First in Africa: Diagnostic testing for six rare diseases can now be performed in SA

Diagnostic testing for six rare diseases can now be performed in South Africa!


Johannesburg, South Africa – Sanofi Genzyme, in collaboration with the Centre for Human Metabolomics (CHM), which is affiliated to North-West University, has launched a ground-breaking initiative that will allow for enzyme assay analysis for lysosomal storage disorders (LSDs), to be performed in South Africa for the first time with a quick 2-week turnaround time.

LSDs comprise approximately 50 genetic disorders, which have a combined prevalence of 1 in 7,000 to 1 in 8,000 live births1. These conditions are caused mainly by mutations in genes encoding enzymes that are involved in the lysosomal degradation of intermediate metabolites. The progressive accumulation of these metabolic products may cause tissue and organ dysfunction and premature death2,3.

Sanofi Medical Head, Dr Alicia McMaster says diagnosing the diseases is often challenging as the age of onset and rate of progression of the clinical signs and symptoms are variable, and these conditions often masquerade as other diseases leading to frequent misdiagnoses that often last many years. Early diagnosis will enable early treatment and optimal patient outcomes.

Dr Rashem Mothilal, Head of Sanofi Genzyme says before the set-up of the local LSD testing facility, most of the specific diagnostic tests for LSDs were performed at either European or American based laboratories, which could take up to eight weeks to complete. 

“Having a local laboratory in South Africa will now significantly shorten diagnostic timelines. Furthermore, the expertise that Professor Chris Vorster and his team at CHM have gained through this local capacity-building initiative will build greater confidence in local testing for rare disorders and help improve the general awareness of lysosomal storage disorders,” he adds.

“Partnering with the laboratory made sense as it has more than 30 years’ experience in testing of rare diseases,” says Dr McMaster.

This local testing initiative commenced in 2017, with the focus on expanding the necessary infrastructure and expertise at CHM. Laboratory employees were trained at international laboratories in Europe and the USA where they learnt the technique of analysis for LSDs. Utilising and expanding the CHM platform resulted in the validation of important diagnostic methods (in collaboration with international laboratories).

“It was the vision of the Technology Innovation Agency (TIA) that the research of local universities be translated into commercial applications. This project is an example of the outflow of this strategy. Furthermore, over time, the project is looking to establish a local biobank with a view to accumulating data and identifying trends and new mutations in South Africa and the rest of the continent,” adds Professor Chris Vorster, Director of the Centre for Human Metabolomics.

Dr Marli Dercksen, Head Medical Scientist at CHM, says patients with rare diseases often have overlapping signs and symptoms which may be missed if only one condition is tested for at a time. For this reason, CHM will use a multiplex test which simultaneously tests for six commonly occurring LSDs with one sample. 

“The 6-Plex test should, therefore, improve the diagnostic accuracy and timelines allowing for earlier initiation of treatment in patients,” said Dr Dalene van der Walt, Principle Investigator of the Lysosomal Storage Disorder platform at CHM.

This diagnostic service will be available throughout South Africa, ensuring accessibility to everybody. Furthermore, Professor Vorster and his team will become a valuable resource for local doctors and the go-to experts to consult for diagnostic interpretation of the results and to get advice on additional testing, should it be required. 

Dr Helen Malherbe, Chair of Genetic Alliance South Africa anticipates that the enhanced diagnosis enabled through the initiative will contribute to improved empiric data generation. “This will assist in developing an accurate evaluation of the burden of disease contributed by these diseases – which is essential if the relevant services are to be made available to treat those affected.”

According to Kelly du Plessis, CEO of Rare Disease South Africa, the South African health sector focuses much of its attention on challenges relating to infectious diseases such as tuberculosis and HIV/AIDS, and rare diseases are sadly often neglected.

 “The World Health Organisation has however noted that rare and orphan diseases and the vulnerable patients and populations affected by them need to be prioritised. 

“Just because these diseases do not occur widely, does not mean we do not have to worry about them. If not diagnosed early enough, patients with rare diseases can consume considerable healthcare resources. A patient with Fabry disease, for example, can suffer severe cardiac, kidney and neurological complications, which may require costly kidney dialysis or cardiac and neurological interventions. Not only will early diagnosis and treatment prevent this trauma for patients, but it will also result in a much more beneficial and patient-centric assignment of scarce healthcare resources.

Dr Mothilal says that Sanofi Genzyme is committed to ensuring that people with rare diseases have easy access to the necessary diagnostic services and receive an accurate diagnosis as early as possible to ensure optimal health outcomes and the best possible quality of life. 

“More importantly, since these are usually genetically transmitted conditions, being able to diagnose an index patient allows for other family members to be tested and counselled. Often, when one patient is diagnosed, a whole family gets answers to perplexing health questions that have vexed family members for many years,” he concludes.

Sources: Sanofi Genzyme
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