Clinical trials: Mutations
Germline Mutation, Myelodysplastic Syndromes
Study of Individuals and Families With Aberrations in DDX41 or Similar Cancer Predisposition Variants
Background: Hereditary hematopoietic malignancy (HHM) syndromes are a group of inherited disorders that raises the risk of blood cancers.
- Conditions
- Germline Mutation, Myelodysplastic Syndromes, Acute Myeloid Leukemia
- Trial name
- NCT07019155
- Where
- United States
- Volunteers
- 510 people
- Sponsor
- National Cancer Institute (NCI)
Intellectual Disability
Various Type of Genetic Events in Patients With Intellectual Disability
Currently, for a patient with intellectual disability without a recognizable syndrome (most cases), the way to diagnosis is often long, tedious and expensive because different approaches are used one after the other to identify…
- Trial name
- CNV-Seq (NCT02881333)
- Testing
- Blood samples
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France
Sarcoma
Studying Genes in Samples From Younger Patients With Rhabdomyosarcoma
RATIONALE: Studying samples of blood and tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and find biomarkers related to cancer.
- Trial name
- NCT01585376
- Testing
- mutation analysis, nucleic acid sequencing, laboratory biomarker analysis
- Volunteers
- 58 people
- Sponsor
- Children's Oncology Group
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
Locally Advanced Solid Tumor, Metastatic Solid Tumor
A Study of Neladalkib (NVL-655) in Patients With Advanced NSCLC and Other Solid Tumors Harboring ALK Rearrangement or Activating ALK Mutation (ALKOVE-1)
Phase 1/2, dose escalation and expansion study designed to evaluate the safety and tolerability of neladalkib (NVL-655), determine the recommended phase 2 dose (RP2D), and evaluate the antitumor activity in patients with advanced…
- Trial name
- NCT05384626
- Testing
- Neladalkib (NVL-655), Midazolam, Repaglinide
- Where
- 74 sites in United States, Australia and 13 more
- Volunteers
- 840 people
- Sponsor
- Nuvalent Inc.
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
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
Cystic Fibrosis
A Phase 3 Study of Tezacaftor (VX-661) in Combination With Ivacaftor (VX-770) in Subjects Aged 12 Years and Older With Cystic Fibrosis (CF), Who Have One F508del-CFTR Mutation and a Second Mutation That Has Been Demonstrated to be Clinically Responsive to Ivacaftor
This is a Phase 3, randomized, double-blind, ivacaftor-controlled, parallel-group, multicenter study of tezacaftor in combination with ivacaftor in subjects aged 12 years and older with CF who are heterozygous for the…
- Trial name
- NCT02412111
- Testing
- Ivacaftor, Tezacaftor/Ivacaftor
- Where
- 68 sites in United States, Australia and 8 more
- Volunteers
- 156 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Mastocytosis
Molecular Mechanisms and Diagnosis of Mastocytosis
Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in skin, bone marrow and internal organs.
- Trial name
- NCT00336076
- Testing
- Collection of blood and bone marrow
- Where
- United States
- Volunteers
- 136 people
- Sponsor
- University of Michigan
Achromatopsia
Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia (A Clarity Clinical Trial)
This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-402, administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGA3 gene.
- Trial name
- NCT02935517
- Testing
- AGTC-402
- Where
- 6 sites in United States, Israel
- Volunteers
- 24 people
- Sponsor
- Beacon Therapeutics
Duchenne Muscular Dystrophy With Mutations Amenable to PBGENE-DMD
PBGENE-DMD Phase 1/2a Safety and Preliminary Efficacy Study in Duchenne Muscular Dystrophy (FUNCTION-DMD)
The purpose of this Phase 1/2a trial is to evaluate the safety, tolerability, and preliminary efficacy of PBGENE-DMD in patients with DMD harboring mutations amenable to excision of exons 45-55.
- Trial name
- NCT07429240
- Testing
- PBGENE-DMD (IV)
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- Precision BioSciences, Inc.
Craniometaphyseal Dysplasia
Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD.
- Trial name
- CMD (NCT01630460)
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- UConn Health
Retinoblastoma, Melanoma
Retinoblastoma Biomarker Study
Retinoblastoma is a rare pediatric ocular tumor caused by germline and/or somatic mutations in the tumor suppressor gene RB1. Survivors of retinoblastoma, particularly those with the hereditary form of the disease (germline RB1…
- Conditions
- Retinoblastoma, Melanoma, Sarcoma
- Trial name
- NCT00342797
- Where
- 4 sites in United States
- Volunteers
- 2,136 people
- Sponsor
- National Cancer Institute (NCI)
Leukemia
Biomarkers in Blood Samples From Patients With Acute Myeloid Leukemia
RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors identify and lean more about biomarkers related to cancer.
- Trial name
- NCT01385150
- Testing
- mutation analysis, protein analysis, laboratory biomarker analysis
- Volunteers
- 220 people
- Sponsor
- Eastern Cooperative Oncology Group
FAP-Familial Adenomatous Polyposis
Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version
Colorectal cancer (CRC) is a leading cause for cancer related mortality in the western world with a lifetime risk of 6%. Etiology is complex, while genetic background significantly affects the risk.
- Trial name
- NCT02354560
- Testing
- Erythromycin
- Volunteers
- 15 people
- Sponsor
- michal roll
X-Linked Retinitis Pigmentosa
Gene Therapy for Subjects With RPGR Mutation-associated X-linked Retinitis Pigmentosa
A clinical trial of gene therapy for patients with X-linked retinitis pigmentosa (XLRP).
- Trial name
- NCT05874310
- Testing
- FT-002
- Where
- 2 sites in China
- Volunteers
- 18 people
- Sponsor
- Frontera Therapeutics
FLT3-ITD Mutation, Acute Myeloid Leukemia
Combination of BTK Inhibitor Overcomes Drug-resistance in Refractory/Relapsed FLT3 Mutant AML
Clinical efficacy of FLT3 inhibitors combining with chemotherapy is usually transient and followed by emergence of drug-resistance in FLT3-ITD mutant AML. BTK is reported to be a therapeutic target in this subtype leukemia.
- Conditions
- FLT3-ITD Mutation, Acute Myeloid Leukemia, Brutons Tyrosine Kinase
- Trial name
- NCT03642236
- Testing
- Ibrutinib
- Where
- China
- Volunteers
- 122 people
- Sponsor
- Nanfang Hospital, Southern Medical University
Mitochondrial Diseases
Establishment of Reproductive Cohort and Prediction Model of Genetic Counseling for Mitochondrial Genetic Diseases
The goal of this observational study is to provide a reference for clinicians to conduct genetic counseling and carry out preimplantation genetic testing of mitochondrial patients.
- Trial name
- NCT06450964
- Testing
- Biological samples such as blood, urine, oral epithelial cells and nails of carriers were collected, and the mitochondrial DNA mutation heterogeneity level was determined.
- Where
- China
- Volunteers
- 600 people
- Sponsor
- Anhui Medical University
Gene Insertions, Gene Deletion
Gene Biobank of Sports Injuries
Preserve biological samples and gene extracts of all sports medicine-related diseases. To study related gene mutation sites and regulation. To study related molecular mechanisms and signaling pathways.
- Trial name
- NCT04997629
- Where
- China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
ALL, Adult, AML, Adult
A Study of BN104 in the Treatment of Acute Leukemia
The Phase I/II trial is to learn the safety, pharmacokinetics, and preliminary efficacy of BN104 taken once daily or twice daily in patients with acute lymphocytic leukemia or acute myeloblastic leukemia.
- Conditions
- ALL, Adult, AML, Adult, Acute Leukaemia, KMT2A Rearrangement
- Trial name
- NCT06052813
- Testing
- BN104 monotherapy, BN104 monotherapy - rp2d
- Where
- China
- Volunteers
- 66 people
- Sponsor
- Institut de Recherches Internationales Servier (I.R.I.S.)