Clinical trials: Genes
GJB2-mediated Hearing Loss, GJB2 Gene Mutation
Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss
Skylark Bio is conducting a study of an investigational new drug called SKY-GJB2 and its delivery device, the SKY-CAT. SKY-GJB2 is a gene therapy that is being developed to treat children who have hearing loss due to changes in…
- Conditions
- GJB2-mediated Hearing Loss, GJB2 Gene Mutation, DFNB1A
- Trial name
- SONIX (NCT07627971)
- Testing
- SKY-GJB2
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Skylark Bio Inc.
Advanced Solid Tumor, Metastatic Solid Tumor
Safety/Efficacy Study of CID-078 in Patients With Advanced Solid Tumor Malignancies
This is a first-in-human, multicenter, open-label, phase 1 study to evaluate safety, tolerability, and efficacy of CID-078, a Cyclin A/B-RxL inhibitor, in patients with advanced solid tumors.
- Conditions
- Advanced Solid Tumor, Metastatic Solid Tumor, Refractory Solid Tumor, Cancer
- Trial name
- NCT06577987
- Testing
- CID-078 Monotherapy
- Where
- 10 sites in United States
- Volunteers
- 220 people
- Sponsor
- Circle Pharma
DNMT3A Gene Mutation
Metformin Inhibits DNMT3A Clonal Hematopoiesis in Acute Leukemia
This is a prospective, single-arm clinical study evaluating the efficacy and safety of metformin in inhibiting DNMT3A R882-driven clonal hematopoiesis (CH) in patients with acute leukemia (AL) who are in remission and under…
- Trial name
- NCT07188740
- Testing
- Metformin
- Where
- China
- Volunteers
- 32 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
A Study of DB-OTO, an Adeno-Associated Virus (AAV) Based Gene Therapy, in Children/Infants, Adolescents and Adults With Hearing Loss Due to Otoferlin Mutations
Regeneron is conducting a study of an investigational new drug called DB-OTO. DB-OTO is a gene therapy that is being developed to treat pediatric and adult participants who have severe-to profound and profound hearing loss due to…
- Trial name
- CHORD (NCT05788536)
- Testing
- DB-OTO
- Where
- 17 sites in United States, Germany and 3 more
- Volunteers
- 36 people
- Sponsor
- Regeneron Pharmaceuticals
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
- Trial name
- NCT01060371
- Testing
- Genetic Testing, Blood Collection, Magnetic Resonance Imaging (MRI) Scan
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Lauren Moore
OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy.
- Trial name
- OPA-LONG (NCT07729982)
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- Ludwig-Maximilians - University of Munich
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
OTOF Gene Mutation, DFNB9
A Phase I/II Clinical Trial With SENS-501 in Children Suffering From Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
This study intends to assess safety, tolerability, and efficacy of SENS-501 in children between the ages of 6-31 months with pre-lingual hearing loss due to a mutation in the Otoferlin gene.
- Conditions
- OTOF Gene Mutation, DFNB9, Congenital Deafness, Hearing Disorders
- Trial name
- AUDIOGENE (NCT06370351)
- Testing
- SENS-501 administration
- Where
- 2 sites in Australia, France
- Volunteers
- 12 people
- Sponsor
- Sensorion
Advanced or Recurrent Solid Tumor Harboring an NTRK Gene Fusion
NTRK Gene Fusion - Positive Advanced or Recurrent Solid Tumors, a Rare Cancer Caused by Specific Changes in the Genes
Researchers want to learn more about the use of larotrectinib as a real-world treatment for tropomyosin receptor kinase fusion cancer, also called TRK fusion cancer.
- Trial name
- NCT04945330
- Testing
- Larotrectinib (Vitrakvi, BAY2757556)
- Where
- Japan
- Volunteers
- 100 people
- Sponsor
- Bayer
Cystic Fibrosis (CF), Pancreatic Insufficiency
Safety of Stopping Pancreatic Enzyme Replacement Therapy in Children With Improved Pancreatic Function After Highly Effective Modulator Therapy
The goal of this clinical trial is to evaluate the safety of stopping pancreatic enzyme replacement therapy (PERT) in children with cystic fibrosis (CF) receiving CFTR modulator therapy (CFTRm) who have regained pancreatic…
- Conditions
- Cystic Fibrosis (CF), Pancreatic Insufficiency, Pancreas Disease, Exocrine Pancreatic Insufficiency
- Trial name
- NCT07632768
- Testing
- Discontinuation of Pancreatic Enzyme Replacement Therapy
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Indiana University
Pancreatic Cancer, Small Bowel Cancer
Expanded Access to Ulixertinib (BVD-523) in Patients With Advanced MAPK Pathway-Altered Malignancies
The objective of this expanded access program is to provide ulixertinib (BVD-523) for compassionate use in advanced cancer patients with MAPK pathway-altered solid tumor(s), including but not limited to KRAS, NRAS, HRAS, BRAF…
- Conditions
- Pancreatic Cancer, Small Bowel Cancer, Colorectal Cancer, Melanoma
- Trial name
- NCT04566393
- Testing
- Ulixertinib (BVD-523)
- Where
- 26 sites in United States
- Sponsor
- xCures
RAI1 Gene 17P11.2 Deletion+Duplication
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Currently, there is no clinically available genetic-based treatment for RAI1 (Retinoic Acid-Induced 1) -related disorders other than symptomatic management and there are no established clinical or molecular biomarkers that could…
- Trial name
- NCT06274164
- Testing
- Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy, Blood draw
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Sensorineural Hearing Loss, Bilateral, AUNB1
Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.
- Conditions
- Sensorineural Hearing Loss, Bilateral, AUNB1, DFNB1A, Congenital Deafness
- Trial name
- Otoconex (NCT05402813)
- Testing
- Pure Tone Audiometry Assessment, Quality of Life Questionnaires
- Where
- France
- Volunteers
- 180 people
- Sponsor
- Sensorion
Adult Cystic Nephroma, Anaplastic Kidney Wilms Tumor
Study of Kidney Tumors in Younger Patients
This research trial studies kidney tumors in younger patients. Collecting and storing samples of tumor tissue, blood, and urine from patients with cancer to study in the laboratory may help doctors learn more about changes that…
- Conditions
- Adult Cystic Nephroma, Anaplastic Kidney Wilms Tumor, Angiolipoma, Cellular Congenital Mesoblastic Nephroma
- Trial name
- NCT00898365
- Testing
- Cytology Specimen Collection Procedure, Laboratory Biomarker Analysis
- Where
- 248 sites in United States, Australia and 5 more
- Volunteers
- 8,000 people
- Sponsor
- Children's Oncology Group
NCOR Gene Mutations, Spironolactone
Spironolactone Improved Children With Gene Mutations Related to NCOR
MECP2, a key transcriptional regulator, has been shown to interact with the NCOR1/2 complex to modulate gene expression. Specifically, MECP2 recruits the NCOR complex to specific genomic loci, facilitating histone deacetylation…
- Conditions
- NCOR Gene Mutations, Spironolactone, ASD
- Trial name
- NCT06678685
- Testing
- .spironolactone
- Where
- China
- Volunteers
- 2 people
- Sponsor
- Qilu Hospital of Shandong University
PTEN Gene Mutation
Cancer Risk Assessment in Patients With a Constitutional Alteration of the PTEN Gene
This is a multicentric, observational, retrospective and prospective study, aiming to estimate the risk of cancer occurrence in subjects carrying a PTEN mutation, based on the constitution of a national cohort.
- Trial name
- COCO (NCT05630105)
- Where
- 45 sites in France
- Volunteers
- 430 people
- Sponsor
- Institut Bergonié
FLT3 Gene Mutation, AML
The Efficacy of Triple Regimen in Newly Diagnosed AML Patients With FLT3 Mutation
The FMS tyrosine kinase 3 (FLT3) gene mutation occurs in 30% of newly diagnosed AML patients, leading to a higher relapse rate and mortality rate.
- Trial name
- FLT3AML-2024 (NCT06561880)
- Testing
- Venetoclax, Cytarabine, Gilteritinib
- Where
- China
- Volunteers
- 66 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Slow-Flow Vascular Malformation, Fast-Flow Vascular Malformation
A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations
Recent studies have demonstrated that growth of vascular malformations can be driven by genetic variants in one of 2 signalling pathways.
- Conditions
- Slow-Flow Vascular Malformation, Fast-Flow Vascular Malformation, Vascular Malformations, Venous Malformation
- Trial name
- TARGET-VM (NCT05983159)
- Testing
- Alpelisib, Mirdametinib
- Where
- 2 sites in Australia
- Volunteers
- 50 people
- Sponsor
- Murdoch Childrens Research Institute
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
Menin Inhibitors, Acute Leukemia
A Real-world Study on the Efficacy and Safety of Menin Inhibitors as Maintenance After Allo-HSCT
The objective of this observational study is to evaluate the efficacy and safety of menin inhibitor maintenance therapy in patients with acute leukemia who have undergone allogeneic hematopoietic stem cell transplantation…
- Conditions
- Menin Inhibitors, Acute Leukemia, Post Hematopoietic Stem Cell Transplantation, Maintenance Therapy
- Trial name
- NCT07559695
- Where
- China
- Volunteers
- 20 people
- Sponsor
- The First Affiliated Hospital of Soochow University