Diagnostic Timeline for Lysosomal Storage Disorders like Fabry Disease Significantly Reduced in South Africa

The Problem

Lysosomal storage disorders (LSDs) affect approximately one out of every 7,000 people. There are around 50 different types of LSDs. These include Fabry disease, Batten disease, Gaucher disease, Cystinosis, and Schindler disease to name a few. They’re categorized by the fact that they involve enzyme deficiencies which cause a buildup of toxins in the body. This buildup can lead to organ dysfunction.

LSDs are especially difficult to diagnose because they vary so much in terms of symptoms, age of onset, as well as how fast they progress. They are often misdiagnosed as other diseases because they present similarly. Unfortunately, this leads to delayed treatment and worse patient outcomes.

The earlier these diseases are diagnosed correctly, the sooner patients can begin proper treatment and the better their outcomes are likely to be. Unfortunately, some countries do not have the ability to test for these conditions in their own country. Instead, they send samples to Europe or the United States where they are analyzed. Results take around 8 weeks to be sent back to the country of origin.

South Africa is one of these nations who relies on other countries for LSD testing. But thankfully, they have just announced that as a result of a new collaboration, they will be organizing their own platform to test for these diseases. The turn around time will be approximately 2 weeks.

The Solution

This initiative was made possible due to a new partnership between the Centre for Human Metabolomics (CHM) and Sanofi Genzyme. It’s been in progress since 2017. The first steps were ensuring the necessary infrastructure was in place and that there were individuals at CHM with the expertise required to run the enzyme assay analysis. To ensure this need was met, CHM employees trained at established labs in the United States and Europe.

It has been assured that this service will be accessible for all South African citizens. Additionally, there will be experts available to help with the interpretation of results as well as to provide advice on any additional necessary testing.

The test they will utilize is called a 6-Plex test which essentially means that it can test for six different types of LSDs at the same time. This type of test should significantly reduce diagnostic timelines for patients and improve the accuracy of their results.

Other Benefits

In addition to improving patient outcomes by providing them with a diagnosis sooner, this new initiative will have other benefits as well. For one, it will improve data on LSD diagnoses which will help researchers to understand the true burden of these diseases and ultimately lead to improved services. Researchers eventually hope to establish a biobank locally to help with the identification of trends in LSDs within South Africa. 

In addition, with improved accuracy in diagnosis for a singular patient, an entire family is likely to be provided with answers as LSDs are hereditary.

Ultimately, of course the most important benefit of this new testing capability in South Africa, is that it will improve diagnostic rates and treatment outcomes for patients.

You can read more about this new initiative here.


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