# US 11,298,348 B2 · Combination treatment of sarcoglycanopathies

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- Number: US 11,298,348 B2
- Document ID: US11298348B2
- Status: Granted
- Kind: B2
- Application number: 16/960,503
- Filed: 2019-01-10
- Published: 2021-03-04
- Granted: 2022-04-12
- Earliest claimed: 2018-01-11
- Assignees: Inserm (Institut National De La Sante Et De La Recherche Medicale); Universite D'Evry Val D'Essonne; Genethon; Universita' Degli Studi Di Padova
- Applicants: Inserm (Institut National De La Sante Et De La Recherche Medicale); Universite D'Evry-Val-D'Essonne; Genethon; Universita 'Degli Studi Di Padova
- Inventors: Isabelle Richard; Dorianna Sandona
- Web page: https://patentgrep.com/patent/US11298348B2

## CPC

- A61K 31/47: Quinolines; Isoquinolines
- A61K 31/427: not condensed and containing further heterocyclic rings
- A61P 21/00: Drugs for disorders of the muscular or neuromuscular system
- A61K: PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES (devices or methods specially adapted for bringing pharmaceutical products into particular physical or administering forms A61J3/00; chemical aspects of, or use of materials for deodorisation of air, for disinfection or sterilisation, or for bandages, dressings, absorbent pads or surgical articles A61L; soap compositions C11D)
- A61P: SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS

## Abstract

Sarcoglycanopathies are autosomal recessive diseases caused by mutations in the one of the genes coding for any sarcoglycans (SG). The inventors previously showed that the application of small molecules developed to rescue ΔF508-CFTR trafficking, and known as CFTR correctors, improved the maturation of several α-sarcoglycan mutants that were consequently rescued at the plasma membrane (WO 014086687). Now, the inventors show that some specific CFTR correctors provide additive and even synergic effect when administered in combination.

## Claims

### Claim 1

A method of treating a sarcoglycanopathy in a patient in need thereof comprising administering to the patient a therapeutically effective combination of N-(2-(5-chloro-2-methoxyphenylamino)-4′-methyl-4,5′-bithiazol-2′-yl)pivalamide (C17) and a further compound that is selected from the group consisting of N-[2-(5-Chloro-2-methoxy-phenylamino)-4′-methyl-[4,5′]bithiazolyl-2′-yl]-benzamide (C4), 4,5,7-trimethyl-N-phenylquinolin-2-amine (C5), N-(4-bromophenyl)-4-methylquinolin-2-amine (C6) and N-(2-(3-acetylphenylamino)-4′-methyl-4,5′-bithiazol-2′-yl)benzamide (C13).

### Claim 2 (depends on 1)

The method of claim 1 wherein the sarcoglycanopathy is selected from the group consisting of Limb Girdle Muscular Dystrophy type 2D (LGMD-2D), LGMD-2E, LGMD-2C or LGMD-2F.

### Claim 3 (depends on 1)

The method of claim 1 wherein the sarcoglycanopathy is LGMD-2D.

### Claim 4 (depends on 3)

The method of claim 3 wherein the sarcoglycanopathy is LGMD-2D caused by a c. 229C>T/p.R77C mutation.