‘Treatment access improved for Lysosomal Storage Diseases'

"Early treatment is important in treating rare diseases"

New drugs for Fabry disease, Gaucher disease, Pompe disease, etc. have been introduced...but patients are left on a ‘diagnostic odyssey’

Newborn screening will be reimbursed starting this year...allowing lysosomal abnormalities to be identified

"The accessible enzyme replacement therapy should be started early on to prevent symptoms"

Dr.

 

Jong-Hee Chae, professor of Clinical Genomic Medicine at Seoul National University Hospital

"Lysosomal storage diseases show various symptoms throughout the body, making it difficult to diagnose the disease based on clinical manifestation alone.

 

Therefore, it is important to diagnose it early and prevent the progression of symptoms with enzyme replacement therapy." On September 19, Sanofi held a press conference at the Lotte Hotel in Jung-gu, Seoul, to celebrate the reimbursement expansion of newborn screening tests for lysosomal storage disease, a rare inherited disorder.

 

Experts at the conference emphasized the importance of early detection of lysosomal storage diseases.

 

Lysosomal storage diseases (LSD) are genetically caused deficiencies in certain enzymes that lead to metabolic abnormalities.

 

Lysosomes, which are organelles within cells, contain enzymes that break down substances that the body no longer needs.

 

When these enzymes become abnormal or are not produced, substances that should be broken down gradually accumulate in the cell.

 

Typical lysosomal accumulation diseases include ▲Pompe disease (motor dysfunction), ▲mucopolysaccharidosis (recurrent otitis media, hernia, or spinal deformity), ▲Gaucher disease (visceral enlargement, hematologic abnormalities), and ▲Fabry disease (peripheral pain).

 

Dr.

 

Jong-Hee Chae, professor of Clinical Genomic Medicine at Seoul National University Hospital, said, “Lysosomal storage diseases progress progressively from childhood and cause irreversible damage to the body.

 

Early diagnosis and enzyme replacement therapy can prevent the development of symptoms before damage occurs." Currently, treatments for Pompe, mucopolysaccharidosis, Gaucher, and Fabry diseases are available, but accurate diagnosis remains difficult.

 

16.4% of patients suffer through a diagnostic odyssey, visiting four or more hospitals before receiving a final diagnosis.

 

It took more than 10 years for 6.1% of these patients to receive the right diagnosis after recognizing their symptoms.

 

This is why experts welcomed the reimbursement expansion that allows newborn screening tests to identify some lysosomal storage diseases starting this year.

 

On January 1, the government included 6 enzyme assays for lysosomal storage diseases (GALC, GBA, GLA, GAA, IDUA, and ASM) to the reimbursement list.

 

Beginning this year, newborns born within 28 days of birth can be screened to identify abnormalities in lysosomal enzymes at an early stage.

 

This will allow newborns with lysosomal enzyme abnormalities to be screened at an early stage, allowing patients with these findings to go to a medical institution and receive accurate diagnosis and discuss treatment options.

 

Dr.

 

Jung Ho Lee, Professor of Pediatrics at Soonchun Hyang University Seoul Hospital, said, “Due to low awareness of the disease, patients had limitations in gathering information about lysosomal storage diseases.

 

In line with the reimbursement expansion that covers newborn screening, we need to raise public awareness of each disease.” Dr.

 

Lee added, “We should promptly conduct newborn screening to identify and treat patients with diseases for which treatments have been developed." Dr.

 

Chae added, "New treatments have emerged for various lysosomal storage diseases, and advances in medical technology are increasing the number of patients who can be treated upon diagnosis.

 

Early treatment after the detection of symptoms can help maintain normal growth and prevent symptoms from occurring, so we need to diagnose patients early and provide aggressive treatment.