Clinical trials: Mutation
Melanoma, Skin Neoplasms
HDAC Inhibitor Vorinostat in Resistant BRAF V600 Mutated Advanced Melanoma
This is a mono-center open-label proof-of-concept pharmacologic study to explore the efficacy and safety of vorinostat in advanced BRAF mutated melanoma, which became resistant for BRAF-inhibitors or the combination of BRAF- and…
- Trial name
- NCT02836548
- Testing
- Vorinostat
- Where
- Netherlands
- Volunteers
- 33 people
- Sponsor
- The Netherlands Cancer Institute
High Grade Glioma, Astrocytoma
Study of Olutasidenib and Temozolomide in HGG
The goal of this study is to determine the efficacy of the study drug olutasidenib to treat newly diagnosed pediatric and young adult patients with a high-grade glioma (HGG) harboring an IDH1 mutation.
- Conditions
- High Grade Glioma, Astrocytoma, Astrocytoma, Grade III, Astrocytoma, Grade IV
- Trial name
- NCT06161974
- Testing
- Olutasidenib + TMZ
- Where
- 20 sites in United States, Australia and 5 more
- Volunteers
- 60 people
- Sponsor
- Rigel Pharmaceuticals
Malformations, Multiple Abnormalies
Phenotype and Etiology of Pallister-Hall Syndrome
We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl…
- Conditions
- Malformations, Multiple Abnormalies, Polydactyly
- Trial name
- NCT00001404
- Where
- 4 sites in United States, Turkey (Türkiye)
- Volunteers
- 1,170 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cystic Fibrosis
A Study of VX-445 Combination Therapy in CF Subjects Homozygous for F508del (F/F)
This study will evaluate the efficacy of VX-445 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are homozygous for the F508del mutation (F/F)
- Trial name
- NCT03525548
- Testing
- VX-445/TEZ/IVA, TEZ/IVA, IVA
- Where
- 44 sites in United States, Belgium and 2 more
- Volunteers
- 113 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Junctional Epidermolysis Bullosa
Gentamicin for Junctional Epidermolysis Bullosa
Herlitz junctional epidermolysis bullosa (H-JEB), an incurable, fatal, inherited skin disease, is caused by loss-of-function mutations in the LAMA3, LAMB3 or LAMC2 genes, resulting in loss of laminin 332 and poor epidermal-dermal…
- Trial name
- NCT03526159
- Testing
- Gentamicin Sulfate
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Southern California
Slow-Flow Vascular Malformation, Fast-Flow Vascular Malformation
A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations
Recent studies have demonstrated that growth of vascular malformations can be driven by genetic variants in one of 2 signalling pathways.
- Conditions
- Slow-Flow Vascular Malformation, Fast-Flow Vascular Malformation, Vascular Malformations, Venous Malformation
- Trial name
- TARGET-VM (NCT05983159)
- Testing
- Alpelisib, Mirdametinib
- Where
- 2 sites in Australia
- Volunteers
- 50 people
- Sponsor
- Murdoch Childrens Research Institute
AML, Adult
VAG Versus Standard Chemotherapy With FLT3 Inhibitor in Adult Patients With FLT3-Mutated AML
This is a multicenter, randomized, controlled, open-label phase III trial evaluating the efficacy and safety of the VAG regimen (azacitidine, venetoclax, and gilteritinib) compared with standard 3+7 chemotherapy (cytarabine plus…
- Trial name
- VAG-3+7-G (NCT07407140)
- Testing
- Gilteritinib + Azacitidine + Venetoclax, Cytarabine + Daunorubicin (or Idarubicin) + Gilteritinib, Re-induction Therapy
- Volunteers
- 300 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Exostoses, Multiple Hereditary
Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project
The investigator's goal for this project is to examine the causes of the wide variability of the expression of Hereditary Multiple Exostoses (HME).
- Trial name
- NCT00474331
- Where
- Canada
- Volunteers
- 2,000 people
- Sponsor
- University of British Columbia
Cystic Fibrosis
A Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Heterozygous for the F508del-CFTR Mutation
Study to evaluate the efficacy of VX-661 in combination with ivacaftor (IVA, VX-770) through Week 12 in participants with cystic fibrosis (CF) who are heterozygous for the F508del mutation on the CF transmembrane conductance…
- Trial name
- NCT02516410
- Testing
- VX-661 plus ivacaftor combination, Ivacaftor
- Where
- 41 sites in United States, Australia and 5 more
- Volunteers
- 168 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
A Study of Ataluren in Pediatric Participants With Cystic Fibrosis
In some participants with cystic fibrosis (CF), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the cystic fibrosis transmembrane regulator (CFTR) protein.
- Trial name
- NCT00458341
- Testing
- Ataluren
- Where
- 3 sites in Belgium, France
- Volunteers
- 30 people
- Sponsor
- PTC Therapeutics
Orofaciodigital Syndromes
Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene
The aim of this multicentre study will be to better describe the clinical characteristics and the etiological bases of patients with OFD syndrome by identifying new genes involved in OFD syndrome.
- Trial name
- OFD1 (NCT01962129)
- Testing
- Sampling of blood
- Where
- France
- Volunteers
- 133 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Astrocytoma, IDH-Mutant, Grade 3
Testing Addition of an Anti-cancer Drug, Vorasidenib to Temozolomide, After Radiation for Advanced Brain Cancer
This phase III trial compares the effect of vorasidenib to placebo in combination with usual treatment, temozolomide, in treating patients with newly diagnosed grade 3 astrocytoma after radiation.
- Trial name
- NCT07215910
- Testing
- Intensity-Modulated Radiation Therapy, Volume Modulated Arc Therapy, Pencil Beam Scanning
- Where
- 152 sites in United States
- Volunteers
- 408 people
- Sponsor
- Alliance for Clinical Trials in Oncology
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
NLRC4-MAS, XIAP Deficiency
Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency
This is a Phase 3 study to assess the safety and efficacy of Tadekinig alfa in patients with monogenic, interleukin-18 (IL 18) driven autoinflammation due to Nucleotide-binding oligomerization domain, leucine-rich repeat and…
- Trial name
- NCT03113760
- Testing
- Tadekinig alfa, 0.9% sodium chloride
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- AB2 Bio Ltd.
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