Clinical trials: Gene Mutations
Biliary Tract Cancers, Intrahepatic Cholangiocarcinoma (Icc)
Phase 2 Study of Daraxonrasib in Recurrent KRAS-Mutant Biliary Tract Cancer
The purpose of this study is to evaluate the anti-tumor efficacy of daraxonrasib monotherapy in patients with unresectable or advanced/metastatic, KRAS-mutant BTC who have progressed on or are intolerant of 1st line systemic…
- Conditions
- Biliary Tract Cancers, Intrahepatic Cholangiocarcinoma (Icc), Extrahepatic Cholangiocarcinoma, Gallbladder Carcinoma
- Trial name
- NCT07793253
- Testing
- Daraxonrasib
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
ATM Gene Mutation, BRCA1 Gene Mutation
Docetaxel, Carboplatin, and Rucaparib Camsylate in Treating Patients With Metastatic Castration Resistant Prostate Cancer With Homologous Recombination DNA Repair Deficiency
This phase II trial studies how well docetaxel with carboplatin followed by rucaparib camsylate works in treating patients with metastatic castration resistant prostate cancer (spread outside of prostate and resistant to…
- Conditions
- ATM Gene Mutation, BRCA1 Gene Mutation, BRCA2 Gene Mutation, Castration Levels of Testosterone
- Trial name
- NCT03442556
- Testing
- Carboplatin, Docetaxel, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- University of Washington
Breast Cancer, Prostate Cancer
AZD5363 in Patients With Advanced Solid Tumors Harboring AKT Mutations
This study will test the recommended dose of AZD5363 (recommended from a previous phase 1 study of the drug) in patients with specific AKT mutations.
- Conditions
- Breast Cancer, Prostate Cancer, Advanced Solid Tumors
- Trial name
- NCT03310541
- Testing
- AZD5363, Enzalutamide, Fulvestrant
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Pulmonary Alveolar Proteinosis, Mutation Ala393Thr of the MARS Gene
Administration of Methionine in Patients With Pulmonary Alveolar Proteinosis by Mutation of the MARS Gene.
The purpose of this study is to determine the safety and tolerance of an oral administration of methionine in the treatment of pulmonary alveolar proteinosis due to the double mutation Ala393Thr / Ser567Leu in the MARS gene.
- Conditions
- Pulmonary Alveolar Proteinosis, Mutation Ala393Thr of the MARS Gene, mutationSer567Leu of the MARS Gene
- Trial name
- MetPAP (NCT03887169)
- Testing
- Methionine, Vitamin B12, B9, B6, C supplementation, Methionine/homocysteine Dosage
- Where
- France
- Volunteers
- 3 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity.
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder
- Trial name
- NCT07329257
- Testing
- No Intervention: Observational Cohort
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Advanced Cholangiocarcinoma, FGFR2 Gene Mutation
Phase 3 Study of BGJ398 (Oral Infigratinib) in First Line Cholangiocarcinoma With FGFR2 Gene Fusions/Translocations
Infigratinib is an oral drug which selectively binds to fibroblast growth factor receptor (FGFR) 2 and is being developed to treat participants with FGFR2 mutated cholangiocarcinoma.
- Trial name
- NCT03773302
- Testing
- BGJ398, Gemcitabine, Cisplatin
- Where
- 116 sites in United States, Australia and 13 more
- Volunteers
- 48 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Chronic Myelomonocytic Leukemia (CMML)
Cobimetinib in Newly Diagnosed or HMA-treated CMML Patients With RAS Pathway Mutations
This is an open-label, nonrandomized phase 2 trial to assess the efficacy of cobimetinib in RAS pathway activated CMML. All eligible patients will be treated daily with cobimetinib in 28-day cycles.
- Trial name
- CONCERTO (NCT04409639)
- Testing
- Cobimetinib
- Where
- 3 sites in United States
- Volunteers
- 14 people
- Sponsor
- University of Utah
ER-positive and HER2-negative Metastatic or Locally Advanced Breast Cancer, a Germline or Somatic BRCA Mutation, or a Deleterious Alteration of Other Genes Involved in Homologous Recombination Repair (HRR) or in MSI Status
Durvalumab, With Olaparib and Fulvestrant in Advanced ER+, HER2- Breast Cancer Patients.
This study evaluates the efficacy of the combination of olaparib, durvalumab, and fulvestrant for the treatment of patients with ER-positive, HER2-negative, locally advanced or metastatic breast cancer with BRCA gene alterations…
- Trial name
- DOLAF (NCT04053322)
- Testing
- Durvalumab, Olaparib, Fulvestrant
- Where
- 2 sites in France
- Volunteers
- 172 people
- Sponsor
- UNICANCER
Recurrent Melanoma, Stage IIIB Melanoma
Trametinib in Treating Patients With Advanced Melanoma With BRAF Non-V600 Mutations
This phase II trial studies trametinib in treating patients with melanoma with v-Raf murine sarcoma viral oncogene homolog B (BRAF) non-V600 mutations that has spread to other places in the body.
- Conditions
- Recurrent Melanoma, Stage IIIB Melanoma, Stage IIIC Melanoma, Stage IV Melanoma
- Trial name
- NCT02296112
- Testing
- trametinib, laboratory biomarker analysis, pharmacological study
- Where
- 4 sites in United States
- Volunteers
- 9 people
- Sponsor
- Vanderbilt-Ingram Cancer Center
Fabry Disease
Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
The primary objective of this study was to compare the effect of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) versus placebo on kidney globotriaosylceramide (GL-3).
- Trial name
- NCT00925301
- Testing
- migalastat hydrochloride
- Where
- 28 sites in United States, Argentina and 11 more
- Volunteers
- 67 people
- Sponsor
- Amicus Therapeutics
Breast Adenocarcinoma, Deleterious BRCA1 Gene Mutation
Talazoparib Before Standard Therapy in Treating Patients With Invasive, BRCA-Mutated Breast Cancer
This phase II trial studies the side effects of talazoparib when given before standard therapy in treating patients with breast cancer that has spread to nearby healthy tissue and has a mutation in a breast cancer, early onset…
- Conditions
- Breast Adenocarcinoma, Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, HER2/Neu Negative
- Trial name
- NCT02282345
- Testing
- Laboratory Biomarker Analysis, Talazoparib
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- M.D. Anderson Cancer Center
Parkinson Disease
Characteristics of Parkinson s Disease Associated With the LRRK-2 Gene Mutation
This study will identify symptoms and other characteristics of Parkinson s disease that may be associated with changes in a gene called leucine-rich repeat kinase 2 (LRRK2).
- Trial name
- NCT00467090
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Non-small Cell Lung Cancer, Histiocytic Neoplasm
Phase 1/2 Trial of S241656 in Selected RAS/MAPK Mutation- Positive Malignancies
BDTX-4933-101 is a first-in-human, open-label, Phase 1/2 dose escalation, dose optimization and expansion study designed to evaluate the safety and tolerability of S241656 as monotherapy and in combination with other anti-cancer…
- Conditions
- Non-small Cell Lung Cancer, Histiocytic Neoplasm, Histiocytosis, BRAF Gene Mutation
- Trial name
- NCT05786924
- Testing
- S241656, FOLFOX6/FOLFOX7, FOLFIRI
- Where
- 49 sites in United States, Australia and 8 more
- Volunteers
- 554 people
- Sponsor
- Institut de Recherches Internationales Servier
Germline Mutations
Early Diagnosis of High-grade Serous Epithelial Ovarian Cancer Through the Analysis of DNA Derived From Pap Test Smear.
Ovarian cancer is the leading cause of death among gynecological malignancies. No screening test is available for this tumor. Serous Tubal Intraepithelial Carcinoma (STIC) is the precursor lesion of the high grade serous ovarian…
- Trial name
- EVATEST (NCT07556562)
- Testing
- RRSO (risk-reducing salpingo- oophorectomy) or RRS (risk-reducing salpingectomy)
- Where
- Italy
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies
Single Ascending Dose Study in Participants With LCA10
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound…
- Conditions
- Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies, Eye Diseases, Hereditary, Retinal Disease
- Trial name
- NCT03872479
- Testing
- EDIT-101
- Where
- 5 sites in United States
- Volunteers
- 34 people
- Sponsor
- Editas Medicine, Inc.
Cystic Fibrosis
Ivacaftor Treatment in 4 Month to 2 Year Old CF Subjects
The purpose of this research study is to determine the effects of clinically prescribed ivacaftor treatment on 4-24 month old children with CF and gating mutations on sleeping energy expenditure, growth status and gut health and…
- Trial name
- NCT03783286
- Testing
- Ivacaftor
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Children's Hospital of Philadelphia
Tubo-ovarian Carcinoma, High-grade Serous Carcinoma
Risk-reducing Strategies, Including Fimbriectomy, in Women With a Germline Mutation Predisposing to Ovarian or Pelvic Cancer
FIMBRIMENOP-2402 study aims to evaluate the long-term management of cancer risks in premenopausal women who have a genetic predisposition to tubo-ovarian or primary peritoneal carcinoma, such as mutations in BRCA1, BRCA2, RAD51C…
- Conditions
- Tubo-ovarian Carcinoma, High-grade Serous Carcinoma, Primary Peritoneal Carcinoma Stage III, Primary Peritoneal Carcinoma Stage IV
- Trial name
- FIMBRIMENOP (NCT06726330)
- Testing
- Fimbriectomy Followed by Delayed Oophorectomy (F-DO), Bilateral Salpingo-Oophorectomy
- Where
- 23 sites in France
- Volunteers
- 1,100 people
- Sponsor
- Centre Oscar Lambret
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Retinal Dystrophy
A Study of LX107 Gene Therapy in AIPL1-IRD Patients
Administering subretinal injection of LX107 injection (a gene therapy drug) to patients with retinal dystrophy caused by AIPL1 gene mutation to evaluate its efficacy and safety.
- Trial name
- NCT07063030
- Testing
- LX107 Injection
- Where
- China
- Volunteers
- 13 people
- Sponsor
- Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
Lung Cancer
BELIEF (Bevacizumab and ErLotinib In EGFR Mut+ NSCLC)
Rationale: Advanced non-small-cell lung cancer (NSCLC) patients harbouring epidermal growth factor receptor (EGFR) mutations (del19 or L858R) show an impressive progression-free survival between 9 and 14 months when treated with…
- Trial name
- BELIEF (NCT01562028)
- Testing
- Erlotinib, Bevacizumab
- Where
- 48 sites in France, Germany and 6 more
- Volunteers
- 109 people
- Sponsor
- ETOP IBCSG Partners Foundation
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