Clinical trials: Genetic Mutations
Cystic Fibrosis
Study of N91115 in Patients With Cystic Fibrosis Homozygous F508del-CFTR Mutation
This Phase 1b study in F508del-CFTR homozygous CF patients is being conducted to assess the safety of N91115 as the sole cystic fibrosis transmembrane conductance regulator (CFTR) modulator at doses near the expected therapeutic…
- Trial name
- SNO4 (NCT02275936)
- Testing
- N91115
- Where
- 19 sites in United States
- Volunteers
- 51 people
- Sponsor
- Nivalis Therapeutics, Inc.
Breast Cancer
Study of PIK3CA Mutations and Effectiveness and Tolerability Outcomes of Alpelisib in Real-world
SPEAR is a non-interventional / observational, prospective, multicenter study planned to be conducted across ~ 30 sites in India, among HR-positive and HER2-negative ABC/MBC patients.
- Trial name
- SPEAR (NCT05022342)
- Testing
- alpelisib plus fulvestrant
- Where
- 28 sites in India
- Volunteers
- 595 people
- Sponsor
- Novartis Pharmaceuticals
Lung Cancer, Non-small Cell Lung Cancer
Phase II Trial to Correlate Radiographic Response Induced By Gefitinib With Mutations in the Protein-Tyrosine Kinase Domain of the EGF Receptor Gene
The purpose of this research study is to: see if gefitinib pills can shrink Stage 1 or 2 non-small cell lung cancers before surgery see if your non-small cell lung cancer has a mutation in a certain part of the EGFR gene see if…
- Conditions
- Lung Cancer, Non-small Cell Lung Cancer, Bronchioloalveolar Cancer
- Trial name
- NCT00588445
- Testing
- Gefitinib
- Where
- United States
- Volunteers
- 65 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Stargardt, Stargardt's Disease
An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
This is an Observational Study to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene This is a multicenter study which will enroll approximately 75…
- Conditions
- Stargardt, Stargardt's Disease, Stargardt Disease, STGD1
- Trial name
- POLARIS (NCT06435000)
- Where
- 20 sites in United States, Germany and 1 more
- Volunteers
- 75 people
- Sponsor
- Splice Bio
Cardiomyopathy, Dilated, Bcl-2 Anathogene-3 (BAG3) Dilated Cardiomyopathy (DCM)
A Study About the Natural History in Adults With BAG3 Dilated Cardiomyopathy (a Type of Heart Disease) (BAG3 DCM)
The purpose of this study is to learn about the natural progression of DCM (dilated cardiomyopathy) caused by BAG3 gene mutations. DCM is a condition as the heart muscle is weakened and the heart becomes enlarged.
- Trial name
- NCT05981092
- Where
- 15 sites in United States, Netherlands and 3 more
- Volunteers
- 35 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Papillary Thyroid Carcinoma
BRAF V600E Mutations In Papillary Thyroid Carcinoma
The purpose of this study is to determine whether BRAF V600E mutation in our patients with papillary thyroid cancer has an association with poor prognosis.
- Trial name
- NCT01417442
- Testing
- BRAF V600E POSITIVITY
- Where
- Turkey (Türkiye)
- Volunteers
- 150 people
- Sponsor
- Bezmialem Vakif University
EGFR Tyrosine Kinase Inhibitors Plus Cyclin-dependent Kinase 4/6 Inhibitor
A Study of Almonertinib Combined With Palbociclib in Patients With Advanced Solid Tumors Harboring KRAS Mutations
The main purpose of this study is to evaluate the safety and tolerability of almonertinib combined with palbociclib in patients with advanced solid tumors harboring KRAS gene mutations, and to conduct a preliminary observation of…
- Trial name
- APEAK (NCT06947811)
- Testing
- Almonertinib, Palbociclib
- Where
- China
- Volunteers
- 71 people
- Sponsor
- Sun Yat-sen University
Ovarian Cancer
BMN 673 (Talazoparib), an Oral PARP Inhibitor, in People With Deleterious BRCA1/2 Mutation-Associated Ovarian Cancer Who Have Had Prior PARP Inhibitor Treatment
Background: The new drug BMN 673 (talazoparib) has been shown to fight tumor cells in animals and some people. It is a poly (ADP-ribose) polymerase (PARP) inhibitor.
- Trial name
- NCT02326844
- Testing
- BMN 673 (talazoparib)
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Cancer Institute (NCI)
Metastatic Non Small Cell Lung Cancer
Dacomitinib for Treatment of Patients in India With Metastatic Non Small Cell Lung Cancer With EGFR Activating Mutations
This is a Phase 4, open label, single arm, multi-center, prospective clinical trial of dacomitinib that will be performed in India.
- Trial name
- NCT04511533
- Testing
- Dacomitinib
- Where
- 15 sites in India
- Volunteers
- 101 people
- Sponsor
- Pfizer
Stomach Neoplasms, Stomach Cancer
Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer
Background: Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers.
- Conditions
- Stomach Neoplasms, Stomach Cancer, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS), Hereditary Diffuse Gastric Cancer (HDGC)
- Trial name
- NCT03030404
- Where
- United States
- Volunteers
- 733 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Parkinson Disease, Idiopathic Parkinson Disease
Study to Determine Mutations in the Gaucher Gene in Patients With Idiopathic Parkinson's Disease for Phenotype-genotype Correlation
The genotype-phenotype correlation in patients with Parkinson's disease with specific mutations in the glucocerebrosidase gene (Gaucher gene) is known from own clinical experiences as well as from case reports in the literature.
- Trial name
- PadGau (NCT01272687)
- Where
- 15 sites in Germany, Thailand
- Volunteers
- 1,500 people
- Sponsor
- CENTOGENE GmbH Rostock
Leber Congenital Amaurosis, Leber Congenital Amaurosis (LCA)
Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA-Associated Inherited Retinal Degeneration (LCA-IRD)
This study is an early-stage clinical trial (Phase 1b/2a) testing a gene therapy called OPGx-RDH12 for people with Leber Congenital Amaurosis (LCA) caused by mutations in the RDH12 gene, a rare genetic eye disease that leads to…
- Trial name
- RDH12 (NCT07681778)
- Testing
- OPGx-RDH12
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Opus Genetics, Inc
Aplasia Cutis Congenita
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
- Trial name
- ACC (NCT01630421)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Epidermal Growth Factor Receptor (EGFR) Mutations, Solid Tumors
A Study to Investigate the Absorption, Metabolism and Excretion of [14C]ASP8273 in Subjects With Solid Tumors
This is a study to investigate the absorption, metabolism and excretion of [14C] labeled ASP8273 in subjects with solid tumors harboring EGFR mutations (per local testing). This study consists of two parts (A and B).
- Trial name
- NCT02674555
- Testing
- radio-labeled naquotinib, naquotinib
- Sponsor
- Astellas Pharma Global Development, Inc.
Cystic Fibrosis
A Study Evaluating Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Subjects 6 Through 11 Years of Age With Cystic Fibrosis and F/MF Genotypes
This study will evaluate the efficacy and safety of elexacaftor (ELX) / tezacaftor (TEZ) / ivacaftor (IVA) triple combination (TC) in subjects 6 through 11 years of age with cystic fibrosis (CF) who are heterozygous for F508del…
- Trial name
- NCT04353817
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 34 sites in Australia, Canada and 8 more
- Volunteers
- 121 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
PTC124 for Cystic Fibrosis
In some patients with cystic fibrosis (CF), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the cystic fibrosis transmembrane regulator (CFTR) protein.
- Trial name
- NCT00234663
- Testing
- PTC124
- Where
- 5 sites in United States
- Volunteers
- 24 people
- Sponsor
- PTC Therapeutics
Retinitis Pigmentosa, Eye Diseases
Rate of Progression in EYS Related Retinal Degeneration
The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with EYS mutations in order to accelerate the development of outcome measures…
- Trial name
- Pro-EYS (NCT04127006)
- Where
- 19 sites in United States, Canada and 5 more
- Volunteers
- 103 people
- Sponsor
- Jaeb Center for Health Research
Prostate Cancer
Identification of Prostate Cancer Genes
This study will identify genes that predispose men to prostate cancer and affect the rate and type of disease spread, the aggressiveness of the disease, and the long-term outcome.
- Trial name
- NCT00342784
- Where
- United States
- Volunteers
- 5,118 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Prostate Cancer, Genetic Predisposition to Disease
Prophylactic Prostatectomy for Prostate Cancer (PPPC)
Prostate cancer affects 1-in-8 people assigned male at birth in the UK and kills almost 12,000 annually. Half the cases occur due to genetic factors.
- Conditions
- Prostate Cancer, Genetic Predisposition to Disease, BRCA Mutation
- Trial name
- PPPC (NCT06470685)
- Testing
- Qualitative Research Interviews
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
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