Clinical trials: Gene Mutations
Parkinson Disease
Exploring Brain Molecular Imaging and Blood Biomarkers in Subjects With Glucocerebrosidase Mutations: Toward a Precision Medicine Approach to Characterize Parkinson's Disease Clinical Trajectories
Glucocerebrosidase (GBA) mutations are the most common risk factor for Parkinson's Disease (PD). GBA-related PD(GBA-PD) exhibits a more malignant phenotype as compared to no-carriers.
- Trial name
- NCT06167603
- Testing
- FDG-PET, Blood test and clinical examination.
- Where
- Italy
- Volunteers
- 140 people
- Sponsor
- IRCCS San Raffaele
Amyotrophic Lateral Sclerosis
GM604 Phase 2A Randomized Double-blind Placebo Controlled Pilot Trial in Amyotrophic Lateral Disease (ALS)
GM604 is an endogenous human embryonic stage neural regulatory and signaling peptide that controls the development, monitoring and correction of the human nervous system.
- Trial name
- GALS (NCT01854294)
- Testing
- GM604
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Genervon Biopharmaceuticals, LLC
Prostate Cancer, Metastatic Prostate Adenocarcinoma
Tumor Molecular Profiling in Patients With Prostate Cancer
The aim of the study was to evaluate the prevalence, the prognostic and predictive value of gene alterations in unselected patients with prostate cancer.
- Trial name
- NCT05573789
- Testing
- Tumor molecular profiling
- Where
- Greece
- Volunteers
- 220 people
- Sponsor
- Hellenic Cooperative Oncology Group
Advanced Solid Tumor, Non-Small Cell Lung Cancer
A First-in-Human Trial of BLU-924 (SAR449336) in Advanced Solid Tumors Harboring KRAS Mutations
A first in human study to evaluate the safety, tolerability, pharmacokinetics, and antitumor activity of BLU-924 / SAR449336, a pan-KRAS inhibitor, in participants with advanced Pancreatic Cancer, Non-Small Cell Lung Cancer, or…
- Conditions
- Advanced Solid Tumor, Non-Small Cell Lung Cancer, Colorectal Neoplasms, Pancreatic Ductal Adenocarcinoma
- Trial name
- NCT07629960
- Testing
- BLU-924
- Where
- 16 sites in United States, Spain
- Volunteers
- 265 people
- Sponsor
- Blueprint Medicines Corporation
Obesity
GLP-1 Response and Effect in Individuals With Obesity Causing Genetic Mutations
The obesity epidemic is attributable to dietary and behavioral trends acting on a person's genetic makeup to determine body mass and susceptibility to obesity-related diseases.
- Trial name
- NCT02082496
- Testing
- Liraglutide
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Sickle Cell Disease (SCD)
Study of Two Doses of Crizanlizumab Versus Placebo in Adolescent and Adult Sickle Cell Disease Patients
The purpose of this study is to compare the efficacy and safety of 2 doses of crizanlizumab (5.0 mg/kg and 7.5 mg/kg) versus placebo in adolescent and adult sickle cell disease (SCD) patients with history of vaso-occlusive crisis…
- Trial name
- STAND (NCT03814746)
- Testing
- Crizanlizumab (SEG101)
- Where
- 58 sites in United States, Belgium and 19 more
- Volunteers
- 253 people
- Sponsor
- Novartis Pharmaceuticals
Advanced Solid Tumors Harboring RAS Mutations or Amplifications
A Phase I Study of HRS-7172 in Participants With Advanced Solid Tumors Harboring RAS Mutations or Amplifications
This is a phase I study of HRS-7172 to evaluate safety, tolerability and pharmacokinetics in participants with advanced solid tumors harboring RAS mutations or amplifications.
- Trial name
- NCT07142980
- Testing
- HRS-7172 Tablets
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Jiangsu HengRui Medicine Co., Ltd.
Heterozygous Carriers of Gitelman Syndrome
Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter
Gitelman syndrome is a salt wasting tubulopathy caused by mutations in the SLC12A3 gene coding for the thiazide sensitive sodium chloride cotransporter.
- Trial name
- HEPHYGI (NCT02035046)
- Testing
- Samplings of blood, Sampling of urine, Measure of the blood pressure
- Where
- 5 sites in France
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Primary Ciliary Dyskinesia
A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
This is the second in-human study with RCT1100 and is designed to provide safety, tolerability and preliminary efficacy data for future clinical studies.
- Trial name
- NCT06600425
- Testing
- RCT1100
- Where
- 2 sites in United Kingdom
- Volunteers
- 7 people
- Sponsor
- ReCode Therapeutics
Glioma
Trial of IDH305 in IDH1 Mutant Grade II or III Glioma
The purpose of this study is to found out if the drug IDH305 is safe and effective in subjects with IDH1 mutant grade II or III glioma that has progressed after observation or radiation therapy.
- Trial name
- NCT02977689
- Testing
- IDH305
- Where
- United States
- Sponsor
- NYU Langone Health
Solid Tumors
JSI-1187-01 Monotherapy and in Combination With Dabrafenib for Advanced Solid Tumors With MAPK Pathway Mutations
This is a Phase 1 study of JSI-1187 as monotherapy and in combination with dabrafenib for the treatment of advanced solid tumors with MAPK pathway mutations, including mutations that cause MAPK pathway hyperactivation.
- Trial name
- NCT04418167
- Testing
- JSI-1187, Dabrafenib
- Where
- 7 sites in United States
- Volunteers
- 71 people
- Sponsor
- JS InnoPharm, LLC
Retinitis Pigmentosa (RP)
Retrospective 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
- PHENOROD1 (NCT03975543)
- Where
- France
- Volunteers
- 113 people
- Sponsor
- SparingVision
Non-small Cell Lung Cancer With EGFR-Activating Mutations
ARCHER1050: A Study of Dacomitinib vs. Gefitinib in 1st-Line Treatment Of Advanced NSCLC.
This is a multinational, multicenter, randomized, open-label, Phase 3 study comparing the efficacy and safety of treatment with dacomitinib (PF-00299804) to treatment with gefitinib in patients with locally advanced or metastatic…
- Trial name
- NCT01774721
- Testing
- Dacomitinib (PF-00299804), Gefitinib
- Where
- 52 sites in China, Hong Kong and 5 more
- Volunteers
- 452 people
- Sponsor
- Pfizer
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing Sunitinib as Potentially Targeted Treatment in Cancers With cKIT Genetic Changes (MATCH - Subprotocol V)
This phase II MATCH treatment trial tests how well sunitinib in treating patients with cancer that has certain genetic changes. Sunitinib is in a class of medications called kinase inhibitors.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm
- Trial name
- NCT06390826
- Testing
- Biopsy Procedure, Biospecimen Collection, Computed Tomography
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- National Cancer Institute (NCI)
Leber's Hereditary Optic Neuropathy (LHON)
Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy
The objective of this clinical study is to select the optimal dose and evaluate the safety and efficacy of NR082 in treatment of LHON caused by mitochondrial ND4 gene mutation.
- Trial name
- GOLD (NCT04912843)
- Testing
- NR082 injection
- Where
- China
- Volunteers
- 102 people
- Sponsor
- Wuhan Neurophth Biotechnology Limited Company
Leber Congenital Amaurosis 10, Blindness
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A>G…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders
- Trial name
- HYPERION (NCT06891443)
- Testing
- sepofarsen
- Where
- 18 sites in United States, Australia and 8 more
- Volunteers
- 32 people
- Sponsor
- Laboratoires Thea
Central Nervous System Neoplasms, Pediatric Cancer
Pediatric Prospective Personalized Immune and Target Identification Trial
PPROSPERITIT is a prospective clinical study assessing the use of comprehensive molecular profiling to define the best matching targeted and immune treatment for relapsed, refractory or very high risk pediatric CNS tumors.
- Conditions
- Central Nervous System Neoplasms, Pediatric Cancer, GEN1 Gene Mutation, Tumor, Brain
- Trial name
- PPROSPERITIT (NCT04859543)
- Testing
- FoundationOneHeme
- Where
- 3 sites in Austria, Czechia
- Volunteers
- 80 people
- Sponsor
- Masaryk University
NSCLC
Afatinib in NSCLC With HER2 Mutation
The purpose of this study is to investigate the control of disease in pretreated patients with advanced non small cell lung cancer (NSCLC) harbouring HER2 exon 20 mutations as well as the safety and tolerability (how severe the…
- Trial name
- NICHE (NCT02369484)
- Testing
- Afatinib
- Where
- 5 sites in Germany, Netherlands and 2 more
- Volunteers
- 13 people
- Sponsor
- ETOP IBCSG Partners Foundation
Carcinoma, Pancreatic Ductal, Colorectal Neoplasms
A Study to Learn About the Study Medicine PF-07985045 When Given Alone or With Other Anti-cancer Therapies in People With Advanced Solid Tumors That Have a Change in a Gene.
The purpose of this study is to learn about the safety and effects of the study medicine when given alone or together with other anti-cancer therapies. Anti-cancer therapy is a type of treatment to stop the growth of cancer.
- Conditions
- Carcinoma, Pancreatic Ductal, Colorectal Neoplasms, Carcinoma, Non-Small-Cell Lung
- Trial name
- NCT06704724
- Testing
- PF-07985045, Gemcitabine, Nab-paclitaxel
- Where
- 13 sites in United States, Puerto Rico
- Volunteers
- 30 people
- Sponsor
- Pfizer
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
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