Description:
Reference #: 01317
The University of South Carolina is offering licensing opportunities for Pharmabiotic Approaches to Treat Phenylalanine Hydroxylase Deficiency
Background:
Approximately 1 in 15,000 persons in the US have phenylalanine hydroxylase deficiency. It is stated in the American College of Medical Genetics clinical practice guidelines for the treatment of the disorder that any intervention intended to lower blood phenylalanine levels should be considered appropriate therapy for this disease state.
Current treatment strategies for phenylalanine hydroxylase deficiency include tetrahydrobiopterin supplementation and dietary restriction of phenylalanine, along with the consumption of medical foods (i.g. PhenylAde) without phenylalanine. Gene therapy for phenylalanine hydroxylase deficiency has been largely unsuccessful.
Lactobacillus helveticus is a non-pathogenic, gram-positive bacterial strain that is generally recognized as safe and formulated into currently marketed probiotics. L. helveticus is presumed to be a natural colonizer of the human gut microbiome.
Invention Description:
The invention is a modified strain of the L. helveticus bacteria that is naturally found in dairy products. When ingested and following colonization of the gastrointestinal tract, the modified bacteria will break down the amino acid responsible for the symptoms of phenylalanine hydroxylase deficiency, formerly known as phenylketonuria.
Potential Applications:
The modified L. helveticus will be formulated into a pharmabiotic for the treatment of phenylalanine hydroxylase deficiency. Once administered to the patient, the bacteria will colonize the GI tract and process dietary phenylalanine, ameliorating the absence of the host’s endogenous phenylalanine hydroxylase.
Advantages and Benefits:
There are currently no known cures for phenylalanine hydroxylase deficiency. This treatment will improve the quality of life for patients by allowing more leniency in an otherwise strict and expensive dietary regimen. It is anticipated that it will help maintain stable blood phenylalanine levels and mitigate or potentially prevent symptoms such as psychosocial abnormalities, seizure activity, and eczema which are derivative of supraphysiologic plasma levels of phenylalanine.