PTC124
Encyclopedia
Ataluren, formerly known as PTC124, is a novel small-molecular agent designed to make ribosome
s become less sensitive to, or possibly ignore premature stop codon
s. This may be particularly beneficial in genetic disorders where the mRNA contains a mutation causing premature stop codon
or nonsense codon. However, it is not equally effective with every stop codon, working best on the sequence 'UGA'.
PTC124 has been tested on healthy humans and humans carrying genetic disorder
s caused by nonsense mutations, such as some people with cystic fibrosis
and Duchenne muscular dystrophy
. Clinical trials are proceeding for several genetic disorders, in the subset of affected people who have nonsense mutations (typically <10% of those with the disorder). PTC Therapeutics released preliminary results of its phase 2b clinical trial for Duchenne muscular dystrophy
, with participants not showing a significant improvement in the six minute walk distance after the 48 weeks of the trial.. However, phase 2 clinical trials were successful for cystic fibrosis in Israel, France and Belgium . Multicountry phase 3 clinical trials are currently in progress for cystic fibrosis in Europe and the USA.
PTC124 has been developed by PTC Therapeutics
.
Ribosome
A ribosome is a component of cells that assembles the twenty specific amino acid molecules to form the particular protein molecule determined by the nucleotide sequence of an RNA molecule....
s become less sensitive to, or possibly ignore premature stop codon
Stop codon
In the genetic code, a stop codon is a nucleotide triplet within messenger RNA that signals a termination of translation. Proteins are based on polypeptides, which are unique sequences of amino acids. Most codons in messenger RNA correspond to the addition of an amino acid to a growing polypeptide...
s. This may be particularly beneficial in genetic disorders where the mRNA contains a mutation causing premature stop codon
Stop codon
In the genetic code, a stop codon is a nucleotide triplet within messenger RNA that signals a termination of translation. Proteins are based on polypeptides, which are unique sequences of amino acids. Most codons in messenger RNA correspond to the addition of an amino acid to a growing polypeptide...
or nonsense codon. However, it is not equally effective with every stop codon, working best on the sequence 'UGA'.
PTC124 has been tested on healthy humans and humans carrying genetic disorder
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
s caused by nonsense mutations, such as some people with cystic fibrosis
Cystic fibrosis
Cystic fibrosis is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine...
and Duchenne muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. The incidence is 1 in 3,000 boys. Females and males are affected, though females are rarely affected and are more often carriers...
. Clinical trials are proceeding for several genetic disorders, in the subset of affected people who have nonsense mutations (typically <10% of those with the disorder). PTC Therapeutics released preliminary results of its phase 2b clinical trial for Duchenne muscular dystrophy
Duchenne muscular dystrophy
Duchenne muscular dystrophy is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. The incidence is 1 in 3,000 boys. Females and males are affected, though females are rarely affected and are more often carriers...
, with participants not showing a significant improvement in the six minute walk distance after the 48 weeks of the trial.. However, phase 2 clinical trials were successful for cystic fibrosis in Israel, France and Belgium . Multicountry phase 3 clinical trials are currently in progress for cystic fibrosis in Europe and the USA.
PTC124 has been developed by PTC Therapeutics
PTC Therapeutics
PTC Therapeutics is a pharmaceutical company. It is headquartered in South Plainfield, New Jersey.They are the company responsible for the development of PTC124....
.
See also
- BiostrophinBiostrophinBiostrophin is a drug which may serve as a vehicle for gene therapy, in the treatment of Duchenne and Becker muscular dystrophy.As mutations in the gene which codes for the protein dystrophin is the underlying defect responsible for both...
, another drug against Duchenne muscular dystrophy - IvacaftorIvacaftorIvacaftor is an experimental drug candidate for the treatment of cystic fibrosis, currently under development by Vertex Pharmaceuticals and the Cystic Fibrosis Foundation. The drug is designed to be effective in patients that have the G551D mutation in the defective protein that causes the disease...
and VX-809, other drugs against cystic fibrosis in development by Vertex Pharmaceuticals