Clinical trials: Genes
Gaucher Disease, Parkinson Disease
World Data on Ambroxol for Patients With GD and GBA Related PD
Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was found to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase, albeit in a…
- Conditions
- Gaucher Disease, Parkinson Disease, GBA Gene Mutation
- Trial name
- NCT04388969
- Where
- 3 sites in Israel
- Volunteers
- 300 people
- Sponsor
- Shaare Zedek Medical Center
Treatment of Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
A Clinical Trial of EHT102 Injection in Pediatric Patients With Biallelic hOTOF Mutations
This study is a multicenter, single-arm, open-label Phase I/II clinical trial, which is designed to evaluate the safety, tolerability and efficacy of EHT102 injection in treating congenital hearing loss secondary to biallelic…
- Trial name
- NCT07288580
- Testing
- EHT102 Injection
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Shanghai Euhearing Therapeutics Co., Ltd
Hematologic Malignancy, Acute Leukemia
MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies
This is a phase II, open-label, prospective study of T cell receptor alpha/beta depletion (TCR α/β TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies.
- Conditions
- Hematologic Malignancy, Acute Leukemia, Remission, Acute Myeloid Leukemia
- Trial name
- NCT05735717
- Testing
- Fludarabine, Busulfan, Melphalan
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Breast Cancer, Ductal Carcinoma
Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
The goal of this research study is to evaluate the efficacy and safety of low-dose exemestane versus low-dose tamoxifen in post-menopausal women at high risk for breast cancer.
- Conditions
- Breast Cancer, Ductal Carcinoma, Estrogen-receptor-positive Breast Cancer, Atypical Lobular Hyperplasia
- Trial name
- BabyTEARS (NCT07499999)
- Testing
- Exemestane, Tamoxifen
- Where
- 2 sites in United States
- Volunteers
- 140 people
- Sponsor
- Dana-Farber Cancer Institute
Li-Fraumeni Syndrome, TP53 Gene Mutation
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g.
- Conditions
- Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis
- Trial name
- LiFT_UP (NCT04541654)
- Testing
- Data and Specimen Collection
- Where
- 3 sites in United States
- Volunteers
- 1,500 people
- Sponsor
- Dana-Farber Cancer Institute
Glioblastoma, IDH1 Gene Mutation
BGB-290 and Temozolomide in Treating Isocitrate Dehydrogenase (IDH)1/2-Mutant Grade I-IV Gliomas
This phase I trial studies the side effects and best dose of BGB-290 and temozolomide in treating adolescents and young adults with IDH1/2-mutant grade I-IV glioma that is newly diagnosed or has come back.
- Conditions
- Glioblastoma, IDH1 Gene Mutation, IDH2 Gene Mutation, Low Grade Glioma
- Trial name
- PNOC017 (NCT03749187)
- Testing
- PARP Inhibitor BGB-290, Temozolomide (TMZ)
- Where
- 11 sites in United States
- Volunteers
- 78 people
- Sponsor
- University of California, San Francisco
Idiopathic Pulmonary Arterial Hypertension, Heritable Pulmonary Arterial Hypertension
Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals
Pulmonary arterial hypertension (PAH) is a severe disease with a delayed diagnosis and markedly elevated mortality. High-risk populations, such as those with known genetic defects, provide a unique opportunity to determine the…
- Conditions
- Idiopathic Pulmonary Arterial Hypertension, Heritable Pulmonary Arterial Hypertension, Unaffected Mutation Carriers: Healthy Participants With a Known BMPR2 Gene Mutation and Normal Pulmonary Pressure and RV Function on Echo, Healthy Individuals With no Cardiopulmonary Disease
- Trial name
- RARE-PAH (NCT05584722)
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Vanderbilt University Medical Center
ALL, Adult, AML, Adult
A Study of BN104 in the Treatment of Acute Leukemia
The Phase I/II trial is to learn the safety, pharmacokinetics, and preliminary efficacy of BN104 taken once daily or twice daily in patients with acute lymphocytic leukemia or acute myeloblastic leukemia.
- Conditions
- ALL, Adult, AML, Adult, Acute Leukaemia, KMT2A Rearrangement
- Trial name
- NCT06052813
- Testing
- BN104 monotherapy, BN104 monotherapy - rp2d
- Where
- China
- Volunteers
- 66 people
- Sponsor
- Institut de Recherches Internationales Servier (I.R.I.S.)
Hereditary Pancreatitis, PRSS1 Gene Mutation
French National Cohort of Patients With PRSS1 Mutations
The diagnosis of hereditary pancreatitis (PH) is based on a genetic criterion - detection of a mutation in the PRSS1 gene or on a genealogical criterion - the presence of chronic pancreatitis in at least 2 first-degree relatives…
- Trial name
- PARADISIO 1 (NCT07413029)
- Testing
- collecting their health data from their medical file and completing questionnaires.
- Where
- France
- Volunteers
- 800 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Chronic Migraine Headache, Radiofrequency Ablation
The Effect of Interventional Procedures on Serum CGRP and PACAP-38 Levels in Chronic Migraine
The study included 100 patients diagnosed with chronic migraine (CM) who received a diagnosis from the headache clinics of the Neurology Department of Adnan Menderes University Hospitals between May 2025 and May 2026.
- Conditions
- Chronic Migraine Headache, Radiofrequency Ablation, Greater Occipital Nerve Block, Calcitonin Gene-related Peptide
- Trial name
- NCT07395908
- Testing
- Greater occipital nerve Pulse radiofrequency, Greater occipital nerve block
- Where
- Turkey (Türkiye)
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Aydin Adnan Menderes University
Neonatal Seizure, Hypoxic-Ischemic Encephalopathy
Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy
The NSR-GENE study is a longitudinal cohort study of approximately 300 parent-child trios from the Neonatal Seizure Registry and participating site outpatient clinics that aims to evaluate whether and how genes alter the risk of…
- Conditions
- Neonatal Seizure, Hypoxic-Ischemic Encephalopathy, Stroke, Intracranial Hemorrhage
- Trial name
- NSR-GENE (NCT05361070)
- Where
- 8 sites in United States
- Volunteers
- 300 people
- Sponsor
- University of California, San Francisco
Breast Cancer - ER+, HER2-, PIK3CA Gene Mutation
PI3K Pathway Activation Markers in ER-Positive, HER2-Negative Breast Cancer: A Clinicopathologic Study
The goal of this observational study is to examine whether markers of PI3K pathway activation are associated with endocrine therapy response and clinicopathologic features in estrogen receptor-positive, HER2-negative breast…
- Trial name
- p-AKT p-S6 (NCT07387861)
- Testing
- Not applicable- observational study
- Volunteers
- 70 people
- Sponsor
- Assiut University
ISOLATION OF KLEB. by Culture on macConkey Agar, Antibiotic Sensitivity Testing of Different Antibiotics According to Clsi 25
Effect of Ceftazidime-Avibactam on Carbapenemase-Producing Klebsiella Pneumoniae
Specimen Collection : Clinical specimens included blood, urine, bronchoalveolar lavage fluid, wound, peritoneal fluid, and tracheal aspirate obtained from patients with suspected bacterial infections collected in dry sterile…
- Conditions
- ISOLATION OF KLEB. by Culture on macConkey Agar, Antibiotic Sensitivity Testing of Different Antibiotics According to Clsi 25, Effect of Ceftazidime-Avibactam on Carbapenemase-Producing Klebsiella Pneumoniae, Detection of Resistance Gene in Isolates Using Conventional Pcr
- Trial name
- NCT07369518
- Testing
- . - Genotypic detection of carbapenemase genes by conventional PCR.
- Where
- Egypt
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Sohag University
SMA - Spinal Muscular Atrophy, Gene Therapy
Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
Phase 3 pivotal US trial studying open-label intravenous administration of onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) Type 1 participants.
- Trial name
- STR1VE (NCT03306277)
- Testing
- Onasemnogene Abeparvovec-xioi
- Where
- 16 sites in United States
- Volunteers
- 22 people
- Sponsor
- Novartis Gene Therapies
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
Gene Expression Profiling, Orthodentic Appliances
Genes Associated With Bone Metabolism in the Saliva During Orthodontic Treatment
Understanding the biological events during fixed orthodontic treatment is essential for optimizing treatment strategies, predicting patient response, and minimizing adverse effects.
- Trial name
- NCT07303647
- Testing
- PCR
- Where
- Iraq
- Volunteers
- 24 people
- Sponsor
- Kurdistan Higher Council of Medical Specialties
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Severe Combined Immunodeficiency, X Linked, Gene Therapy
Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning
This is a phase I/II open label multi-center study in which patients will receive low dose targeted busulfan followed by infusion of autologous CD34+ selected bone marrow or mobilized peripheral blood cells transduced with the…
- Trial name
- NCT03311503
- Testing
- autologous CD34+ cell transduced with G2SCID vector
- Where
- 4 sites in United States
- Volunteers
- 12 people
- Sponsor
- David Williams
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
Gene Therapy, Hemophilia B
Needs Assessment of Knowledge, Beliefs, and Attitudes of Patients With Hemophilia B About Gene Therapy
Gene therapy is a paradigm-shifting treatment for hemophilia B patients, particularly in resource-limited countries where factor availability remains low.
- Trial name
- NCT05044845
- Testing
- Interview
- Where
- 6 sites in United States, Nepal and 4 more
- Volunteers
- 150 people
- Sponsor
- St. Jude Children's Research Hospital