Method of treatment of Shwachman-diamond syndrome
The invention relates to compounds for the treatment of ribosomopathies. In particular, it refers to compounds for the treatment of Shwachman-Diamond Syndrome (SDS) and other ribosomopathies, such as Diamond-Blackfan Anemia (DBA), X-linked dyskeratosiscongenita (DKC) and Treacher Collins syndrome (TCS).
1. A method for the treatment of Shwachman-Diamond Syndrome (SDS) in a subject in need thereof comprising administering to the subject a therapeutically effective amount of ataluren, having the formula:
2. A method for the treatment of SDS, wherein the method comprises administering a pharmaceutical composition comprising ataluren according to claim 1 and a pharmaceutically acceptable carrier to a subject in need thereof.
3. The method of claim 1 , wherein the treatment of SDS with ataluren restores SBDS protein expression in Lymphoblastoid Cell Lines (LCLs) and bone marrow stem cells derived from a subject in need thereof, where the subject is an SDS patient.
4. The method of claim 1 , wherein the treatment of SDS with ataluren inhibits mTOR phosphorylation in SDS LCLs and bone marrow mesenchymal stem cells (MSCs) derived from a subject in need thereof, where the subject is an SDS patient.
5. The method of claim 1 , wherein the therapeutically effective amount of ataluren is selected from a range of from about 5 mg to about 500 mg per day or a range of from about 10 mg to about 200 mg per day, wherein the amount is given as a single dose or as divided doses.
6. The method of claim 1 , wherein the therapeutically effective amount of ataluren is initiated at a lower dose in a range of from about 1 mg to about 25 mg per day, then increased up to a range of from about 200 mg to about 2000 mg per day, wherein the amount is given as a single dose or as divided doses.
7. The method of claim 2 , wherein the pharmaceutical composition comprises an amount of ataluren in a range from about 0.1 mg to about 2000 mg per day, wherein the dose is given as a single once-a-day dose or as divided doses throughout the day.
8. The method of claim 5 , wherein the single dose is given in the morning.
9. The method of claim 6 , wherein the single dose is given in the morning.
10. The method of claim 7 , wherein the single dose is given in the morning.
11. The method of claim 5 , wherein the divided doses are each taken with food.
12. The method of claim 6 , wherein the divided doses are each taken with food.
13. The method of claim 7 , wherein the divided doses are each taken with food.