Clinical trials: Mutation Abnormality
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
Inflammatory Bowel Disease
Telomere Repair Gene Mutation in Inflammatory Bowel Disease
This study will evaluate and compare the genes of the telomere repair complex in healthy control subjects, patients with blood diseases, and patients with inflammatory bowel disease to identify what, if any, changes are…
- Trial name
- NCT00353639
- Where
- United States
- Volunteers
- 95 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Generalized Aggressive Periodontitis, Chronic Periodontitis
Evaluation of Possible Genes in Periodontal Diseases by Genetic Methods
Generalized aggressive Periodontitis (GAgP) and chronic periodontitis (CP) are inflammatory diseases. Little is known about molecular changes and signaling cascade of host response.
- Trial name
- NCT04026828
- Testing
- Periodontitis Group
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Kocaeli University
Breast Cancer
Mutation of BRCA1/2 and Other Potential Genes in Triple-negative Breast Cancer
The study is to determine the prevalence of potential chemo-response related genes mutation in TNBC patients between pCR and SD/PD group, which achieved after NAC; and to evaluate potential relationship between these gene…
- Trial name
- NCT02670668
- Testing
- Mutation analysis
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Fudan University
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
β-thalassemia Major
β-globin Restored Autologous HSC in β-thalassemia Major Patients
This is a single center, single arm, open-label study to determine the safety and efficacy of β-globin restored autologous hematopoietic stem cells in β- thalassemia major patients with CVS-654 mutation.
- Trial name
- NCT04205435
- Testing
- β-globin restored autologous HSC
- Where
- China
- Volunteers
- 2 people
- Sponsor
- Bioray Laboratories
Non-small Cell Lung Cancer
Special Drug Use-results Surveillance of Tabrecta Tablets
This study was an uncontrolled, primary data collection-based observational study to be conducted as a central registration system, multicenter special drug-use results surveillance.
- Trial name
- NCT04575025
- Testing
- Tabrecta tablets
- Where
- 78 sites in Japan
- Volunteers
- 109 people
- Sponsor
- Novartis Pharmaceuticals
Infantile Spasms, West Syndrome
Molecular Genetics in Infantile Spasms
Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life.
- Trial name
- NCT02885389
- Volunteers
- 41 people
- Sponsor
- Hospices Civils de Lyon
Giant Axonal Neuropathy (GAN)
Intraneural Administration of scAAV9/JeT-GAN Into the Vagus Nerve for Patients With Giant Axonal Neuropathy (GAN)
Giant axonal neuropathy (GAN) is a rare pediatric disorder caused by autosomal recessive mutations in the GAN gene. GAN is a multisystem, neurodegenerative disorder affecting the peripheral nervous system (PNS), central nervous…
- Trial name
- NCT07543991
- Testing
- scAAV9/JeT-GAN
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of Texas Southwestern Medical Center
RETT Syndrome With Proven MECP2 Mutation, Rett Syndrome
Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design.
- Trial name
- TRANSCEND (NCT07257978)
- Testing
- NTI164
- Where
- Australia
- Volunteers
- 40 people
- Sponsor
- Fenix Innovation Group
Neurodevelopmental Disorders, Intellectual Disability
Impact of Sulphonylureas on Neurodevelopmental Outcomes in KCNJ11-related Intermediate Developmental Delay, Epilepsy and Neonatal Diabetes (iDEND) Syndrome
The goal of this observational study is to learn about the impact of the diabetes drug glibenclamide (glyburide) on neurodevelopment in individuals with iDEND (developmental delay, epilepsy and neonatal diabetes) due to the V59M…
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Development Delay, ADHD
- Trial name
- iDEND (NCT05751525)
- Testing
- Sulfonylurea
- Where
- 4 sites in United States, Italy and 2 more
- Volunteers
- 21 people
- Sponsor
- Royal Devon and Exeter NHS Foundation Trust
Leber Congenital Amaurosis 10, Blindness
An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
PQ-110-005 (BRIGHTEN) is an open-label, dose escalation and double-masked, randomized, controlled study evaluating safety and tolerability of sepofarsen administered via intravitreal (IVT) injection in pediatric subjects (<8…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- BRIGHTEN (NCT04855045)
- Testing
- sepofarsen
- Where
- 9 sites in Belgium, Brazil and 5 more
- Volunteers
- 15 people
- Sponsor
- ProQR Therapeutics
Ewing Sarcoma, PEComa
Nivolumab (Opdivo®) Plus ABI-009 (Nab-rapamycin) for Advanced Sarcoma and Certain Cancers
This study investigates the safety/toxicity and potential anti-tumor activity of sequential administration of nivolumab and escalating doses of the mammalian target of rapamycin (mTOR) inhibitor nab-rapamycin (ABI-009) in…
- Conditions
- Ewing Sarcoma, PEComa, Epithelioid Sarcoma, Desmoid Tumor
- Trial name
- NCT03190174
- Testing
- Nab-Rapamycin, Nivolumab
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- Sarcoma Oncology Research Center, LLC
Epilepsy
Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome
This is a phase 2, crossover study of Ataluren for the treatment of nonsense mutation Dravet syndrome or cyclin-dependent kinase-like 5 (CDKL5) deficiency, resulting in drug-resistant epilepsy.
- Trial name
- NCT02758626
- Testing
- ataluren
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- NYU Langone Health
Duchenne Muscular Dystrophy
Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Trial name
- NCT00759876
- Testing
- Ataluren
- Where
- 3 sites in United States
- Volunteers
- 36 people
- Sponsor
- PTC Therapeutics
Congenital Disorders
Infant Medical Records: Case Report Proposal
Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS.
- Trial name
- NCT00268060
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Children's Healthcare of Atlanta
Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood
A Prospective Multicenters Clinical Cohort Study of Stratified Treatment of Chinese Children With LBL
With the development of molecular biology and precise medical treatment, new challenges have been raised in the diagnosis and treatment of non-Hodgkin lymphoma (NHL) in children.
- Conditions
- Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood, PTEN Loss, NOTCH1 Gene Mutation
- Trial name
- NCT03971318
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Sun Yat-sen University
Carcinoid Neuroendocrine Cancer
Study Investigating MEN1 and SDHD in Familial Carcinoid Tumors
There is a high incidence among the first degree relatives of the carcinoid patients, indicating the involvement of genetic components in its initiation and pathogenesis.
- Trial name
- NCT00672269
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Rutgers University
Grade 2 Astrocytoma or Oligodendroglioma With an IDH1 or IDH2 Mutation
Vorasidenib Study in Pediatric Participants With Grade 2 Astrocytoma or Oligodendroglioma With an IDH1 or IDH2 Mutation
The objective of this study is to evaluate the safety, tolerability, efficacy profile, and effect on growth and development of vorasidenib in pediatric participants aged 12 to < 18 years old with grade 2 glioma with an IDH1 or…
- Trial name
- NCT07286292
- Testing
- Vorasidenib
- Where
- 5 sites in United States, Australia
- Volunteers
- 10 people
- Sponsor
- Institut de Recherches Internationales Servier (I.R.I.S.)
Myotubular Myopathy
Myotubular Myopathy Genetic Testing Study
Myotubular myopathy (XLMTM) is an X-linked disorder caused by mutations in the myotubularin gene (MTM1). The clinical spectrum is variable and ranges from individuals who require a wheelchair and full time breathing support to…
- Trial name
- NCT01817946
- Testing
- Genetic Testing
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Cure CMD