Neuropediatrics 2019; 50(S 02): S1-S55
DOI: 10.1055/s-0039-1698256
Poster Presentations
Poster Area GNP Neuromuscular Diseases/Varia 2
Georg Thieme Verlag KG Stuttgart · New York

Ataluren in Patients Aged  2 to < 5 Years with Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD): 28-week Results from a Phase 2 Study

Christian Werner
1   PTC Therapeutics Germany GmbH, Frankfurt, Germany
,
Cuixia Tian
2   University of Cincinnati Children’s Hospital, Division of Neurology, Cincinnati, Ohio, United States
,
Robert Kong
3   PTC Therapeutics, Inc., Clinical Pharmacology, South Plainfield, New Jersey, United States
,
Edward O’Mara
4   PTC Therapeutics, Inc., Clinical Affairs, South Plainfield, New Jersey, United States
,
Traci Schilling
4   PTC Therapeutics, Inc., Clinical Affairs, South Plainfield, New Jersey, United States
,
Panayiota Trifillis
5   PTC Therapeutics, Inc., Medical Affairs, South Plainfield, New Jersey, United States
,
Joseph McIntosh
4   PTC Therapeutics, Inc., Clinical Affairs, South Plainfield, New Jersey, United States
,
J. Ben Renfroe
6   Child Neurology Center of Northwest Florida, Child Neurology Center of Northwest Florida, Gulf Breeze, Florida, United States
› Author Affiliations
Further Information

Publication History

Publication Date:
11 September 2019 (online)

 
 

    Introduction: Nonsense mutation Duchenne muscular dystrophy (nmDMD) is a rare X-linked disorder that results in a progressive decline in muscle function and early death. Ataluren is conditionally approved by the EMA for use in ambulant nmDMD patients ≥ 2 years. Initiation of ataluren for dystrophin restoration at a younger age may maximize therapeutic benefit.

    Objective: Evaluate safety and pharmacokinetics of ataluren in male nmDMD patients ≥2 to <5 years.

    Methods: This was an observational, open-label Phase 2 study that evaluated the safety and pharmacokinetics of ataluren (10, 10, and 20 mg/kg) in male nmDMD patients ≥2 to <5 years (n = 14). Changes in TFTs and the 3- and 8-part NSAA were assessed.

    Results: Half of patients reported an adverse event, all were unrelated to ataluren. Improvements were noted in TFTs, and NSAA scores.

    Conclusions: The safety profile in this younger population of patients with nmDMD was similar to the known safety profile of ataluren.


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    No conflict of interest has been declared by the author(s).