Clinical trials: Gene Mutations
RAS Mutation, Ras (Kras or Nras) Gene Mutation
Leflunomide or Combination of MEK Inhibitor and Hydroxychloroquine for Refractory Patients With RAS Mutations
There is a huge variety of nucleotide substitutions that activate RAS. The search for new "universal" drugs for the RAS pathway that either interfere with RAS upregulation upstream in the signaling pathway or offset the…
- Conditions
- RAS Mutation, Ras (Kras or Nras) Gene Mutation, Colorectal Cancer Recurrent, Pancreas Cancer
- Trial name
- NТО-RAS (NCT06229340)
- Testing
- Leflunomide, The combination of MEK inhibitor + hydroxychloroquine( plaquenil) ± bevacizumab
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- N.N. Petrov National Medical Research Center of Oncology
Genetic Disease, Nonsense Mutation
A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele.
- Conditions
- Genetic Disease, Nonsense Mutation, Cystinosis
- Trial name
- NCT04069260
- Testing
- ELX-02
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Infection, Human Immunodeficiency Virus I, HIV Infection
Observational Study Of A Protease Inhibitor (PI) Containing Regimen In Subjects With PI Mutations Selected During Prior Treatment With GW433908 (Fosamprenavir)
This study will assess the efficacy of subsequent protease inhibitor (PI)-containing therapy in subjects who have acquired HIV-1 protease mutations whilst receiving a GW433908 (fosamprenavir)-containing regimen.
- Trial name
- NCT00242840
- Testing
- No intervention; Observational study
- Where
- 7 sites in United States, Italy
- Volunteers
- 20 people
- Sponsor
- ViiV Healthcare
Metastatic Castration Resistant Prostate Cancer, Metastatic Cancer
Immunotherapy in Patients With Metastatic Cancers and CDK12 Mutations
This study will attempt to determine the efficacy of checkpoint inhibitor immunotherapy with nivolumab and ipilimumab combination therapy followed by nivolumab monotherapy in patients with metastatic prostate cancer and other…
- Conditions
- Metastatic Castration Resistant Prostate Cancer, Metastatic Cancer, Solid Tumor
- Trial name
- IMPACT (NCT03570619)
- Testing
- Nivolumab, Ipilimumab
- Where
- 8 sites in United States
- Volunteers
- 56 people
- Sponsor
- University of Michigan Rogel Cancer Center
IDH Mutation, IDH1 Mutation
A Study of Fedratinib With IDH Inhibition in Advanced-Phase, IDH-Mutated Ph-Negative Myeloproliferative Neoplasms
The purpose of this research is to gather information on the safety and effectiveness of fedratinib (a drug called a "jak inhibitor" ) in combination with ivosidenib or enasidenib (two anti-cancer drugs).
- Conditions
- IDH Mutation, IDH1 Mutation, IDH2 Gene Mutation, Blood Cancer
- Trial name
- NCT04955938
- Testing
- Ivosidenib, Enasidenib, Fedratinib
- Where
- United States
- Sponsor
- University of Chicago
KRAS Gene Mutation
Phase 2 Study of TVB-2640 in KRAS Non-Small Cell Lung Carcinomas
This is a prospective one-arm, two-stage phase 2 trial of TVB-2640 in KRAS mutant NSCLC patients. 13 patients will be treated with a minimum of 1 cycle of TVB-2640 therapy over 8 weeks.
- Trial name
- NCT03808558
- Testing
- TVB-2640
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- David E Gerber
EGFR Gene Mutation
EGFR-TKIs Combine With Anlotinib as First-line Treatment for Patients With Advanced EGFR Mutation-positive NSCLC
A single arm study: EGFR-TKIs Combine With Anlotinib as First-line Treatment in patients with EGFR-mutant non-small-cell lung cancer (NSCLC).
- Trial name
- NCT03720873
- Testing
- erlotinib or gefitinib or icotinib, Anlotinib
- Where
- China
- Volunteers
- 90 people
- Sponsor
- Fujian Cancer Hospital
Carcinoma, Renal Cell
DFF332 as a Single Agent and in Combination With Everolimus & Immuno-Oncology Agents in Advanced/Relapsed Renal Cancer & Other Malignancies
This was a first in human study of DFF332, a small molecule that targets a protein called HIF2α. By acting on HIF2α, DFF332 may be able to stop the growth of certain types of cancer.
- Trial name
- NCT04895748
- Testing
- DFF332, RAD001, PDR001
- Where
- 11 sites in United States, Czechia and 5 more
- Volunteers
- 40 people
- Sponsor
- Novartis Pharmaceuticals
Non-small Cell Lung Cancer Confirmed by Histopathology or Cytology, The TNM (8th) Phase is IV
the Efficacy and Safety of Dalpiciclib Combined With Third-generation EGFR-TKI in Patients With EGFR Mutation and Meningial Metastasis in Non-small Cell Lung Cancer Progressing Through Third-generation TKI and Platinum-containing Two-drug Chemotherapy
Efficacy and safety of Dalpiciclib combined with third-generation EGFR-TKI in patients with advanced EGFR-mutated non-small cell lung cancer with meningeal metastasis after third-generation TKI and platinum-containing chemotherapy
- Conditions
- Non-small Cell Lung Cancer Confirmed by Histopathology or Cytology, The TNM (8th) Phase is IV, With EGFR Mutations, Meningeal Progression Occurred After Previous Platinum-containing Two-drug Chemotherapy and Third-generation EGFR-TKI Treatment
- Trial name
- NCT05497076
- Volunteers
- 9 people
- Sponsor
- Fujian Cancer Hospital
Non-Small Cell Lung Cancer (NSCLC)
A Study to Evaluate the Impact of Management Strategies on Gastrointestinal-Related Adverse Events in Participants With Non-Small Cell Lung Cancer Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion Mutations Receiving TAK-788
The purpose of the study is to characterize the incidence and severity of TAK-788-associated diarrhea in previously treated participants with locally advanced or metastatic non-small-cell lung cancer (NSCLC) whose tumors harbor…
- Trial name
- NCT04576208
- Testing
- TAK-788, Antidiarrheal prophylaxis
- Sponsor
- Takeda
Long QT Syndrome
Mutation-specific Therapy for the Long QT Syndrome
Novel therapy for the Long QT Syndrome based on the mechanism of action of the disease-causing mutations Long QT syndrome type 2 (LQT2) accounts for ~ 35% of all LQTS cases and is difficult to manage, as beta-blockers frequently…
- Trial name
- MAST2 (NCT04581408)
- Testing
- Lumacaftor / Ivacaftor, Orkambi® Oral Tablet
- Where
- Italy
- Volunteers
- 16 people
- Sponsor
- Istituto Auxologico Italiano
NF1, Neurofibromatosis
Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults
This study, "A Phase II Study of Cabozantinib (XL l84) for Plexiform Neurofibromas in Subjects with Neurofibromatosis Type I in Children and Adults diagnosed with Neurofibromatosis Type 1 (NF1) and have a type of tumor called a…
- Conditions
- NF1, Neurofibromatosis, Plexiform Neurofibromas
- Trial name
- NF105-CABO (NCT02101736)
- Testing
- Cabozantinib
- Where
- 12 sites in United States
- Volunteers
- 45 people
- Sponsor
- University of Alabama at Birmingham
Inherited Retinal Dystrophy Due to RPE65 Mutations, Leber Congenital Amaurosis
Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
The study is a Phase 3, open-label, randomized controlled trial of gene therapy intervention by subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl).
- Trial name
- NCT00999609
- Testing
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- Where
- 2 sites in United States
- Volunteers
- 31 people
- Sponsor
- Spark Therapeutics, Inc.
Heart Failure
Heart Failure: Don't Forget the Role of Amyloidosis
Heart failure is defined as the inability of the heart to provide sufficient output to meet the needs of the body. It can occur in the course of a myocardial infarction, angina pectoris, hypertension, etc.
- Trial name
- TEAM-HF (NCT05501847)
- Testing
- Patient with no ventricular hypertrophy
- Where
- 2 sites in Guadeloupe, Martinique
- Volunteers
- 446 people
- Sponsor
- University Hospital Center of Martinique
Mucositis, Multiple Myeloma and Plasma Cell Neoplasm
Studying Common Genetic Mutations Related to Mucositis in Patients With Multiple Myeloma Receiving High-Dose Melphalan
RATIONALE: Studying blood or mouthwash samples in the laboratory from patients receiving melphalan for cancer may help doctors learn more about changes that occur in DNA, identify biomarkers related to cancer, and help predict…
- Trial name
- NCT00602147
- Testing
- laboratory biomarker analysis
- Where
- 3 sites in United States
- Volunteers
- 95 people
- Sponsor
- Vanderbilt-Ingram Cancer Center
Polycythemia; Familial, Erythrocytosis; Familial
Digoxin for Congenital Erythrocytosis Due to Up-Regulated Hypoxia Sensing
The investigators will study digoxin to inhibit the hypoxic response in congenital erythrocytosis due to germ line mutations that result in up-regulated hypoxia sensing.
- Conditions
- Polycythemia; Familial, Erythrocytosis; Familial, VHL Gene Mutation, HIF-2alpha Erythrocytosis
- Trial name
- NCT03433833
- Testing
- Digoxin
- Sponsor
- University of Illinois Chicago
Skeletal Class III Malocclusion
Figuring Out the Genetic Mutations That Lead to Lower Jaw Advancement More Than the Upper Jaw
Purpose of the Research: To reveal the genetic cause for the occurrence of Class III malocclusion, or what may be described as a reverse bite (underbite). Introduction and Detailed Procedures for the Patient (Work Plan): 1.
- Trial name
- NCT07749638
- Where
- Egypt
- Volunteers
- 93 people
- Sponsor
- Cairo University
Diabetes
Personalised Medicine for Morbid Obesity
The prevalence of morbid obesity (BMI > 40 kg/m2) is increasing rapidly in the UK, but the investigators lack a coherent strategy for detailed assessment and treatment of the individuals affected, who are at high risk of…
- Trial name
- NCT01365416
- Where
- United Kingdom
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Chronic Myelomonocytic Leukemia, Myelodysplastic Syndrome
Azacitidine and Quizartinib for the Treatment of Myelodysplastic Syndrome or Myelodysplastic/Myeloproliferative Neoplasm With FLT3 or CBL Mutations
This phase I/II trial studies the side effects and best dose of quizartinib when given with azacitidine and to see how well they work in treating patients with myelodysplastic syndrome or myelodysplastic/myeloproliferative…
- Conditions
- Chronic Myelomonocytic Leukemia, Myelodysplastic Syndrome, Myeloproliferative Neoplasm, Recurrent Chronic Myelomonocytic Leukemia
- Trial name
- NCT04493138
- Testing
- Azacitidine, Quizartinib
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- M.D. Anderson Cancer Center
Retinitis Pigmentosa
Prospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
- Trial name
- PHENOROD2 (NCT04285398)
- Testing
- Ophthalmic examinations, Mobility Test
- Where
- 2 sites in United States, France
- Volunteers
- 82 people
- Sponsor
- SparingVision
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