Clinical trials: Mutations
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
Pediatric Central Nervous System Tumor, Central Nervous System Tumor
Somatic Mosaicism in Twins Discordant for Childhood Cancer
Somatic mosaicism in cancer associated genes is one potential explanation for discordance in childhood cancer that has not been fully explored to date.
- Conditions
- Pediatric Central Nervous System Tumor, Central Nervous System Tumor, Discordant Twin, Somatic Mutation
- Trial name
- NCT06054295
- Testing
- Biospecimen collection, Questionnaire Administration
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Children's Oncology Group
Atopic Dermatitis, Eczema
Investigation of Filaggrin Gene Mutations Among Latinx Patients With Atopic Dermatitis
The study, Investigation of Filaggrin Gene Mutations among Latinx patients with Atopic Dermatitis, will examine the association between pathogenic FLG LOF variants and AD in a new population of Latinx patients for which clinical…
- Trial name
- NCT06464133
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- University of Pennsylvania
Growth Disorders
Growth Hormone in a Patient With a Dominant-Negative GHR Mutation
This is a prospective interventional study designed for a single patient with a dominant-negative mutation in the growth hormone receptor gene (GHR) which results in increased levels of growth hormone binding protein (GHBP).
- Trial name
- NCT05382637
- Testing
- Somatropin
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Children's National Research Institute
Duchenne Muscular Dystrophy
Study of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy
This is a Phase 2, multiple-dose, open-label study evaluating the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of ataluren in participants aged ≥2 to <5 years old with Duchenne muscular dystrophy (DMD) caused by a…
- Trial name
- NCT02819557
- Testing
- Ataluren
- Where
- 6 sites in United States
- Volunteers
- 14 people
- Sponsor
- PTC Therapeutics
Duchenne Muscular Dystrophy
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren
This study is designed to generate additional data on the effect of ataluren for producing dystrophin protein in nonsense mutation nmDMD participants.
- Trial name
- NCT03796637
- Testing
- Ataluren
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- PTC Therapeutics
Langerhans Cell Histiocytosis
A Combination of Vemurafenib, Cytarabine and 2-chlorodeoxyadenosine in Children With LCH and BRAF V600E Mutation
Langerhans cell histiocytosis (LCH) is a disease caused by clonal expansion, proliferation, and dissemination of cells that are phenotypically close to Langerhans cells in different tissues and organs.
- Trial name
- NCT03585686
- Testing
- Vemurafenib, Cytarabine, 2-chlorodeoxyadenosine
- Where
- Russia
- Volunteers
- 12 people
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Breast Neoplasms
Sweden Cancerome Analysis Network - Breast : Genomic Profiling of Breast Cancer
This study evaluates the genomic profiles of breast cancer in a prospective and population-based manner. In the first phase, breast tumors are analyzed by whole transcriptome RNA-sequencing.
- Trial name
- SCAN-B (NCT02306096)
- Where
- 10 sites in Sweden
- Volunteers
- 20,000 people
- Sponsor
- Lund University
Retinitis Pigmentosa
Identifying Genes and Mutations Underlying Retinitis Pigmentosa and Allied Diseases
Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1:3500. It is one of the most genetically heterogenous conditions in humans, with over 100 causative genes and…
- Trial name
- NCT02309866
- Testing
- Genetic testing
- Volunteers
- 100 people
- Sponsor
- Hillel Yaffe Medical Center
Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae.
- Conditions
- Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder, RCDP - Rhizomelic Chondrodysplasia Punctata, D-Bifunctional Protein Deficiency
- Trial name
- NCT01668186
- Where
- Canada
- Volunteers
- 244 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
X-Linked Retinitis Pigmentosa
A Study Comparing Two Doses of AGTC-501 in Male Participants With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (DAWN)
This Phase 2 study is a non-randomized, open-label, study of the safety of AGTC-501 in participants with XLRP who have previously been treated with a full-length AAV vector-based gene therapy targeting RPGR protein.
- Trial name
- NCT06275620
- Testing
- AGTC-501 (high dose and standard corticosteroid regimen), AGTC-501 (low dose and standard corticosteroid regimen), AGTC-501 (high dose and modified corticosteroid regimen)
- Where
- 7 sites in United States
- Volunteers
- 24 people
- Sponsor
- Beacon Therapeutics
BRCA Mutation, Ovarian Cancer
Prediction of Germline BRCA 1/2 Genes From Healthy Ovaries
The project aims at enhancing performance metrics and prospectively validating a radiogenomics model based on ovarian US images for predicting germline breast cancer susceptibility gene 1 and/or 2 (BRCA) status in women with…
- Conditions
- BRCA Mutation, Ovarian Cancer, Ultrasound Therapy; Complications
- Trial name
- PROBE-II (NCT05769517)
- Testing
- Germinal BRCA
- Where
- Italy
- Volunteers
- 6,465 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Cystic Fibrosis
Study Evaluating the Long-term Safety and Efficacy of VX-445 Combination Therapy
This study evaluated the long-term safety, efficacy, and pharmacodynamics of elexacaftor (ELX, VX-445) in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are…
- Trial name
- NCT04058366
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 84 sites in United States, Australia and 10 more
- Volunteers
- 251 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
A Study of the Effects of Lumacaftor/Ivacaftor (LUM/IVA) on Exercise Tolerance in Subjects With Cystic Fibrosis (CF), Homozygous for the F508del-CFTR Mutation
This is a Phase 4, randomized, double-blind, placebo-controlled, parallel-group study in subjects aged 12 years and older with CF who are homozygous for the F508del-CFTR mutation.
- Trial name
- NCT02875366
- Testing
- LUM/IVA
- Where
- 12 sites in Australia, United Kingdom
- Volunteers
- 70 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
X-linked Myotubular Myopathy
Myotubular Myopathy Event Study
X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential for optimum muscle function.
- Trial name
- MTMES (NCT01840657)
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Cure CMD
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
Methylmalonic Acidemia
Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia
The SUNRISE trial is a first-in-human (FIH), open-label, Phase 1/2 clinical trial designed to assess the safety, tolerability and preliminary efficacy of a single intravenous infusion of hLB-001 in pediatric patients with MMA…
- Trial name
- SUNRISE (NCT04581785)
- Testing
- hLB-001
- Where
- 4 sites in United States
- Volunteers
- 4 people
- Sponsor
- LogicBio Therapeutics, Inc
Core Binding Factor Acute Myeloid Leukemia, KIT Mutation-Related Tumors
Avapritinib in CBF-AML With KIT Mutations
AML with t(8; 21)(q22; q22) or inv(16)(p13; q22)/t(16; 16)(p13; q22) is known as CBF-AML. KIT mutations are common in CBF-AML, which have a worse prognosis.This study is aimed to evaluate the efficacy of Avapritinib, an highly…
- Trial name
- NCT05821738
- Testing
- Avapritinib
- Where
- China
- Volunteers
- 50 people
- Sponsor
- The First Affiliated Hospital of Soochow University
Cystic Fibrosis
G551D Observational Study- Expanded to Additional Genotypes and Extended for Long Therm Follow up (GOAL-e2)
The goal of this research study is to collect blood and urine samples from people who have either the R117H type of CF or the non-G551D gating type of CF to be kept for future research.We will also use some of the collected blood…
- Trial name
- GOAL- e2 (NCT01521338)
- Where
- 36 sites in United States
- Volunteers
- 120 people
- Sponsor
- Steven M Rowe
Primary Mitochondrial Diseases
A First in Human Study to Evaluate the Safety of Infusion of MNV-BM-PLC (Autologous CD34+ Cells Enriched With Placenta Derived Allogeneic Mitochondria) in Patients With Primary Mitochondrial Diseases Associated With Mitochondrial DNA Mutation or Deletion
The study objectives are to evaluate the safety of a single intravenous (IV) infusion of autologous CD34+ cells enriched with placenta-derived allogeneic mitochondria in participant with primary mitochondrial disease associated…
- Trial name
- NCT04548843
- Testing
- Bone Marrow mobilization, Apheresis, MNV-BM-PLC infusion
- Where
- Israel
- Sponsor
- Minovia Therapeutics Ltd.