As of now, according to several medical reports, there are no specific cure or medication for gba1 associated diseases. However, several researches and tests reveal that patients suffering from such ailments can get some respite from the symptoms by restoring dopamine.
Typically, health providers conduct ERT or Enzyme Replacement Therapy and SRT or Substrate Reduction Therapy. These treatment processes may stop the progression of the disease but cannot cure it entirely.
Utility of Treatments for GBA1 Associated Diseases
The utility of the two treatment processes, ERT and SRT, for gba1 associated diseases is minimal. There are different reasons behind it.
For example, Enzyme Replacement Therapy fails to cross the Blood Brain barrier, often referred to as BBB in medical science. As of now, attempts are made to cross this barrier by inducing disruption in it using ultrasound through MRI to enhance the delivery of rejoining GCase enzymes. However, this involves only a minor phase.
As for the utility of SRT in gba1 associated diseases, it is pretty dubious. This is mainly due to the uncertainty in the accumulation and relevance of the lipid substrate from the clinical perspective in the heterozygote GBA1 patients.
Still, in spite of such unreliable relevance, venglustat, a BBB-penetrant Substrate Reduction Therapy, was used in phase 2. However, it was stopped due to worsening motor symptoms though there was a reduction in the level of glucosylceramide in the Cerebral Spinal Fluid or CSF and plasma.
Ongoing research and Allosteric Drug Discovery USA, however, focus on the prospects of treatment and medication of GBA 1 Associated diseases. Several researchers are now concentrating on developing smaller molecule chaperones that may help augment the protein folding of GCase enzymes.
The researchers believe that it will be able to cross the BBB and therefore stabilize these enzymes. This will further promote transferring them to the lysosome from the endoplasmic reticulum.
However, there is a concern over the inhibitory chaperones due to their inhibition of the activity of the enzymes.
Another significant hindrance of it is that the effects of the clinical tests on different patients suffering from GBA1-related diseases are pretty hard to interpret. Therefore, some more studies at a more extensive level are required to evaluate both the cognitive and motor symptoms in GBA1 patients.
As for the non-inhibitory variant of the GCase modulators, these can restore the activities of the GCase enzymes. LTI-29, an allosteric GCase modulator, can cross the Blood Brain Barrier, but its efficacy is not yet proven.
The More Recent Approaches
Though GBA1 diseases are uncurable, just like the prion disease treatment USA, researchers are on the lookout for a more efficient and potent therapeutic approach. This approach involves transcriptional modulation of ASO or Antisense Oligonucleotide treatments.
These specific treatments have a notable effect on different neurological and monogenetic disorders. This is because the ASOs can degrade unsolicited transcripts. They can even improve the translation of designated mRNAs.
Therefore, personalized ASO therapies are considered the likely therapeutic strategy in the future to treat GBA1-related diseases.
A lot of efforts are currently made to discover a medicine for GBA1 diseases. Check out at https://perspectives.gaintherapeutics.com/ about the progress.