IP Library Granted Patent US 12,458,629
Granted Patent B2
US 12,458,629 · App. 17/602,576 · Granted Nov 4, 2025

Method for treating nonsense mutation mediated duchenne muscular dystrophy in pediatric patients

Inventors: Ronald Kong (River Edge, NJ); Joseph William McIntosh (Wyckoff, NJ)
Assignee: PTC THERAPEUTICS, INC.
A61K31/4245A61P21/00
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Quick Facts
Patent No.
US 12,458,629
App. No.
17/602,576
Granted
Nov 4, 2025
Kind
B2
Abstract

Provided herein is a method for ameliorating or managing nonsense mutation mediated Duchenne muscular dystrophy (nmDMD) in a pediatric patient in need thereof comprising, administering an effective amount of ataluren to the patient.

Claims (10)

1 . A method for ameliorating or managing nonsense mutation mediated Duchenne muscular dystrophy (nmDMD) in a human pediatric patient having nmDMD comprising, orally administering to a patient having an age in a range between greater than or equal to six months of age and an age less than two years of age a therapeutically effective amount of ataluren, or a pharmaceutically acceptable salt thereof, based on patient weight to attain an average plasma concentration of the ataluren or pharmaceutically acceptable salt thereof in the patient in a range of at least about 1 μg/mL to about 20 μg/mL during a 24 hour time period; wherein the therapeutically effective amount of the ataluren or pharmaceutically acceptable salt thereof is: (a) 40 mg/kg/day administered as a morning dose of 10 mg/kg, a midday dose of 10 mg/kg, and, an evening dose of 20 mg/kg, or (a) 80 mg/kg/day administered as a morning dose of 20 mg/kg, a midday dose of 20 mg/kg, and, an evening dose of 40 mg/kg.

2 . The method of claim 1 , wherein the therapeutically effective amount of the ataluren or pharmaceutically acceptable salt thereof is 40 mg/kg/day based on patient weight; and, wherein the average patient plasma concentration of the ataluren or pharmaceutically acceptable salt thereof attained in the patient is in a range of at least about 1 μg/mL to about 20 μg/mL during a 24 hour time period.

3 . The method of claim 2 , wherein the therapeutically effective amount of 40 mg/kg/day is administered as a morning dose of 10 mg/kg, a midday dose of 10 mg/kg, and, an evening dose of 20 mg/kg; wherein the time period between the morning and midday dose is 6 hours; wherein the time period between the midday and evening dose is 6 hours; and, wherein the time period between the evening dose and the following morning dose is 12 hours.

4 . The method of claim 1 , wherein the therapeutically effective amount of the ataluren or pharmaceutically acceptable salt thereof is 80 mg/kg/day of based on patient weight; and, wherein the average patient plasma concentration of the ataluren or pharmaceutically acceptable salt thereof attained in the patient is in a range of at least about 1 μg/mL to about 20 μg/mL during a 24 hour time period.

5 . The method of claim 4 , wherein the therapeutically effective amount of 80 mg/kg/day is administered as a morning dose of 20 mg/kg, a midday dose of 20 mg/kg, and, an evening dose of 40 mg/kg; wherein the time period between the morning and midday dose is 6 hours; wherein the time period between the midday and evening dose is 6 hours; and, wherein the time period between the evening dose and the following morning dose is 12 hours.

6 . The method of claim 3 , wherein each of the doses are administered within thirty minutes of a meal.

7 . The method of claim 5 , wherein each of the doses are administered within thirty minutes of a meal.

8 . The method of claim 1 , wherein the ataluren or pharmaceutically acceptable salt thereof is administered as a free acid of ataluren.

9 . The method of claim 1 , wherein the ataluren or pharmaceutically acceptable salt thereof is administered as a pharmaceutically acceptable salt of ataluren.

10 . The method of claim 9 , wherein the pharmaceutically acceptable salt is selected from L-arginine, L-histidine, L-lysine, N-methyl glucamine, magnesium methoxide, potassium hydroxide, sodium hydroxide or tromethamine.

Assignments (3)
TERMINATION AND RELEASE OF PATENT SECURITY AGREEMENT @ REEL 061803 AND FRAME 0878 Recorded Oct 20, 2023
From: WILMINGTON TRUST, NATIONAL ASSOCIATION, AS ADMINISTRATIVE AGENT
To: PTC THERAPEUTICS, INC.
Reel/Frame 065303/0163 →
SECURITY INTEREST Recorded Oct 28, 2022
From: PTC THERAPEUTICS, INC.
To: WILMINGTON TRUST, NATIONAL ASSOCIATION
Reel/Frame 061803/0878 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Mar 22, 2022
From: KONG, RONALD; MCINTOSH, JOSEPH WILLIAM
To: PTC THERAPEUTICS, INC.
Reel/Frame 059343/0640 →
Continuity (2)
Provisional Application 62831931 · Apr 10, 2019
Related Publication 20220175739A1 · Jun 9, 2022
References Cited (27)
US 9289398B2 · Almstead et al. · 2016 [cited by applicant]
US 20140221458A1 · De Kimpe et al. · 2014 [cited by applicant]
US 20160194630A1 · Krainer et al. · 2016 [cited by applicant]
US 20190022167A1 · Wilson et al. · 2019 [cited by applicant]
JP A2008535846 · 2008 [cited by applicant]
JP A2010506840 · 2010 [cited by applicant]
WO WO2006110483 · 2006 [cited by applicant]
WO WO2008045566 · 2008 [cited by applicant]
WO WO2015134711A1 · 2015 [cited by examiner]
Finkel et al (PLOS One, Dec. 2013, vol. 8, Issue 12, e81302, pp. 1-10) (Year: 2013). [cited by examiner]
Massourides et al (Skeletal Muscle (2015) 5:40) (Year: 2015). [cited by examiner]
Peltz et al (Annu Rev Med. 2013; 64: 407-425) (Year: 2013). [cited by examiner]
Finkel et al., 2013, “Phase 2a Study of Ataluren-Mediated Dystroph in Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy.” PLoS One, 8(12):e81302 (Published online on Dec. 11, 2013). [cited by applicant]
International Search Reportdated Jul. 1, 2020 in file history of PCT Application No. PCT/US2020/027382 (Publication No. WO 2020/210432) filed Apr. 9, 2020 (2 pages). [cited by applicant]
Written Opinion dated Jul. 1, 2020 in file history of PCT Application No. PCT/US2020/027382 (Publication No. WO 2020/210432) filed Apr. 9, 2020 (2 pages). [cited by applicant]
EMEA (European Medicines Agency), “Annex I Summary of product characteristics”, Online: https://web.archive.org/web/20190320060942if_/https://www.ema.europa.eu/en/documents/product-information/translarna-epar-product-in… [cited by applicant]
“Translarna (ataluren), EPAR-Medicine Overview”, European Medicines Agency, Online: https://www.ema.europa.eu/en/documents/overview/translarna-epar-medicine-overview_en.pdf (Aug. 31, 2018). [cited by applicant]
“Translarna (ataluren), Translarna-H-C-2720-II-0037: EPAR-Assessment report-Variation”, European Medicines Agency, Online: https://www.ema.europa.eu/en/documents/variation-report/translarna-h-c-2720-ii-0037-epar-assessm… [cited by applicant]
“Translama (ataluren), Translarna-H-C-2720-II-0049: EPAR-Assessment Report-Variation”, European Medicines Agency, Online: https://www.ema.europa.eu/en/documents/variation-report/translarna-h-c-2720-ii-0049-epar-assessme… [cited by applicant]
Lu, Hong et al., “Developmental Pharmacokinetis in Pediatric Populations,” J Pediatr Pharmacol Ther (2014) 19(4):262-276. [cited by applicant]
Massourides, Emmanuelle et al., “Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells,” Skeletal Muscle (2015) 5:40, 18 pages. [cited by applicant]
Armstrong, Niki et al., “The Early Care (0-3 Years) in Duchenne Muscular Dystrophy Meeting Report,” [cited by applicant]
Landfeldt, Erik et al., “A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy,” [cited by applicant]
Li, Shan et al., “Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development,” [cited by applicant]
Merlini, Luciano et al., “Improving Clinical Trial Design for Duchenne Muscular Dystrophy,” [cited by applicant]
Strassburg, C. P. et al., “Developmental Aspects of Human Hepatic Drug Glucuronidation in Young Children and Adults,” [cited by applicant]
Extended Search Report mailed Jan. 20, 2025 for European Patent Application No. 24207847.5. [cited by applicant]