeldt-Jakob Disease (CJD)
A Natural History Study of Preclinical Genetic Creutzfeldt-Jakob Disease (CJD)
Creutzfeldt-Jakob Disease (CJD) is the most common prion disease in humans causing a rapidly progressive neurological decline and dementia and is invariably fatal.
- Trial name
- NHS_CJD (NCT05746715)
- Where
- Israel
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Refractory AML, Relapsed Adult AML
A Non-interventional Ambispective Real-world Cohort of rEfractory and reLapsed (R/R) FLT3 Mutated Acute MyEloid Leukemia (AML) Patients Treated With Gilteritinib in FrANCE
Gilteritinib is available in early access in France through Temporary Authorisation of Use (or ATU program) since March 2019. The ATU program reflects a real-life treatment situation and the related clinical data would help to…
- Conditions
- Refractory AML, Relapsed Adult AML, FLT3-TKD Mutation, FLT3-ITD
- Trial name
- ELEGANCE (NCT05193448)
- Where
- 38 sites in France
- Volunteers
- 177 people
- Sponsor
- French Innovative Leukemia Organisation
AML, FLT3-ITD Mutation
Italian Non-Interventional Study of FLT3 Mutated AML Patients
This is an observational study involving a retrospective and prospective collection of clinical and molecular data regarding patients with AML with FLT3+ mutations
- Conditions
- AML, FLT3-ITD Mutation, FLT3-TKD Mutation
- Trial name
- FLAM (NCT03547258)
- Testing
- Clinical and Molecular data collection
- Where
- 33 sites in Italy
- Volunteers
- 800 people
- Sponsor
- Istituto Romagnolo per lo Studio dei Tumori Dino Amadori IRST S.r.l. IRCCS
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