Gaucher disease, one of the most common lysosomal storage disorders, is a condition that affects the body's ability to break down certain fats.1a This October, the focus is on raising awareness and on the important strides made in early diagnosis and innovative treatments for Gaucher.2a
“Raising awareness about Gaucher helps to promote a better understanding of the disease,” says Monique Nel, Sanofi South Africa and Africa Medical Head, Pharma. “Sanofi is dedicated to improving patients' lives by ensuring access to early diagnostics and making treatment available for Gaucher disease, while also strengthening support systems through partnerships with various stakeholders. With continued efforts to improve diagnostic methods and treatment availability, we are working towards a future where patients affected by Gaucher disease can experience an improved quality of life, even while managing this chronic condition.”
Gaucher disease is caused by a lack of an enzyme called glucocerebrosidase, which leads to the build-up of certain fatty substances in vital organs like the liver, spleen, and bone marrow.3a
This buildup results in a range of symptoms that can significantly impact quality of life.3b These include:
Enlarged liver and spleen
Low levels of red blood cells
Low platelet counts
Skeletal abnormalities, such as bone pain, fractures, and joint issues that can potentially lead to irreversible bone damage in more severe forms of Gaucher disease
Neurological symptoms such as seizures, cognitive decline, and lack of coordination
Types of Gaucher Disease - Gaucher disease is classified into three types:3c
Type 1 (Non-neuronopathic): The most common form, it mainly affects the liver and spleen, with symptoms becoming apparent in childhood or adulthood. It does not involve the brain or nervous system.
Type 2 (Acute Neuronopathic): A severe form that affects infants, leading to rapid loss of brain function and typically resulting in early death.
Type 3 (Chronic Neuronopathic): A form that affects both the organs and the nervous system, usually developing in early childhood. Neurological symptoms, such as myoclonic seizures, ataxia (lack of coordination), and cognitive impairment, tend to progress more slowly than in Type 2.
Treatment advances and availability
“Each person living with a rare disease has different needs,” Nel says. “For over 30 years, Sanofi has been dedicated to supporting people with Gaucher disease. We’re proud to have introduced life-changing treatments for Gaucher and other rare diseases, and we remain committed to improving care and making a difference for those affected.”
There is no cure for Gaucher disease, but multiple effective therapies are available to manage symptoms and improve the quality of life for those affected.4a
Enzyme replacement therapy (ERT)
This is the standard treatment for Gaucher disease and involves regular infusions of a synthetic form of the deficient enzyme. ERT has been available since the 1990s and has transformed the management of Gaucher disease, particularly for Type 1 and certain cases of Type 3.4b
Substrate reduction therapy (SRT)
SRT uses small molecules to block the production of fatty substances that build up in cells due to Gaucher disease. SRT medications are safe and effective for treating adults with mild-to-moderate Gaucher disease who cannot use enzyme replacement therapy (ERT). SRT is available as an oral medication, providing a less invasive treatment option for some patients.4c,5a
Chaperone therapy
Chaperone therapy works by fixing faulty enzymes caused by mutations in the GBA gene, which leads to reduced enzyme function in Gaucher disease. This therapy helps stabilize and correct the shape of the enzymes, allowing them to function properly again. Along with lowering the build-up of harmful fatty substances, chaperone therapy can boost the enzyme's ability to break them down, leading to better results for patients.5b
Those experiencing bone pain are advised to work closely with their doctors to develop a complete pain management plan.4e Research into stem cell replacement, gene therapy, and genome editing is ongoing, aiming to find more permanent solutions for Gaucher disease. These therapies target the genetic mutations that cause the condition. Early clinical trials have shown encouraging results, giving hope that future treatments could potentially cure the disease, rather than just managing its symptoms.5c+d+e
Advocacy and patient support
Gaucher Disease awareness highlights the common challenges faced by people with rare diseases, such as misdiagnoses and limited treatment options. Rare Diseases South Africa provides support for the 4.1 million South Africans who have been diagnosed with a rare disease or congenital disorder in their lifetime. For patients and families affected by Gaucher disease, there are plenty of educational resources available to help manage the challenges of living with this condition. For more information, visit www.rarediseases.co.za.
“We encourage patients, families, healthcare professionals, and advocates to come together to raise awareness and improve understanding of Gaucher disease,” says Nel. “With ongoing progress in treatments and diagnostic methods, and by reinforcing support systems, we are working towards a future where everyone affected by Gaucher disease can live full, healthy lives.”
References:
1. National Gaucher Foundation. What is Gaucher disease? [Accessed Sept 2024]. Available from: https://www.gaucherdisease.org/about-gaucher-disease/what-is/2. International Gaucher Alliance (IGA). Impact Report 2023. [Accessed Sept 2024]. Available from: https://gaucheralliance.org/wp-content/uploads/2024/03/2023-Impact-Report-final.pdf#:~:text=The%20International%20Gaucher%20Alliance%20(IGA)%20Impact%20Report%202023%20reflects%20our3. National Organisation for Rare Disorders (NORD). Gaucher Disease. [Accessed Sept 2024]. Available from: https://rarediseases.org/rare-diseases/gaucher-disease/4. International Gaucher Alliance (IGA). Treatments Available. [Accessed Sept 2024]. Available from: https://gaucheralliance.org/treatments-available/5. Weijing Kong, Cheng Lu, Yingxue Ding, Yan Meng, Update of treatment for Gaucher disease, European Journal of Pharmacology, Volume 926, 2022, 175023, ISSN 0014-2999.
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