Enzyme therapy for lysosomal storage diseases has evolved recently; however, current enzyme therapies have limitations.
One of the most considerable challenges the medical world will face in the next few decades is addressing the question of how we continue providing equitable treatment to all patients, regardless of income or status, as populations continue to grow and the purse strings for health care expenditure become tighter. Already we are seeing a…
The belief driving drug repurposing is that the current drugs that we do have may yet possess therapeutic aspects we aren’t fully aware of.
The parental burden of care of children with rare diseases is considerable and deserves due attention and support.
Scientists have proposed pharmacological chaperone therapy to complement enzyme replacement therapy in treating Pompe disease.
GAA genetic variations can impact the phenotype and prognosis of Pompe disease in different individuals with the disease.
Gene therapy represents the next horizon in the therapeutic landscape of the subtypes of Pompe disease.
Muscular resistance training and respiratory muscle training have both been found to be useful in treating patients with Pompe disease.
There are a number of tools at a clinician‘s disposal for the purpose of diagnosing Pompe disease, including chest MRI.