Researchers reported that enzyme replacement therapy, substrate reduction therapy, and gene therapy have transformed the treatment landscape for lysosomal storage diseases, according to an editorial article published in Medicina Clinica.

Lysosomal storage diseases are a group of about 70 disorders, which includes lysosomal acid lipase deficiency (LAL-D) and Pompe disease. It was previously discovered that dietary modification could modify the course of the disease, raising expectations for patients affected by lysosomal storage disorders. Today, a number of therapies have been made available to counter this group of diseases. 

There are 4 main strategies that clinicians can pursue when treating rare diseases: stabilize, improve, reverse, and establish preventive measures according to the natural course of the disease, the authors said.

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Enzyme replacement therapy was designed to degrade the toxic substances in lysosomal storage diseases. The relative success of this form of treatment has reduced the need for bone marrow transplants. However, it is expensive and noncurative, meaning that it has to be administered for life. In addition, some patients do not respond to this form of therapy. 

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Substrate reduction therapy is an alternative to enzyme replacement therapy. Unlike enzyme replacement therapy, substrate reduction therapy drugs such as miglustat can cross the blood-brain barrier. Substrate reduction therapy is used as first-line medication in Gaucher disease type 1, a lysosomal storage disorder. 

Gene therapy is another form of therapy that has been the subject of intense research. There are generally 2 approaches to gene therapy: in vivo, which involves cloning the repaired gene in a viral vector and then introducing it into the patient, and in vitro, which involves cloning the desired gene with the viral vector and introducing it into the hematopoietic stem cells of the patient. 

“The advances obtained in [gene therapy] come hand in hand with the possibility of modifying genes by means of gene editing nucleases and the possibility of using viruses that effectively transport the genetic material to target tissues without causing damage or serious side effects,” the authors said.


Torralba Cabeza MÁ, Aznárez Nogueras S. Approach to lysosomal diseasesMed Clin (Barc). 2022;158(11):547-549. doi:10.1016/j.medcli.2022.02.001