Clinical Trials

Numerous clinical trials spanning Phase 1 through Phase 4 evaluate the therapeutic potential of ataluren across nonsense mutation-driven genetic disorders and malignancies, including Duchenne muscular dystrophy, cystic fibrosis, drug-resistant epilepsy, colorectal cancer, and endometrial carcinoma. Sponsored by pharmaceutical companies like PTC Therapeutics, academic institutions such as NYU Langone Health, and specialized disease foundations, these protocols encompass completed, actively recruiting, terminated, and withdrawn studies.

NCT Number Recruitment Conditions Sponsor/Collaborators Start Date Phases
NCT01247207 COMPLETED
Duchenne Muscular Dystrophy
PTC Therapeutics
 2010-11-30 PHASE3
NCT04336826 COMPLETED
Nonsene Mutation Duchenne Muscular Dystrophy
PTC Therapeutics
 2021-12-29 PHASE2
NCT04014530 RECRUITING
Colorectal Cancer; Endometrium Cancer
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
 2019-08-01 PHASE1; PHASE2
NCT03179631 COMPLETED
Muscular Dystrophy, Duchenne; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Disease; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn
PTC Therapeutics
 2017-07-06 PHASE3
NCT04336826 Completed
Nonsene Mutation Duchenne Muscular Dystrophy
PTC Therapeutics
 2021-12-29 Phase 2
NCT02758626 COMPLETED
Epilepsy
NYU Langone Health
 2016-11 PHASE2
NCT04117880 WITHDRAWN
Aniridia
PTC Therapeutics
 2018-12-31 PHASE2
NCT02647359 COMPLETED
Aniridia
PTC Therapeutics
 2016-01-31 PHASE2
NCT03648827 COMPLETED
Duchenne Muscular Dystrophy
PTC Therapeutics
 2018-12-21 PHASE2
NCT04014530 Recruiting
Colorectal Cancer|Endometrium Cancer
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)|Merck Sharp & Dohme LLC|PTC Therapeutics
 2019-08-01 Phase 1|Phase 2
NCT03796637 COMPLETED
Duchenne Muscular Dystrophy
PTC Therapeutics
 2019-04-11 PHASE2
NCT03256968 COMPLETED
Cystic Fibrosis
University of Alabama at Birmingham
 2017-01-27 PHASE4
NCT02090959 TERMINATED
Muscular Dystrophy, Duchenne; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn
PTC Therapeutics
 2014-03-20 PHASE3
NCT02819557 COMPLETED
Duchenne Muscular Dystrophy
PTC Therapeutics
 2016-06-09 PHASE2
NCT01557400 COMPLETED
Duchenne Muscular Dystrophy; Becker Muscular Dystrophy; Dystrophinopathy
PTC Therapeutics
 2012-05-20 PHASE3
NCT03256799 COMPLETED
Cystic Fibrosis
University of Alabama at Birmingham
 2017-03-17 PHASE4
NCT02107859 TERMINATED
Cystic Fibrosis
PTC Therapeutics
 2014-05-23 PHASE3
NCT02456103 TERMINATED
Cystic Fibrosis
PTC Therapeutics
 2015-08-31 PHASE3
NCT02139306 COMPLETED
Cystic Fibrosis
PTC Therapeutics
 2014-08 PHASE3
NCT02758626 Completed
Epilepsy
NYU Langone Health|PTC Therapeutics
 2016-11 Phase 2
NCT02819557 Completed
Duchenne Muscular Dystrophy
PTC Therapeutics
 2016-06-09 Phase 2
NCT01826487 COMPLETED
Muscular Dystrophy, Duchenne; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn
PTC Therapeutics
 2013-03-26 PHASE3
NCT02409004 COMPLETED
Healthy
PTC Therapeutics
 2015-02 PHASE1
NCT02090959 Terminated
Muscular Dystrophy Duchenne|Muscular Dystrophies|Muscular Disorders Atrophic|Muscular Diseases|Musculoskeletal Diseases|Neuromuscular Diseases|Nervous System Diseases|Genetic Diseases X-Linked|Genetic Diseases Inborn
PTC Therapeutics
 2014-03-20 Phase 3
NCT01140451 COMPLETED
Cystic Fibrosis
PTC Therapeutics
 2010-08-12 PHASE3
NCT00803205 COMPLETED
Cystic Fibrosis
PTC Therapeutics
 2009-09-08 PHASE3
NCT01141075 TERMINATED
Amino Acid Metabolism, Inborn Errors
PTC Therapeutics
 2010-07-19 PHASE2
NCT00947193 TERMINATED
Hemophilia A; Hemophilia B
PTC Therapeutics
 2009-10-14 PHASE2
NCT01140451 Completed
Cystic Fibrosis
PTC Therapeutics|Cystic Fibrosis Foundation
 2010-08-12 Phase 3
NCT00847379 TERMINATED
Duchenne Muscular Dystrophy; Becker Muscular Dystrophy
PTC Therapeutics
 2009-01-31 PHASE2
NCT00759876 TERMINATED
Duchenne Muscular Dystrophy
PTC Therapeutics
 2008-08-13 PHASE2
NCT01009294 TERMINATED
Duchenne Muscular Dystrophy; Becker Muscular Dystrophy
PTC Therapeutics
 2010-01-13 PHASE2
NCT00592553 COMPLETED
Duchenne Muscular Dystrophy; Becker Muscular Dystrophy
PTC Therapeutics
 2008-02-29 PHASE2
NCT00458341 COMPLETED
Cystic Fibrosis
PTC Therapeutics
 2007-03-23 PHASE2
NCT00351078 COMPLETED
Cystic Fibrosis
PTC Therapeutics
 2006-12 PHASE2
NCT00264888 COMPLETED
Duchenne Muscular Dystrophy
PTC Therapeutics
 2005-12 PHASE2
NCT00234663 COMPLETED
Cystic Fibrosis
PTC Therapeutics
 2005-09 PHASE2
NCT00237380 COMPLETED
Cystic Fibrosis
PTC Therapeutics
 2005-11-30 PHASE2

(data from https://clinicaltrials.gov, updated on 2026-03-09)

Check the Ataluren (PTC124) product page for in-depth specifications, including solubility, stock solutions, MOA, and working concentrations.

Compliance for Clinical Use

Mechanism and Biochemical Profile

Ataluren binds selectively to the ribosome to promote read-through of premature termination codons without suppressing normal stop codons, thereby enabling translation machinery to bypass nonsense mutations and insert an amino acid. This restores full-length, functional protein synthesis in cells harboring premature stop codons, offering therapeutic relevance for patients with genetic diseases such as nonsense mutation Duchenne muscular dystrophy and cystic fibrosis.

Appendix RUO and cGMP Quality Standards

Quality Dimension RUO (Research Use Only) cGMP (Current Good Manufacturing Practice)
Clinical Applicability Prohibited in human clinical trials or medical diagnostics. Mandatory for human clinical trials (Phase I–III) and therapies.
Regulatory Status Non-regulated grade; exempt from drug manufacturing laws. Legally enforced by health authorities (e.g., FDA, EMA, NMPA).
Facility Environment Unclassified analytical or research laboratories. Validated Cleanrooms (ISO Class 5–8) with continuous monitoring.
Quality Control Basic purity and activity testing. Rigorous safety release testing (Sterility, Endotoxin, Mycoplasma).
Process Validation Basic equipment calibration; no process validation required. Full qualification (IQ/OQ/PQ) and complete batch records.
Quality Assurance Vendor self-declared without required formal QMS. Mandatory QA/QC unit, Change Control, CAPA, and vendor audits.
Regulatory Impact High risk of IND rejection if used as a critical raw material. Required for IND/NDA filings, supported by Drug Master Files (DMF).

Footnotes

Regulatory Note: Governed by FDA (21 CFR Parts 210/211/312), EMA (EudraLex Vol 4), ICH Guidelines (E6/Q7/Q9/Q10), and compendial standards (USP <71>/<85>/<1043>).

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Note: Technical data last updated: Sep 1, 2026.