Clinical trials: Mutation
X-Linked Hypophosphatemia
Registry for Patients With X-Linked Hypophosphatemia
This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH).
- Trial name
- NCT03193476
- Where
- 118 sites in Belgium, Bulgaria and 18 more
- Volunteers
- 1,489 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Menin Inhibitors, Post Hematopoietic Stem Cell Transplantation
Phase 2 Trial of BN104 as Post-HSCT Maintenance in Acute Leukemia
This is a phase 2, open label, single arm trial. This study aims to assess the efficacy and safety of menin inhibitor BN104 as maintenance therapy in patients with acute leukemia harboring specific genetic alterations who have…
- Conditions
- Menin Inhibitors, Post Hematopoietic Stem Cell Transplantation, Maintenance Therapy, Acute Leukemia
- Trial name
- NCT07101497
- Testing
- BN104 monotherapy
- Where
- China
- Volunteers
- 60 people
- Sponsor
- The First Affiliated Hospital of Soochow University
Dravet Syndrome, Epileptic Encephalopathies Associated With SCN1A Mutations
Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies
This is an expanded access use of Stiripentol in Dravet Syndrome or epileptic encephalopathies associated with sodium channel mutations who have failed other drugs in an effort to give them the best chance at seizure control and…
- Trial name
- NCT02239276
- Testing
- Stiripentol
- Where
- United States
- Sponsor
- Cook Children's Health Care System
Gene Mutation-Related Cancer, Esophageal Cancer
Genomic Study of Relapse Esophageal Cancer After Radiotherapy
Radiotherapy plays an important role in multidisciplinary treatment of esophageal cancer. However, about half patients received radiotherapy occurred relapse. Once relapse occurred, there is no better treatment strategy.
- Conditions
- Gene Mutation-Related Cancer, Esophageal Cancer, Radiation Exposure
- Trial name
- NCT04694391
- Testing
- whole exome sequence
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Fudan University
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure…
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- ACT DMD (NCT01826487)
- Testing
- Ataluren
- Where
- 55 sites in United States, Australia and 16 more
- Volunteers
- 230 people
- Sponsor
- PTC Therapeutics
Leukemia
Studying Biomarkers in Cell Samples From Patients With Acute Myeloid Leukemia
RATIONALE: Studying samples of tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01057199
- Testing
- RNA analysis, gene expression analysis, mutation analysis
- Volunteers
- 6 people
- Sponsor
- Children's Oncology Group
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Attention Deficit Disorder With Hyperactivity
A Noninterventional Genotype/Phenotype Study of mGluR Mutations in Children and Adolescents With ADHD
This noninterventional study will assess genomic changes in the metabotropic glutamate receptor (mGluR) network in children and adolescents with ADHD.
- Trial name
- NCT02811211
- Where
- United States
- Volunteers
- 1,894 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Aortic Valve Calcification, Aortic Stenosis
Prevalence and Significance of Mutations in Genes Encoding NaPi-co-transporters in the Development of CAVD
Mutations in the SLC34A2 gene, that encodes the sodium phosphate co-transporter (NaPi-IIb), cause defect cell-uptake of phosphate, which leads to formation of calcium-phosphate concretions in the lungs as seen in Pulmonary…
- Trial name
- NCT02516800
- Where
- Denmark
- Volunteers
- 600 people
- Sponsor
- University of Aarhus
Cystic Fibrosis
Organoid Study R334W
In contrary to what is seen in FRT cells, rectal organoids of patients with a R334W mutation do respond to CFTR modulators ivacaftor and lumacaftor.
- Trial name
- NCT04254705
- Testing
- Rectal Biopsy
- Where
- 12 sites in Belgium, France and 3 more
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Cystic Fibrosis
A Phase 3 Study of VX-445 Combination Therapy in Cystic Fibrosis (CF) Subjects Heterozygous for F508del and a Gating or Residual Function Mutation (F/G and F/RF Genotypes)
This study will evaluate the efficacy, safety and pharmacodynamics of elexacaftor (ELX, VX-445) in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are heterozygous for…
- Trial name
- NCT04058353
- Testing
- ELX/TEZ/IVA, IVA, TEZ/IVA
- Where
- 93 sites in United States, Australia and 11 more
- Volunteers
- 271 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Non Small Cell Lung Cancer
Tipifarnib in Advanced Squamous NSCLC With Oncogen HRAS MutAtionS
This Phase II study consists of 2 parts: 1) pre-screening phase and 2) treatment phase. The pre-screening phase will investigate the presence of HRAS mutations in subjects with a histologically or cytologically confirmed…
- Trial name
- NCT03496766
- Testing
- Tipifarnib
- Where
- 30 sites in Spain
- Volunteers
- 9 people
- Sponsor
- Spanish Lung Cancer Group
Citrate Transporter Deficiency, SLC13A5 Gene Mutation
Triheptanoin (UX007) to Treat Citrate Transporter Deficiency
The purpose of this study is to determine whether triheptanoin (UX007) is effective in the treatment of neurological symptoms related to citrate transporter deficiency (SLC13A5 gene mutation).
- Trial name
- NCT02500082
- Testing
- triheptanoin
- Where
- United States
- Sponsor
- Irina A Anselm
Non-Small Cell Lung Cancer
An epidemiOlogy Study to deteRmine the Prevalence of EGFR (Epidermal Growth Factor Receptor) muTations in RUSsian Patients With Advanced NSCLC (Non-Small Cell Lung Cancer).
This is a multicentre, non-interventional, prospective study to be carried out in representative oncology departments / institutions in order to determine the prevalence of EGFR mutations in treatment-naive Russian patients with…
- Trial name
- ORTUS (NCT02321046)
- Where
- 26 sites in Russia
- Volunteers
- 26 people
- Sponsor
- AstraZeneca
Lung Cancer
Vaccine Therapy and Sargramostim in Treating Patients With Non-small Cell Lung Cancer
RATIONALE: Vaccines may make the body build an immune response to kill tumor cells. Colony-stimulating factors such as sargramostim may increase the number of immune cells found in bone marrow or peripheral blood.
- Trial name
- NCT00005630
- Testing
- ras peptide cancer vaccine, sargramostim
- Where
- United States
- Sponsor
- Memorial Sloan Kettering Cancer Center
Hereditary Multiple Melanoma, Melanoma (Skin)
Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma
RATIONALE: Identifying gene mutations and other risk factors in patients with melanoma and in families with a history of hereditary melanoma may help doctors identify persons at risk for melanoma and other types of cancer.
- Trial name
- NCT00450593
- Testing
- gene expression analysis, microarray analysis, molecular genetic technique
- Where
- United Kingdom
- Volunteers
- 5,000 people
- Sponsor
- Leeds Cancer Centre at St. James's University Hospital
Inherited Retinal Diseases
Extension Study of the PUMCH-E101 Clinical Trial：Safety and Efficacy Study of PUMCH-E101 Injection in the Contralateral Eye
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E101 injection in the contralateral eye of subjects with RDH12 retinopathy.
- Trial name
- NCT07878572
- Testing
- PUMCH-E101 Injection(High dose)
- Where
- China
- Volunteers
- 8 people
- Sponsor
- Peking Union Medical College Hospital
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
Helicobacter Pylori Infection
The Prevalence of Family-unit Helicobacter Pylori Infection in Jiangsu
To assess Family-unit Helicobacter Pylori Infection rates and antimicrobial resistance rates in Jiangsu,China
- Trial name
- NCT05654857
- Testing
- PCR test in the stool
- Where
- 16 sites in China
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Nanjing First Hospital, Nanjing Medical University
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