Clinical trials: Mutations
Neoplasms, Brain
A Study to Determine Safety, Tolerability and Pharmacokinetics of Oral Dabrafenib In Children and Adolescent Subjects
This was a 2-part, Phase I/IIa, multi-center, open label, study in pediatric and adolescent patients with advanced BRAF V600 mutation-positive solid tumors.
- Trial name
- NCT01677741
- Testing
- Dabrafenib
- Where
- 26 sites in United States, Australia and 8 more
- Volunteers
- 85 people
- Sponsor
- Novartis Pharmaceuticals
NF2 Deficiency
Gene Therapy for Neurofibromatosis Type 2 (NF2) with ST002
This is an open-label, single-arm, dose-escalation pilot study to evaluate the safety, tolerability and preliminary efficacy of ST002 in the treatment of patients with NF2 mutation-related solid tumors.
- Trial name
- NCT06834438
- Testing
- ST002
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Cancer Institute and Hospital, Chinese Academy of Medical Sciences
LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa)
Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations
The purpose of this study is: to evaluate the safety of oral QLT091001 to evaluate whether 7-day treatment with oral QLT091001 can improve visual function in subjects with LCA or RP due to RPE65 or LRAT mutations to evaluate…
- Trial name
- NCT01014052
- Testing
- QLT091001
- Where
- 7 sites in United States, Canada and 3 more
- Volunteers
- 32 people
- Sponsor
- QLT Inc.
Duchenne Muscular Dystrophy
Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)
The objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or…
- Trial name
- NCT01247207
- Testing
- Ataluren
- Where
- 34 sites in United States, Canada
- Volunteers
- 265 people
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
Orkambi Treatment in 2 to 5 Year Old Children With CF
The purpose of this observational research study is to determine the effects of clinically prescribed Orkambi treatment on 2 to 5 year old children homozygous for the F508del Mutations in the Cystic fibrosis transmembrane…
- Trial name
- NCT03795363
- Testing
- Orkambi
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Children's Hospital of Philadelphia
Chronic Hepatitis B
Adding Adefovir Dipivoxil Versus Switching to Entecavir in Patients With Lamivudine-resistant Chronic Hepatitis B
Antiviral resistance mutations limit the efficacy of therapy for chronic hepatitis B. At year 2, resistance to adefovir may occur as high as 25% in patients with history of lamivudine resistance.
- Trial name
- NCT00531167
- Testing
- combination of lamivudine+adefovir vs entecavir
- Where
- 2 sites in South Korea
- Volunteers
- 219 people
- Sponsor
- Korea University
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, Homozygous or Heterozygous for the F508del-CFTR Mutation
A Phase 3 Rollover Study of Lumacaftor in Combination With Ivacaftor in Subjects 12 Years and Older With Cystic Fibrosis
The purpose of this study is to evaluate the efficacy and safety of long-term treatment with lumacaftor in combination with ivacaftor in people 12 years and older with Cystic Fibrosis.
- Trial name
- NCT01931839
- Testing
- Lumacaftor Plus Ivacaftor Combination, Ivacaftor
- Where
- 166 sites in United States, Australia and 13 more
- Volunteers
- 1,164 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Mitochondrial Myopathies, Mitochondrial DNA Mutation
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine
This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks.
- Conditions
- Mitochondrial Myopathies, Mitochondrial DNA Mutation, Mitochondrial Diseases, Chronic Progressive External Ophthalmoplegia With Myopathy
- Trial name
- NCT05012358
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
Breast Cancer, Ductal Carcinoma
Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
The goal of this research study is to evaluate the efficacy and safety of low-dose exemestane versus low-dose tamoxifen in post-menopausal women at high risk for breast cancer.
- Conditions
- Breast Cancer, Ductal Carcinoma, Estrogen-receptor-positive Breast Cancer, Atypical Lobular Hyperplasia
- Trial name
- BabyTEARS (NCT07499999)
- Testing
- Exemestane, Tamoxifen
- Where
- 2 sites in United States
- Volunteers
- 140 people
- Sponsor
- Dana-Farber Cancer Institute
Mucopolysaccharidosis Disorders, Hurler Syndrome
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based…
- Conditions
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome
- Trial name
- NCT02171104
- Testing
- Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen
- Where
- United States
- Volunteers
- 149 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Muscular Dystrophy, Duchenne
Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations
Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of Duchenne muscular dystrophy (DMD), affecting both survival and time of loss of functional milestones.
- Trial name
- NCT05833633
- Testing
- MUSCLE MAGNETIC RESONANCE IMAGING (MRI)
- Where
- Italy
- Volunteers
- 17 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
AML, Childhood, Relapse/Recurrence
Safety and Efficacy of Avapritinib in Relapsed or Refractory Pediatric CBF-AML With KIT Mutation
The purpose of this study is to evaluate the efficacy and safety of avapritinib in relapsed or refractory pediatric core binding factor acute myeloid leukemia with KIT mutation.
- Conditions
- AML, Childhood, Relapse/Recurrence, Refractory AML, Core Binding Factor Acute Myeloid Leukemia
- Trial name
- NCT06316960
- Testing
- Avapritinib, Azacitidine Injection, Decitabine Injection
- Where
- 12 sites in China
- Volunteers
- 50 people
- Sponsor
- Children's Hospital of Soochow University
Retinoblastoma Bilateral, Retinoblastoma Unilateral
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene.
- Conditions
- Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent
- Trial name
- NCT06725173
- Testing
- Targeted Long-read sequencing
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Washington
Sensorineural Hearing Loss, Enlarged Vestibular Aqueduct
Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA
To explore the genotype-phenotype correlation of SLC26A4 mutations in cochlear-implanted patients with enlarged vestibular aqueduct.
- Trial name
- NCT04934605
- Testing
- Cochlear implantation
- Volunteers
- 60 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Cystic Fibrosis, Homozygous for the F508del CFTR Mutation
A Study of Lumacaftor in Combination With Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older Who Are Homozygous for the F508del-CFTR Mutation
The primary objective of the study was to evaluate the efficacy of lumacaftor in combination with ivacaftor at Week 24 in participants aged 12 years and older with cystic fibrosis (CF) who are homozygous for the F508del mutation…
- Trial name
- TRAFFIC (NCT01807923)
- Testing
- Lumacaftor Plus Ivacaftor Combination, Ivacaftor
- Where
- 89 sites in United States, Australia and 9 more
- Volunteers
- 559 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission
Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
This phase II trial studies how well fludarabine phosphate, cyclophosphamide, total body irradiation, and donor stem cell transplant work in treating patients with blood cancer.
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
- Trial name
- NCT03333486
- Testing
- Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Roswell Park Cancer Institute
Residual or Recurrent Grade 2 IDH Mutant Glioma
Phase 3 Study of Vorasidenib (S095032/AG-881) in Asian Participants With Residual or Recurrent Grade 2 Glioma With an IDH1 orIDH2 Mutation
The objective of this study is to determine the efficacy, safety, and pharmacokinetics of vorasidenib in Asian participants with residual or recurrent Grade 2 glioma with an IDH1 or IDH2 mutation.
- Trial name
- NCT06780930
- Testing
- Vorasidenib
- Where
- 8 sites in China, Taiwan
- Volunteers
- 57 people
- Sponsor
- Servier
Cystic Fibrosis
Miglustat in Cystic Fibrosis
Single Center, Double-Blind, Randomized, Placebo-Controlled, Two-Period/Two-Treatment Crossover Study Investigating the Effect of Miglustat on the Nasal Potential Difference in Patients With Cystic Fibrosis Homozygous for the…
- Trial name
- NCT00742092
- Testing
- miglustat
- Where
- Belgium
- Volunteers
- 11 people
- Sponsor
- Actelion
Cystic Fibrosis
Ivacaftor Treatment in 4 Month to 2 Year Old CF Subjects
The purpose of this research study is to determine the effects of clinically prescribed ivacaftor treatment on 4-24 month old children with CF and gating mutations on sleeping energy expenditure, growth status and gut health and…
- Trial name
- NCT03783286
- Testing
- Ivacaftor
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Children's Hospital of Philadelphia