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Results for “Nonsense Mutation”

52 trials

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Showing 20 of 52 results

Large-scale testing (Phase 3)Ended earlyNCT02456103
What this trial is testing

Extension Study of Ataluren in Participants With Nonsense Mutation Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
PTC Therapeutics 246
Testing effectiveness (Phase 2)Study completedNCT02698735
What this trial is testing

Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients

Who this might be right for
Recessive Dystrophic Epidermolysis Bullosa
University of Southern California 5
Testing effectiveness (Phase 2)Study completedNCT02647359
What this trial is testing

Study of Ataluren in Participants With Nonsense Mutation Aniridia

Who this might be right for
Aniridia
PTC Therapeutics 39
Not applicableStudy completedNCT04174469
What this trial is testing

Ivermectin Neurotoxicity and ABCB1 Gene Mutations

Who this might be right for
DNA Sequencing
University Hospital, Montpellier 3
Post-approval studies (Phase 4)UnknownNCT02354560
What this trial is testing

Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version

Who this might be right for
FAP-Familial Adenomatous Polyposis
michal roll 15
Large-scale testing (Phase 3)Ended earlyNCT02107859
What this trial is testing

Study of Ataluren (PTC124) in Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
PTC Therapeutics 61
Early research (Phase 1)Ended earlyNCT02807961
What this trial is testing

Safety, Tolerability, Pharmacokinetics of ELX-02 in Healthy Adult Volunteers

Who this might be right for
Genetic DiseasesNonsense Mutations
Eloxx Pharmaceuticals, Inc. 42
Testing effectiveness (Phase 2)Study completedNCT00458341
What this trial is testing

Ataluren in Pediatric Participants With Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
PTC Therapeutics 30
Testing effectiveness (Phase 2)Ended earlyNCT01009294
What this trial is testing

Study of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)

Who this might be right for
Duchenne Muscular DystrophyBecker Muscular Dystrophy
PTC Therapeutics 6
Post-approval studies (Phase 4)UnknownNCT04454151
What this trial is testing

Azithromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis

Who this might be right for
Familial Adenomatous Polyposis
Tel-Aviv Sourasky Medical Center 10
Large-scale testing (Phase 3)Study completedNCT01557400
What this trial is testing

Study of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada

Who this might be right for
Duchenne Muscular DystrophyBecker Muscular DystrophyDystrophinopathy
PTC Therapeutics 94
Testing effectiveness (Phase 2)Study completedNCT00237380
What this trial is testing

Safety and Efficacy of Ataluren (PTC124) for Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
PTC Therapeutics 24
Testing effectiveness (Phase 2)Study completedNCT02758626
What this trial is testing

Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome

Who this might be right for
Epilepsy
NYU Langone Health 15
Testing effectiveness (Phase 2)Study completedNCT00351078
What this trial is testing

PTC124 for the Treatment of Cystic Fibrosis

Who this might be right for
Cystic Fibrosis
PTC Therapeutics 19
Testing effectiveness (Phase 2)Ended earlyNCT04069260
What this trial is testing

ELX-02 in Patients With Nephropathic Cystinosis

Who this might be right for
Genetic DiseaseNonsense MutationCystinosis
Eloxx Pharmaceuticals, Inc. 3
Large-scale testing (Phase 3)Ended earlyNCT02090959
What this trial is testing

An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy

Who this might be right for
Muscular Dystrophy, DuchenneMuscular DystrophiesMuscular Disorders, Atrophic+6 more
PTC Therapeutics 219
Large-scale testing (Phase 3)Study completedNCT01826487
What this trial is testing

Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

Who this might be right for
Muscular Dystrophy, DuchenneMuscular DystrophiesMuscular Disorders, Atrophic+6 more
PTC Therapeutics 230
Large-scale testing (Phase 3)Study completedNCT03179631
What this trial is testing

Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

Who this might be right for
Muscular Dystrophy, DuchenneMuscular DystrophiesMuscular Disorders, Atrophic+6 more
PTC Therapeutics 360
Testing effectiveness (Phase 2)Study completedNCT04126473
What this trial is testing

Evaluate the Safety, Tolerability, PK and PD in Cystic Fibrosis Patients With at Least 1 G542X Allele

Who this might be right for
Cystic Fibrosis
Eloxx Pharmaceuticals, Inc. 17
Testing effectiveness (Phase 2)UnknownNCT03492866
What this trial is testing

Efficacy of Topical Gentamycin for Hereditary Hypotrichosis Simplex Caused by Nonsense Mutations in CDSN

Who this might be right for
Hereditary Hypotrichosis Simplex
Tel-Aviv Sourasky Medical Center 8
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