Clinical trials: Mutations
TECPR2
TECPR2 Observational Study
The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.
- Trial name
- NCT04485221
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Florida
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
Intellectual Disability
Various Type of Genetic Events in Patients With Intellectual Disability
Currently, for a patient with intellectual disability without a recognizable syndrome (most cases), the way to diagnosis is often long, tedious and expensive because different approaches are used one after the other to identify…
- Trial name
- CNV-Seq (NCT02881333)
- Testing
- Blood samples
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France
Leukocyte Adhesion Defect - Type I
A Clinical Trial to Evaluate the Safety and Efficacy of RP-L201 in Subjects With Leukocyte Adhesion Deficiency-I
The primary purpose of the Phase I portion of the study is to assess the therapeutic safety and preliminary efficacy of a hematopoietic cell-based gene therapy consisting of autologous CD34+ enriched cells transduced with the…
- Trial name
- NCT03812263
- Testing
- RP-L201
- Where
- 3 sites in United States, Spain and 1 more
- Volunteers
- 9 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
Cystic Fibrosis
Study of Ivacaftor in Subjects With Cystic Fibrosis (CF) Who Have the R117H-CF Transmembrane Conductance Regulator (CFTR) Mutation (KONDUCT)
The purpose of this study is to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis (CF) who have the R117H-CFTR mutation.
- Trial name
- KONDUCT (NCT01614457)
- Testing
- Ivacaftor
- Where
- 31 sites in United States, United Kingdom
- Volunteers
- 70 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cherubism
Genetic and Functional Analysis of Cherubism
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. Together with the investigators collaborators the investigators also study blood samples and tissue samples from…
- Trial name
- CBM (NCT01630447)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Non Squamous Non Small Cell Lung Cancer, EGFR Positive Non-small Cell Lung Cancer
Neoadjuvant Toripalimab for Non-squamous NSCLC With EGFR Mutation
This study was designed to investigate the efficacy and safety of neoadjuvant Toripalimab (anti-PD1) plus chemotherapy for patients with resectable II-IIIB non-squamous NSCLC harboring EGFR mutation, and to explore the potential…
- Trial name
- NCT05962021
- Testing
- Toripalimab plus Chemotherapy
- Volunteers
- 126 people
- Sponsor
- Peking University People's Hospital
Ventricular Tachycardia
Calmodulin Gene Mutations in Patients With Ventricular Arrhythmia of Unknown Origin - A Screening Study
The aim of this study is to screen a well characterized patient population with ventricular tachycardia of unknown origin and treated with an implantable cardioverter-defibrillator (ICD) for mutations in the calmodulin genes.
- Trial name
- NCT01947543
- Where
- Sweden
- Volunteers
- healthy volunteers welcome
- Sponsor
- Region Örebro County
Cystic Fibrosis
A Phase 3 Study of Tezacaftor (VX-661) in Combination With Ivacaftor (VX-770) in Subjects Aged 12 Years and Older With Cystic Fibrosis (CF), Who Have One F508del-CFTR Mutation and a Second Mutation That Has Been Demonstrated to be Clinically Responsive to Ivacaftor
This is a Phase 3, randomized, double-blind, ivacaftor-controlled, parallel-group, multicenter study of tezacaftor in combination with ivacaftor in subjects aged 12 years and older with CF who are heterozygous for the…
- Trial name
- NCT02412111
- Testing
- Ivacaftor, Tezacaftor/Ivacaftor
- Where
- 68 sites in United States, Australia and 8 more
- Volunteers
- 156 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Myelodysplastic Syndrome
Prognostic Molecular Markers in Patients With Myelodysplastic Syndrome
In the era of hypomethylating agent in MDS treatment, the investigators aimed to investigate the prognostic impact of mutations in spliceosome machinery genes (SRSF2, U2AF1, and ZRSR2) on the outcomes of 1st line decitabine…
- Trial name
- NCT02060409
- Testing
- spliceosome
- Where
- South Korea
- Volunteers
- 58 people
- Sponsor
- Samsung Medical Center
Neuroaxonal Dystrophy, Atypical
Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations
Mutations in the PLA2G6 gene are well known in the classical phenotype called infantile neuro-axonal dystrophy (INAD), a severe neurodegenerative disease starting in infancy with homogeneous clinical, radiological…
- Trial name
- ATYPICPLA2G6 (NCT05440994)
- Where
- 7 sites in France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Clermont-Ferrand
Inflammatory Disease, Genetic Disease
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
- Conditions
- Inflammatory Disease, Genetic Disease, Somatic Mutation, Molecular Sequence Variation
- Trial name
- SAIDiag (NCT05364294)
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Neurodevelopmental Disorder With or Without Variable Brain Abnormalities
Personalized Antisense Oligonucleotide for a Single Participant With MAPK8IP3 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous…
- Trial name
- NCT07197294
- Testing
- nL-MAPK8-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
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
NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations
Study to Evaluate the Efficacy, Safety and Tolerability of MAS825 in Patients With Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 Mutations
This study is a Phase 2 trial designed to evaluate the clinical efficacy, safety, and tolerability of MAS825 in patients with NLRC4-GOF, XIAP deficiency, or CDC42 mutations.
- Trial name
- MASter-1 (NCT04641442)
- Testing
- MAS825
- Where
- 12 sites in United States, Czechia and 5 more
- Volunteers
- 17 people
- Sponsor
- Novartis Pharmaceuticals
Hearing Loss
Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
Disequilibrium between acid and base in the inner ear was suggested to be an important factor leading to hearing impairment associated with SLC26A4 mutations.
- Trial name
- NCT00789061
- Testing
- Proton pump inhibitor
- Where
- Taiwan
- Volunteers
- 120 people
- Sponsor
- National Taiwan University Hospital
Optic, Atrophy, Hereditary, Leber
Efficacy Study of GS010 for Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the ND4 Mutation (REVERSE)
The goal of this clinical trial is to assess the effectiveness of GS010, a gene therapy, in improving the visual outcome in participants with Leber Hereditary Optic Neuropathy (LHON) due to the G11778A ND4 mitochondrial mutation…
- Trial name
- REVERSE (NCT02652780)
- Testing
- GS010
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 37 people
- Sponsor
- GenSight Biologics
Inherited Retinal Dystrophy Due to RPE65 Mutations
Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)
Multi-site, non-randomized, observational study, for up to 15 years after subretinal AAV2-hRPE65v2 administration for each subject.
- Trial name
- NCT03602820
- Testing
- AAV2-hRPE65v2
- Volunteers
- 41 people
- Sponsor
- Genentech, Inc.
Malignant Melanoma
Comparison of In-House Methods and Cobas BRAF V600 Mutation Assay in Melanoma Tumor Samples
This non-interventional study will compare the Cobas BRAF V600 mutation assay with in-house methods used in molecular laboratories for the assessment of the BRAF mutation status in melanoma tumor samples.
- Trial name
- NCT01744860
- Where
- 12 sites in France
- Volunteers
- 420 people
- Sponsor
- Hoffmann-La Roche