Representatives of patient organisations with rare diseases unanimously signed the DECLARATION FOR NEW-BORN SCREENING FOR LYSOSOMAL DISEASES in Warsaw. The declaration is a collection of recommendations concerning the introduction of screening tests for 5 lysosomal storage diseases, i.e. Pompe disease, Fabry disease, Gaucher disease, Krabbe disease, ASMD A/B, MPS 1. The declaration was initiated by the Orphan National Forum for Rare Disease Therapy and the document is the fruit of meetings and ongoing discussions of leaders of rare disease patient organisations on solutions needed in the area of rare disease diagnostics.
An innovative approach to diagnostics. In 2021, the Plan for Rare Diseases 2021-2023 was adopted, which aims to significantly improve care for patients suffering from rare diseases. This innovative approach to the diagnosis, treatment and support of patients with this group of conditions aims to bring the standards of medical care in Poland in line with the requirements of the European Union, as well as to improve the quality of life of those affected by rare diseases. This objective undoubtedly includes the diagnosis of lysosomal diseases, which at such an early stage is only possible on a wider scale through so-called universal newborn screening,
Lysosomal diseases are rare, inherited metabolic disorderswhich occur due to a deficit or malfunction of lysosomes - responsible for the digestion and recycling of various substances in organisms. As a result of these diseases, lysosomal enzymes, which are essential for the breakdown of various chemical compounds, are not produced or do not function properly. As a result, faulty lysosomes accumulate in cells, leading to tissue and organ damage. There are a number of different lysosomal diseases, all of which are caused by a defect in a particular lysosomal enzyme. Examples of such diseases include Pompe disease, Fabrye Gaucher disease, Krabbe disease, ASMD (Niemann-Pick disease) A/B, MPS 1.
Rare lysosomal diseases should be diagnosed and treated at the earliest possible stage of the disease, optimally before the first symptoms appear, as this is when treatment is most effective. Detection of these diseases at an early stage in life, allows rapid initiation of treatment and minimisation of the potential health burden ( e.g. disability) and can significantly improve the quality of life of patients and their families by allowing rapid intervention and treatment.
One test - 5 disease enzymes. Newborn screening for these diseases would involve adding a test for lysosomal diseases to the list of tests for various diseases, such as SMA, cystic fibrosis or phenylketonuria, which are currently performed as standard for all children on day 2-3 of life. One test performed on a so-called dry blood drop test basis includes the determination of enzymes for Pompe disease, Fabrye Gaucher disease, Krabbe disease, ASMD (Niemann-Pick disease) A/B, MPS 1. In the event of a positive result for one of the diseases included in the testing package, it is possible to detect the disease early, allowing effective treatment to be implemented, protecting the child from life-threatening complications of the disease and improving quality of life.
Newborn screening (NBS) are one of the most accurate, reliable and cost-effective diagnostic methods. Therefore, patient organisations representing people with storage-lysosomal diseases as well as other rare diseases have developed a declaration text to extend screening to a group of 5 diseases: Pompe disease, Fabry disease, Gaucher disease, Krabbe disease, ASMD A/B, MPS 1.
"Detection of these diseases during the newborn period allows timely treatment to be initiated and potential negative health consequences to be minimised. Measures to expand newborn screening can help shorten this process by identifying the disease early. It is also worth emphasising that effective and rapid diagnosis, in addition to health effects, also means savings for the health system, as the patient does not generate costs due to years of diagnosis and complications." reads the declaration in favour of screening newborns for lysosomal diseases
Newborn screening began in the 1960s, when scientist Robert Guthrie, MD, PhD, developed a blood test that could detect whether newborns have the metabolic disorder, phenylketonuria (PKU). Since then, researchers have developed more tests to screen newborns for a variety of serious conditions. Screening tests for more than 60 disorders are now available. Reliable and accurate newborn screening (NBS) methods are now being conducted worldwide before the onset of symptoms. Early diagnosis can lead to improved clinical outcomes in affected patients compared to those whose diagnosis is established on the basis of clinical symptoms. It allows the patient to be monitored and a decision to start treatment at the time of the first symptoms of the disease. Such management improves the quality of life and survival of patients and prevents disability.
Poland has very good experience in the area of newborn screening, and in recent years there has been a significant step towards improving the diagnosis and early recognition of rare diseases. An example of this is the newborn screening programme for spinal muscular atrophy (SMA). Poland is the first country in the world where such screening has been in place for all newborns for over a year. This programme is 100% based on genetic testing and publicly funded. Thanks to this innovative approach, more than half a million newborns have already been screened. The early diagnosis of SMA and the implementation of therapy mean that all children who receive it are alive, developing normally or almost normally, and almost all of them move independently.
The full Declaration is available here: http://rzadkiechoroby.org/projekt-poszerzenie-panhttp://rzadkiechoroby.org/projekt-poszerzenie-panelu-przesiewowego-dla-noworodkow-w-polsce/lu-przesiewowego-dla-noworodkow-w-polsce
The declaration was signed by: National Forum for Rare Disease Therapy Orphan, Carita Foundation, Reetina AMD Poland, Maito Foundation,TTR Amyloidosis Association, SMA Foundation, Sarcoma and Sarcoma Relief Society, Polish Neuromuscular Diseases Society, Polish Cystic Fibrosis Association, Appetite for Life Association, Per Humanus Foundation, Association of Families with Gaucher Disease , Lelka Foundation, Polish Atopic Diseases Association (PTCA), Face to Face" Foundation , StopDuchenne Foundation, UNIQIUS - Rare Diseases Foundation, Association of Families with Fabry Disease, Association of ASMD Patients and their Families.