Clinical trials: Mutation
Cardiomyopathy, Hypertrophic, Familial
Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease
Genetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information.
- Trial name
- NCT00001881
- Where
- United States
- Volunteers
- 9,999 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Inherited Retinal Dystrophy Primarily Involving Sensory Retina, Inherited Retinal Dystrophy Primarily Involving Retinal Pigment Epithelium
Study on the Effects of Mutations Under Inherited Retinal Disease in Korean
To develop comprehensive genetic maps of inherited retinal diseases in Korean Establishment of comprehensive genetic database in Koreans with inherited retinal diseases including frequently mutated genes, genotype-phenotype…
- Trial name
- NCT03613948
- Where
- South Korea
- Volunteers
- 280 people
- Sponsor
- Gangnam Severance Hospital
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
AML
Efficacy and Safety of ATO Plus ATRA in Nucleophosmin-1 Mutated Acute Myeloid Leukemia
In this open-label, randomized, prospective clinical trial, nucleophosmin-1(NPM1) mutated acute myeloid leukemia (AML) patients who have reached CR are randomized into two groups.The control group receive high-dose…
- Trial name
- NCT03031249
- Testing
- Cytarabine, all-trans retinoic acid, Arsenic Trioxide
- Where
- China
- Volunteers
- 80 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Retinal Dystrophy
A Study of LX107 Gene Therapy in AIPL1-IRD Patients
Administering subretinal injection of LX107 injection (a gene therapy drug) to patients with retinal dystrophy caused by AIPL1 gene mutation to evaluate its efficacy and safety.
- Trial name
- NCT07063030
- Testing
- LX107 Injection
- Where
- China
- Volunteers
- 13 people
- Sponsor
- Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
Osteopetrosis
Gene-Modified Stem Cell Therapy for Children With Autosomal Recessive Osteopetrosis (ARO)
This is a non-randomized, one-arm, open label, single-center, phase I/II, prospective study, to assess safety, feasibility and efficacy of FT024 in 8 children (Age: ≥ 28 days and ≤ 2 years old, Body weight: ≥ 4 kg) affected by…
- Trial name
- ARO (NCT07665021)
- Testing
- FT024
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Fondazione Telethon
Cystic Fibrosis
A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor
This is a Phase 3, randomized, double blind, placebo controlled, parallel group, multicenter study in people with cystic fibrosis (CF) who are homozygous for the F508del CF transmembrane conductance regulator (CFTR) gene mutation.
- Trial name
- NCT02347657
- Testing
- VX-661 Plus Ivacaftor Combination, Ivacaftor
- Where
- 74 sites in United States, Canada and 10 more
- Volunteers
- 510 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Medullary Thyroid Cancer, Infantile Myofibromatosis
A Study of Oral LOXO-292 (Selpercatinib) in Pediatric Participants With Advanced Solid or Primary Central Nervous System (CNS) Tumors
This is an open-label, multi-center Phase 1/2 study of oral LOXO-292 in pediatric participants with an activating rearranged during transfection (RET) alteration and an advanced solid or primary CNS tumor.
- Conditions
- Medullary Thyroid Cancer, Infantile Myofibromatosis, Infantile Fibrosarcoma, Papillary Thyroid Cancer
- Trial name
- LIBRETTO-121 (NCT03899792)
- Testing
- Selpercatinib
- Where
- 26 sites in United States, Australia and 9 more
- Volunteers
- 36 people
- Sponsor
- Eli Lilly and Company
Neurological Diseases
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases.
- Trial name
- NGS (NCT02340871)
- Testing
- Genetic testing
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
MDC1A, SELENON-related Myopathy
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene.
- Trial name
- NCT04478981
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 38 people
- Sponsor
- Radboud University Medical Center
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
Crohn Disease
Search for New Genetic Mutations Major Effect in Crohn's Disease
This study highlight genetics mutations with major effect in Crohn's Disease (CD) by WES in individuals affected and healthy individuals from EPIMAD Inserm InVS registry families.
- Trial name
- MC-WES (NCT02851134)
- Testing
- genetic analysis, blood and stools samples
- Where
- France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Lille
Single Gene Disorders
Clinical Use of Parental Support To Detect Single Gene Mutations
Gene Security Network has developed a novel technology called Parental Support (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- NCT01197872
- Testing
- Preimplantation Genetic Diagnosis
- Where
- United States
- Volunteers
- 240 people
- Sponsor
- Natera, Inc.
Cystic Fibrosis
A Study to Evaluate Efficacy of Ivacaftor in Subjects With Cystic Fibrosis Who Have a 3849 + 10KB C→T or D1152H CFTR Mutation
This study will evaluate the efficacy of ivacaftor treatment in subjects with CF 6 years of age and older who have a 3849 + 10KB C→T or D1152H CFTR mutation.
- Trial name
- NCT03068312
- Testing
- Ivacaftor
- Where
- Israel
- Volunteers
- 38 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
A Study to Evaluate the Safety and Efficacy of VX-371 in Subjects With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation
The purpose of this study is to evaluate the safety and efficacy of treatment with VX-371 in hypertonic saline compared to hypertonic saline alone in subjects with cystic fibrosis (CF) who are ≥12 years of age, homozygous for the…
- Trial name
- NCT02709109
- Testing
- VX-371 + HS, Hypertonic saline, Orkambi
- Where
- 40 sites in United States, France and 2 more
- Volunteers
- 147 people
- Sponsor
- Parion Sciences
Cardiomyopathies, Dilated Cardiomyopathy
Pediatric Cardiomyopathy Mutation Analysis
The goal of this protocol is to obtain information from individuals with cardiomyopathy and from their families in order to elucidate the molecular genetics of this disorder.
- Conditions
- Cardiomyopathies, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Restrictive Cardiomyopathy
- Trial name
- NCT02432092
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Indiana University
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
Cystic Fibrosis
Rollover Study of Ivacaftor in Subjects With Cystic Fibrosis and a Non G551D CFTR Mutation
The purpose of this study is to evaluate the safety of long-term ivacaftor treatment in participants with cystic fibrosis (CF) from Studies 110 (NCT01614457), 111 (NCT01614470), and 113 (NCT01685801).
- Trial name
- KONTINUE (NCT01707290)
- Testing
- Ivacaftor
- Where
- 38 sites in United States, Belgium and 2 more
- Volunteers
- 125 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Breast Cancer, Ovarian Cancer
Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation
Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non…
- Conditions
- Breast Cancer, Ovarian Cancer, Colorectal Cancer, Pediatric Cancers
- Trial name
- PANEL (NCT02664389)
- Testing
- Genetic analysis
- Where
- France
- Volunteers
- 289 people
- Sponsor
- University Hospital, Rouen