There have been numerous advancements in the Phenylketonuria pipeline recently. Being a rare genetic-metabolic disease, PKU has no cure at present. However, recent drug profiles, including clinical and non-clinical stage products being discovered and tested at a rapid pace on a global scale offer a promising future for a possible cure. The Phenylketonuria therapeutics assessment is often conducted by type of curative solution being used, stage, route of administration, and molecule type and so on.
Phenylketonuria causes and symptoms
Babies born with PKU are often unable to metabolise or break down Phenylalanine (Phe), an amino acid found in all protein-containing foods, including chicken, meat, eggs, dairy, nuts, grains, and legumes. This is because of a defective gene that makes the enzyme phenylalanine hydroxylase (PAH). Phenylketonuria symptoms include a musty odour in the breath, skin or urine, seizures and skin rashes among others. If left untreated, Phe levels may surge, resulting in serious neurological and neuropsychological complications, affecting the way a person thinks, feels, and acts.
There are two types of treatment for Phenylketonuria: diet therapy or medication, with diet being the preferred first-line treatment option. This lifelong condition is controlled primarily by eating a very restrictive, low-protein diet.
Let’s have a look at what’s the latest in phenylketonuria treatment:
- Potential therapeutic drug solutions have been developed by top-notch Pharma companies around the world such as Synlogic, Homology Medicines, PTC therapeutics, Rubius Therapeutics, NestlÃ, BioMarin, SOM Biotech, Evox Therapeutics, Moderna Therapeutics, Orpharma, Generation Bio, Erydel, Janana therapeutics, American gene technologies, Applied Pharma Research to improve the healthcare outcomes of PKU treatment.
- Futuristic technologies applied at the gene level have opened new avenues for phenylketonuria treatment. Some of the gene-therapy based solutions include target-specific gene therapies, including creating other vectors to deliver therapeutic genes, like lentiviruses and lipid nanoparticles, as well as possibly fixing PAH mutations with gene-editing tools such as CRISPR.
- A critical new factor in regulating phenylalanine metabolism has been discovered by researchers at The University of Texas MD Anderson Cancer Center. This could be crucial in preventing PKU- an inherited metabolic disorder. According to the research, the long noncoding RNA – highly upregulated in liver cancer or (lncRNA) HULCdirectly regulates the metabolic enzyme phenylalanine hydroxylase (PAH) in normal individuals. Whereas applying synthetic mimics of HULC restored PAH activity and lowered phenylalanine levels.
- USF Health Genetics and Metabolism and Tampa General Hospital (TGH) have teamed up to deliver investigational gene therapies. An open-label clinical trial testing the safety and effectiveness of an adenovirus vector-mediated gene therapy for PKU is going on in full swing. This will provide PKU patients with slightly more flexibility in their diet.
Prevailing treatment is predominantly through dietary restriction of Phe to the minimum required for basic nutrition, supplemented with specifically designed medical foods. Seeking a second opinion on the confirmation of diagnosis or treatment plan is important for reassurance and peace of mind. SeekMed offers you easy access to the best nutritionist who can provide the correct dietary chart to ease phenylketonuria causes and symptoms. It is also possible to manage symptoms, optimise treatment and explore further treatment options for those who simply have unanswered questions by searching for a dietitian near me.
Since it is a rare, autosomal recessive metabolic disorder progressing to a lifelong condition, it is wise to seek a second opinion with the obstetrician and gynaecologist. The best gynaecologist is an accomplished medical professional, who can provide comprehensive prenatal genetic testing options. Consult an obstetrician and gynaecologist having over 25 years of experience, who is capable of assessing what risks could affect your pregnancy based on your age, medical history, and other factors, and discuss testing options that are relevant to you. The right kind of nutrition also matters during pregnancy; an e-consultation with the best nutritionist at SeekMed can help you improve your health and your baby’s health too. For those undergoing PKU treatment searching for a ‘dietitian near me’ can help you explore all possible treatment options and develop a plan that’s tailored to your needs.
