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Tackling the challenges of lysosomal storage diseases diagnosis and treatment

A disease is defined as ’rare’ when it affects fewer than 1 in 2 000 people,1 and there are currently more than 7 000 known rare diseases (lysosomal storage diseases), affecting more than 300 million people worldwide.1,2 Most (70-80%) of lysosomal storage diseases are genetic and inherited, while some may be acquired, and 70% are exclusively paediatric in onset.2

Patients with lysosomal storage diseases present unique challenges to healthcare professionals (HCPs), including diagnostic delays and a lack of information, expertise, and treatment options for many lysosomal storage diseases. Appropriate referrals to specialists, timely diagnosis and treatment, coordinated cross-functional care, and assisting patients in obtaining the proper support are vital roles for HCPs in enhancing quality of life for lysosomal storage disease patients and their families.3,4

 

Monique Nel, Medical Advisor – Rare Diseases at Sanofi, says: “We understand that HCPs may face difficulties when it comes to the diagnosis of a lysosomal storage disease, and that a coordinated approach to diagnosis and care for people living with lysosomal storage diseases is needed. Lysosomal storage diseases deserve the same amount of time, resources and dedication to finding effective treatments and therapies as any other condition. This is a mission that Sanofi strives to uphold every day, to help HCPs to improve diagnosis, especially as we are starting to see more patients diagnosed with lysosomal storage diseases in both the public and private sectors.”

“Sanofi is focused on education around innovative treatment and research efforts that improve real-world outcomes, investing in education and research to better manage and understand these conditions, and identifying areas requiring more attention,” says Nel.

 

In the 10 years of its existence, patient advocacy group, Rare Diseases SA, has made great strides in advocacy for lysosomal storage disease patients. Founder and CEO, Kelly du Plessis, says: “We need to acknowledge that local doctors and healthcare practitioners may have limited knowledge and experience of lysosomal storage diseases. What we would like to see is that they are upskilled on the following three aspects: knowing that lysosomal storage diseases exist, knowing the impact that these have on the patient, and knowing where to refer a patient who they think may have a rare condition. If we can tick these three boxes, great strides will have been made for the diagnostic odyssey that patients with lysosomal storage diseases go through.”

Says du Plessis: “Most importantly, we need a lysosomal storage disease policy to be recognised and enforced in SA, and we need National Treasury to assign a budget to treat these patients so that once an official diagnosis is made, they can receive immediate care. There is also a need for mechanisms to escalate product registration where there are no existing products or alternatives available for lysosomal storage disease patients.”

 

Partnerships with various stakeholders are paramount in terms of bringing innovative medicines and access to treatment to lysosomal storage disease patients. Says Nel: “For more than 40 years, Sanofi has been a pioneer in science and innovation, rallying its people and resources to help improve the lives of those living with lysosomal storage diseases. Through its commitment to faster diagnoses, innovative treatments, sustainable access and integrated support along the patient journey, Sanofi strives to enable more fulfilling futures.”

Sanofi also has a Rare Humanitarian Programme, which has been running for 32 years and provides humanitarian support to people living with lysosomal storage diseases. Says Nel: “This is an integral part of Sanofi’s mission to develop sustainable healthcare systems, increase access, and improve standards of care for lysosomal storage diseases worldwide. Over 1,000 people in over 70 countries are currently receiving access to free therapy.6

 A useful resource for HCPs and patients is the list of lysosomal storage diseases maintained by the Genetic and Rare Diseases Information Center (GARD) of the US National Institutes of Health.7           

References available on request