Clinical trials: Mutation
Chronic Pancreatitis, Genetic Mutation
An Observational Study on the Natural Course of Chronic Pancreatitis
To explore the impact on genetic and environmental factors for clinical manifestation, and the progression of chronic pancreatitis, including development of pancreatic insufficiency and other complications.
- Conditions
- Chronic Pancreatitis, Genetic Mutation, Smoking, Tobacco, Drinking, Alcohol
- Trial name
- NCT04574297
- Testing
- smoking and alcohol assumption, genetic sequencing
- Volunteers
- 798 people
- Sponsor
- Changhai Hospital
Mitochondrial Diseases
Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
To show that oral CoQ10 is a safe and effective treatment for children with inborn errors of mitochondrial energy metabolism due to defects in specific respiratory chain (RC) complexes or mitochondrial DNA (mtDNA) mutations, and…
- Trial name
- NCT00432744
- Testing
- CoenzymeQ10
- Where
- 3 sites in United States, Canada
- Volunteers
- 24 people
- Sponsor
- University of Florida
Cystic Fibrosis
Does a Nasal Instillation of Miglustat Normalize the Nasal Potential Difference in Cystic Fibrosis Patients ?
The purpose of this study is to investigate within a short delay the effect of nasal instillation of Miglustat on nasal potential difference in cystic fibrosis patients homozygous for the F508del mutation.
- Trial name
- NCT00945347
- Testing
- Miglustat
- Where
- Belgium
- Volunteers
- 10 people
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Primary Ciliary Dyskinesia
Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects.
- Trial name
- NCT04901715
- Testing
- Albuterol, Technetium99m - Sulfur Colloid (Tc99m-SC)
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Diffuse Astrocytoma, Anaplastic Astrocytoma
Study of Efficacy and Safety of Dabrafenib in Combination With Trametinib in Pediatric Patients With BRAF V600 Mutation Positive LGG or Relapsed or Refractory HGG Tumors
The purpose of this study was to investigate the activity of dabrafenib in combination with trametinib in children and adolescent patients with BRAF V600 mutation positive low grade glioma (LGG) or relapsed or refractory high…
- Conditions
- Diffuse Astrocytoma, Anaplastic Astrocytoma, Astrocytoma, Oligodendroglioma, Childhood
- Trial name
- NCT02684058
- Testing
- Dabrafenib, trametinib, Carboplatin
- Where
- 57 sites in United States, Argentina and 18 more
- Volunteers
- 151 people
- Sponsor
- Novartis Pharmaceuticals
Usher Syndrome
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500.
- Trial name
- MYO7A (NCT07278843)
- Testing
- Vision tests, Retinal imaging, Questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
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
Pheochromocytoma/Paraganglioma, Pancreatic Neuroendocrine Tumor
Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)
This is a study to evaluate the efficacy and safety of belzutifan monotherapy in participants with advanced pheochromocytoma/paraganglioma (PPGL), pancreatic neuroendocrine tumor (pNET), von Hippel-Lindau (VHL) disease-associated…
- Conditions
- Pheochromocytoma/Paraganglioma, Pancreatic Neuroendocrine Tumor, Von Hippel-Lindau Disease, Advanced Gastrointestinal Stromal Tumor
- Trial name
- NCT04924075
- Testing
- Belzutifan
- Where
- 84 sites in United States, Australia and 20 more
- Volunteers
- 355 people
- Sponsor
- Merck Sharp & Dohme LLC
Low-grade Glioma, Pediatric Low-grade Gliomas
FCN-159 Monotherapy Versus Chemotherapy by Investigator's Choice in Pediatric Low-grade Glioma Patients With BRAF Alteration
An open-label, randomized, multi-center phase III clinical study: Aim to evaluate the efficacy and safety of FCN-159 monotherapy versus the treatment by investigator's choice in patients with pediatric low-grade glioma harboring…
- Conditions
- Low-grade Glioma, Pediatric Low-grade Gliomas, pLGG With BRAF Alteration
- Trial name
- NCT07004075
- Testing
- Luvometinib, Chemotherapeutic Agent COG-V/C Carboplatin + Vindesine, Carboplatin, Temozolomide
- Where
- China
- Volunteers
- 102 people
- Sponsor
- Shanghai Fosun Pharmaceutical Industrial Development Co. Ltd.
Lymphoma, Follicular
A Study of Tazemetostat on Safety in Participants With Relapsed or Refractory Follicular Lymphoma With Enhancer of Zeste Homolog 2 (EZH2) Gene Mutation in Japan
The primary purpose of the study is to investigate the safety of tazemetostat in participants with relapsed or refractory follicular lymphoma with EZH2 gene mutation under daily clinical practice.
- Trial name
- NCT05228158
- Testing
- Tazemetostat
- Where
- 135 sites in Japan
- Volunteers
- 145 people
- Sponsor
- Eisai Co., Ltd.
Advanced Solid Tumor, CNS Tumor
Study With Infigratinib in Subjects With Advanced Solid and CNS Tumors or Recurrent or Progressive Low-Grade Glioma With Selected FGFR1-3 Alterations
The phase 1b study is aimed at determining the pediatric recommended phase 2 dose (RP2D) of Infigratinib. The phase 2 study will evaluate efficacy and safety of infigratinib.
- Conditions
- Advanced Solid Tumor, CNS Tumor, Recurrent WHO Grade II Glioma
- Trial name
- NEWEL (NCT05222165)
- Testing
- Infigratinib
- Where
- 10 sites in United States, Canada and 1 more
- Sponsor
- Helsinn Healthcare SA
Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA)
Personalized Antisense Oligonucleotide for A Single Participant With UBTF Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA) due to a heterozygous missense…
- Trial name
- NCT07588581
- Testing
- nL-UBTF-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
ALL, Childhood
Detection of IKZF1 Deletion Mutation in Patients With Acute Lymphoblastic Leukemia and Its Impact in Therapy
1. To detect IKZF-1 deletion mutations in patients with ALL. 2. To study the impact of IKZF-1 deletion mutation on therapy of ALL. 3. To study the correlation between IKZF-1 deletion mutations and BCR-ABL.
- Trial name
- NCT03889951
- Volunteers
- 50 people
- Sponsor
- Assiut University
Acute Myeloid Leukemia (AML)
Digital PCR of CHIP and MR for MRD Monitoring After Allo-HSCT in AML
This prospective observational study aims to evaluate the clinical significance of measurable residual disease (MRD) monitoring using digital PCR (dPCR) in patients with acute myeloid leukemia (AML) following allogeneic…
- Trial name
- NCT07500441
- Testing
- Individualized Digital PCR (dPCR) monitoring
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Peking University People's Hospital
Cystic Fibrosis
Correction of Nonsense Mutations in Cystic Fibrosis
The presence of a nonsense mutation leads to the rapid degradation of the carrier mRNA mutation by a mechanism called NMD (nonsense-mediated mRNA decay) [6, 13].
- Trial name
- NCT03670472
- Testing
- smear of nasal fossae
- Where
- 8 sites in France
- Volunteers
- 85 people
- Sponsor
- University Hospital, Lille
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
Pancreas Adenocarcinoma
Verification of Predictive Biomarkers for Pancreatic Cancer Treatment Using Multicenter Liquid Biopsy
This study is for verification of predictive biomarkers for pancreatic cancer treatment using multi-center liquid biopsy.
- Trial name
- NCT04241367
- Where
- South Korea
- Volunteers
- 420 people
- Sponsor
- National Cancer Center, Korea
Aicardi Syndrome, Brain Disorders
Study of Selected X-Linked Disorders: Aicardi Syndrome
Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome.
- Trial name
- NCT00697411
- Testing
- Syndrome cause identification
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Baylor College of Medicine
Bohring-Opitz Syndrome, ASXL1 Gene Mutation
ASXL-Related Disorders Natural History Study
A registry focused on the natural history, management and treatment of patients with Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome (ASXL3).
- Conditions
- Bohring-Opitz Syndrome, ASXL1 Gene Mutation, Shashi-Pena Syndrome, ASXL2 Gene Mutation
- Trial name
- NCT03303716
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- University of California, Los Angeles
Duchenne Muscular Dystrophy
Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy
In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein.
- Trial name
- NCT00264888
- Testing
- PTC124
- Where
- 3 sites in United States
- Volunteers
- 38 people
- Sponsor
- PTC Therapeutics