Clinical trials: Mutations
Ciliary Motility Disorders, Primary Ciliary Dyskinesia
Nasal Nitric Oxide Across Mutations in Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with recurrent infections of the airways, laterality defects (Situs inversus totalis in about 50% of cases) and…
- Trial name
- nNO_PCD (NCT04949308)
- Where
- Germany
- Volunteers
- 2,000 people
- Sponsor
- University Hospital Muenster
Charcot-Marie-Tooth Disease Type 2D
Personalized Antisense Oligonucleotide for A Single Participant With GARS1 Gene Mutation Associated With Charcot-Marie-Tooth Disease Type 2D (CMT2D)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Charcot-Marie-Tooth disease type 2D (CMT2D) due to a pathogenic, de novo deletion mutation in…
- Trial name
- NCT07226297
- Testing
- nL-GARS1-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Autism
Neurophysiological Molecular and Developmental Analysis of the Glutamate Synapse in Autism
Neurophysiological, Molecular and Developmental Analysis of the glutamate synapse in Autism
- Trial name
- NMDA-Autism (NCT01770548)
- Testing
- analysis of the glutamate synapse in autism, DNA collection, Auditory evoked potentials
- Where
- 4 sites in France
- Volunteers
- 497 people, healthy volunteers welcome
- Sponsor
- University Hospital, Tours
Wolfram Syndrome
Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome
Open label, phase II study non randomized single group assignment of 20 evaluable patients 13 years and older, over 37,5 kg body-weight, with sensorineural hearing loss of at least 20 dB at 8 kHz in high frequency average (HFA)…
- Trial name
- AUDIOWOLF (NCT04940572)
- Testing
- Depakine
- Where
- 2 sites in France, Spain
- Volunteers
- 23 people
- Sponsor
- Centre d'Etude des Cellules Souches
Chronic Pancreatitis, Genetic Mutation
Genetic Factors and CP Pregnancy Outcomes
To explore the impact of chronic pancreatitis (CP) susceptibility genes on pregnancy outcomes.
- Conditions
- Chronic Pancreatitis, Genetic Mutation, Pregnancy Related
- Trial name
- NCT06055595
- Testing
- genetic sequencing
- Where
- China
- Volunteers
- 160 people
- Sponsor
- Changhai Hospital
Atunomic Neuropathy
Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy
This project comprises three sets of physiological studies - testing eight specific hypotheses - that will contribute new knowledge on proprioception and motor control in a genetic disorder that affects specific components of the…
- Trial name
- NCT02876939
- Testing
- kinesiology tape around the hip, knee and ankle joints, No kinesiology tape around the hip, knee and ankle joints
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- NYU Langone Health
Cystic Fibrosis
Organoid Study R334W
In contrary to what is seen in FRT cells, rectal organoids of patients with a R334W mutation do respond to CFTR modulators ivacaftor and lumacaftor.
- Trial name
- NCT04254705
- Testing
- Rectal Biopsy
- Where
- 12 sites in Belgium, France and 3 more
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Gardner Syndrome, Colorectal Carcinoma
A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome
The purpose of this study is to assess the long-term outcome in a cohort of Gardner-Syndrome patients receiving prophylaxis and treatment for intestinal and non-intestinal tumors.
- Conditions
- Gardner Syndrome, Colorectal Carcinoma, Desmoid Tumor
- Trial name
- NCT01286662
- Volunteers
- 105 people
- Sponsor
- Triemli Hospital
Gene Mutation-Related Cancer, Esophageal Cancer
Genomic Study of Relapse Esophageal Cancer After Radiotherapy
Radiotherapy plays an important role in multidisciplinary treatment of esophageal cancer. However, about half patients received radiotherapy occurred relapse. Once relapse occurred, there is no better treatment strategy.
- Conditions
- Gene Mutation-Related Cancer, Esophageal Cancer, Radiation Exposure
- Trial name
- NCT04694391
- Testing
- whole exome sequence
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Fudan University
Carcinoma, Non-Small-Cell Lung
Long-term Observation PMS for Afatinib
In Japan, post-approval execution of post marketing surveillance (PMS) is requested by the Japanese Pharmaceutical Affairs Law (J-PAL) in order to accumulate safety and efficacy data for reexamination.
- Trial name
- NCT02131259
- Testing
- Afatinib dimaleate
- Where
- 432 sites in Japan
- Volunteers
- 1,605 people
- Sponsor
- Boehringer Ingelheim
Neuroaxonal Dystrophy, Atypical
Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations
Mutations in the PLA2G6 gene are well known in the classical phenotype called infantile neuro-axonal dystrophy (INAD), a severe neurodegenerative disease starting in infancy with homogeneous clinical, radiological…
- Trial name
- ATYPICPLA2G6 (NCT05440994)
- Where
- 7 sites in France
- Volunteers
- 20 people
- Sponsor
- University Hospital, Clermont-Ferrand
Breast Cancer
A Study to Learn About the Safety of TALZENNA for the Treatment of Breast Cancer
The purpose of this study is to learn about the safety of TALZENNA for the patients with breast cancer that cannot be removed by surgery and has come back.
- Trial name
- NCT06735742
- Where
- Japan
- Volunteers
- 3 people
- Sponsor
- Pfizer
Congenital Diaphragmatic Hernia
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly.
- Trial name
- NCT01098929
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Aniridia
A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia
This is a Phase 2, multicenter, open-label study evaluating the overall systemic and ocular safety profile of ataluren in nonsense mutation aniridia as determined by the incidences of treatment-emergent adverse events (TEAEs) as…
- Trial name
- NCT04117880
- Testing
- Ataluren
- Sponsor
- PTC Therapeutics
Helicobacter Pylori Infection, Helicobacter Pylori Associated Gastrointestinal Disease
Prevalence and Trends of Antimicrobial Resistance of Helicobacter Pylori in Korea
To assess antimicrobial resistance rates and minimal inhibitory concentrations in H. pylori isolated from patients with upper gastrointestinal disease with long-term period.
- Conditions
- Helicobacter Pylori Infection, Helicobacter Pylori Associated Gastrointestinal Disease, Helicobacter Pylori Infection, Susceptibility to, Helicobacter Pylori 23S rRNA Clarithromycin Resistance Mutation
- Trial name
- NCT05247112
- Where
- South Korea
- Volunteers
- 2,000 people
- Sponsor
- Seoul National University Bundang Hospital
Muscular Dystrophy, Duchenne, DMD
The Expanded Access Use of Viltolarsen in Duchenne Muscular Dystrophy With Confirmed Exon 53 Amenable Mutation
This is an open label expanded access program for boys, 3 to 12 years old, for the treatment of Duchenne muscular dystrophy (DMD) with confirmed mutation(s) in the dystrophin gene that is amenable to skipping of exon 53.
- Trial name
- NCT04337112
- Testing
- viltolarsen
- Sponsor
- NS Pharma, Inc.
Day-3 Positive of Parasitaemia, Prevalence of Drug Resistance Gene Mutation
Molecular Assessment of Artemisinin Resistance Markers in Eastern and Western Border Areas of Myanmar
Artemisinin resistance have been documented in Myanmar and Myanmar artemisinin resistance containment measures have been launched since 2009-2010.
- Trial name
- NCT02198573
- Where
- Burma
- Volunteers
- 91 people
- Sponsor
- Myat Htut Nyunt
Cystic Fibrosis
A Rollover Safety Study of Lumacaftor/Ivacaftor in Subjects Aged 2 Years and Older With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation
A Rollover Safety Study of Lumacaftor/Ivacaftor in Subjects Aged 2 Years and Older With Cystic Fibrosis, Homozygous for F508del.
- Trial name
- NCT03125395
- Testing
- LUM/IVA
- Where
- 20 sites in United States, Canada
- Volunteers
- 57 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Retinal Disorder
Safety and Efficacy of Zuretinol Acetate in Subjects With Inherited Retinal Disease
To evaluate the efficacy of ZA oral solution in subjects with IRD caused by biallelic recessive RPE65 or LRAT gene mutations and phenotypically diagnosed as Leber's Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP).
- Trial name
- NCT04311112
- Testing
- ZA Low dose, ZA high dose
- Where
- United States
- Sponsor
- Retinagenix Holdings
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