Clinical trials: Mutations
Skeletal Class III Malocclusion
Figuring Out the Genetic Mutations That Lead to Lower Jaw Advancement More Than the Upper Jaw
Purpose of the Research: To reveal the genetic cause for the occurrence of Class III malocclusion, or what may be described as a reverse bite (underbite). Introduction and Detailed Procedures for the Patient (Work Plan): 1.
- Trial name
- NCT07749638
- Where
- Egypt
- Volunteers
- 93 people
- Sponsor
- Cairo University
Lynch Syndrome
Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria
The purpose of this study is to find out the proportion of patients diagnosed with Lynch syndrome in colorectal cacner patients meeting Chinese Lynch syndrome criteria.
- Trial name
- NCT03046849
- Testing
- next-generation sequencing
- Where
- 3 sites in China
- Volunteers
- 100 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Non-Small Cell Lung Cancer, Medullary Thyroid Cancer
A Study of Selpercatinib (LOXO-292) in Participants With Advanced Solid Tumors, RET Fusion-Positive Solid Tumors, and Medullary Thyroid Cancer (LIBRETTO-001)
This is an open-label, first-in-human study designed to evaluate the safety, tolerability, pharmacokinetics (PK) and preliminary anti-tumor activity of selpercatinib (also known as LOXO-292) administered orally to participants…
- Conditions
- Non-Small Cell Lung Cancer, Medullary Thyroid Cancer, Colon Cancer, Any Solid Tumor
- Trial name
- LIBRETTO-001 (NCT03157128)
- Testing
- LOXO-292
- Where
- 85 sites in United States, Australia and 14 more
- Volunteers
- 857 people
- Sponsor
- Eli Lilly and Company
Retinal Disorder
Safety and Efficacy of Zuretinol Acetate in Subjects With Inherited Retinal Disease
To evaluate the efficacy of ZA oral solution in subjects with IRD caused by biallelic recessive RPE65 or LRAT gene mutations and phenotypically diagnosed as Leber's Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP).
- Trial name
- NCT04311112
- Testing
- ZA Low dose, ZA high dose
- Where
- United States
- Sponsor
- Retinagenix Holdings
Endometrial Neoplasms
The Role of POLE Mutation in High Risk Endometrial Cancer.
The actual role of POLE mutations in high-risk endometrial cancer is undetermined. The main question it aims to answer is: What is the prevalence of POLE mutations in high-risk endometrial cancer case? What is the impact of POLE…
- Trial name
- NCT07114653
- Where
- Taiwan
- Volunteers
- 150 people
- Sponsor
- Far Eastern Memorial Hospital
Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy
Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD).
- Trial name
- NCT07778641
- Testing
- Whole exome sequencing.
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Sohag 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
Tuberous Sclerosis Complex
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction…
- Trial name
- NCT04112537
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
Hearing Impairment
Epidemiology of Non-syndromic Dominant Deafness
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness.
- Trial name
- SURDOM (NCT01150305)
- Testing
- blood sample
- Where
- France
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hearing Loss, Pendred Syndrome
Clinical Phenotypic Characteristics of SC26A4
The presence or absence of SC26A4, whether combined with Mondini malformation, and patient age, are important factors affecting the degree of hearing loss in the Chinese population.
- Trial name
- NCT05970445
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Chinese PLA General Hospital
Respiratory Distress Syndrome, Newborn
ABCA3 Gene and RDS in Late Preterm and Term Infants
Respiratory distress syndrome (RDS) is the most common respiratory cause of mortality and morbidity in very preterm infants, but it also could be seen in late preterm and term infants.
- Trial name
- NCT04137783
- Testing
- no intervention
- Where
- China
- Volunteers
- 39 people
- Sponsor
- Children's Hospital of Chongqing Medical University
Hypereosinophilic Syndrome, Systemic Mastocytosis
Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes
This trial is for various types of malignancies which may depend on certain enzymes (tyrosine kinases) for growth. The objective of this study is to assess to what extent imatinib mesylate blocks these enzymes and to assess the…
- Conditions
- Hypereosinophilic Syndrome, Systemic Mastocytosis, Chronic Myelomonocytic Leukemia, Dermatofibrosarcoma
- Trial name
- NCT00171912
- Testing
- imatinib mesylate
- Where
- Australia
- Volunteers
- 38 people
- Sponsor
- Novartis Pharmaceuticals
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations
The goal of this study is to examine the safety and treatment effects of sirolimus for targeting social communication deficits in people with genetic disorders associated with PTEN germline mutations, which are often referred to…
- Conditions
- PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome, PTEN Hamartoma Syndrome
- Trial name
- NCT06080165
- Testing
- Sirolimus
- Where
- 3 sites in United States
- Sponsor
- Stanford University
Insulin Resistance, Diabetes Mellitus
Thyroid Hormone to Induce Non-Insulin Mediated Glucose Disposal in People With Insulin Receptor Mutations
Background: Insulin receptor mutation causes high blood sugars and sometimes diabetes complications. Researchers want to see if thyroid hormone helps.
- Conditions
- Insulin Resistance, Diabetes Mellitus, Abnormal Glucose Metabolism
- Trial name
- NCT02457897
- Testing
- Liothyronine
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Inherited Retinal Degeneration Associated With RPGR Mutations, Inherited Retinal Degeneration Associated With Biallelic RPE65 Mutations
Monitoring and Early Detection of Treatable Inherited RETinal Disease in Children and Adolescents
The goals of this observational study are to develop and train artificial intelligence (AI) algorithms using multimodal imaging to identify patients with inherited retinal degeneration (IRD) caused by Retinal Pigment Epithelium…
- Trial name
- MEDIRET (NCT07901907)
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 4,887 people, healthy volunteers welcome
- Sponsor
- University College, London
Essential Thrombocythemia (ET)
Exploratory Multi-centre Trial In Patients With ET Treated With XAGRID®
This study is hypothesis-generating to explore the impact of JAK2 (V617F) mutation status on the treatment response to anagrelide hydrochloride
- Trial name
- EMIX (NCT01352585)
- Testing
- Anagrelide hydrochloride
- Where
- 10 sites in Italy
- Volunteers
- 47 people
- Sponsor
- Shire
Genetic Disease, Nonsense Mutation
A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele.
- Conditions
- Genetic Disease, Nonsense Mutation, Cystinosis
- Trial name
- NCT04069260
- Testing
- ELX-02
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Acute Myeloid Leukemia (AML)
Digital PCR of CHIP and MR for MRD Monitoring After Allo-HSCT in AML
This prospective observational study aims to evaluate the clinical significance of measurable residual disease (MRD) monitoring using digital PCR (dPCR) in patients with acute myeloid leukemia (AML) following allogeneic…
- Trial name
- NCT07500441
- Testing
- Individualized Digital PCR (dPCR) monitoring
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Peking University People's Hospital
Cystic Fibrosis
Energy Balance and Weight Gain With Ivacaftor Treatment
Ivacaftor is a novel, FDA approved new therapy that addresses Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunctions in subjects with Cystic fibrosis (CF) and "gating mutations".
- Trial name
- NCT02141464
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's Hospital of Philadelphia
Recurrent Low Grade Astrocytoma, Recurrent WHO Grade 2 Glioma
A Study to Compare Treatment With the Drug Selumetinib Alone Versus Selumetinib and Vinblastine in Patients With Recurrent or Progressive Low-Grade Glioma
This phase III trial investigates the best dose of vinblastine in combination with selumetinib and the benefit of adding vinblastine to selumetinib compared to selumetinib alone in treating children and young adults with…
- Conditions
- Recurrent Low Grade Astrocytoma, Recurrent WHO Grade 2 Glioma, Refractory Low Grade Astrocytoma, Refractory Low Grade Glioma
- Trial name
- NCT04576117
- Testing
- Biospecimen Collection, Magnetic Resonance Imaging, Quality-of-Life Assessment
- Where
- 101 sites in United States, Canada
- Volunteers
- 300 people
- Sponsor
- National Cancer Institute (NCI)