Abstract
BackgroundLysosomal Storage Diseases (LSDs) are a group of Rare Diseases (RDs) caused by lysosomal enzyme deficiencies. Patients with LSDs suffer from a wide range of symptoms with a strong impact in their daily routines. In this study we aimed to explore the impact of the disease on the lives of patients with four LSDs, as well as how they experience Patient Journey from diagnosis to follow up. Unmet Needs (UNs) perceived by patients and clinicians were assessed to have a better understanding of which initiatives could improve LSDs management and especially those that could result in an improvement of patients’ quality of life.MethodsQualitative research was the research methodology selected for the study. It provides plentiful and holistic insights into people’s views and actions. The study was conducted through in-depth face-to-face semi-structured interviews.ResultsIn total, 20 patients and 25 Health Care Professionals (HCPs) from different Spanish regions were interviewed. Patients perceived that the highest impact of the LSDs was on their daily routines, specifically on their emotional side, their work/school environment, their family and their social life. Regarding the Patient Journey experience, the worst perceived stage was the pre-diagnosis, where patients only reported negative perceptions, being the delay in diagnosis and misdiagnosis the most commented issues. On the contrary, the follow-up stage was the one with less negative perceptions. Overall, patients and HCPs agreed on the priority UNs, such as accelerating diagnosis, reducing bureaucracy for the treatment access and a more coordinated attention for the patients, not only among different physicians but also with other professionals such as genetic counselors or social workers.ConclusionsOur data shows that there are still UNs to be addressed from the perspective of patients and HCPs. The main UN is accelerating diagnosis, which could be achieved by medical awareness and education, according to clinicians. A more comprehensive disease management was another main point to be worked on to improve LSD-patient experience and quality of life.
Highlights
Lysosomal Storage Diseases (LSDs) are a group of Rare Diseases (RDs) caused by lysosomal enzyme deficiencies
Lysosomal Storage Diseases (LSDs) are a group of RDs that share a deficiency in a lysosomal enzyme which leads to the storage of the defective-enzyme substrate
Study design To set up this study, a group of internal medicine clinicians with broad experience in LSDs, organized into a Scientific Committee to decide the guidelines of the research and what qualitative research method was best to address the goals of the study
Summary
Lysosomal Storage Diseases (LSDs) are a group of Rare Diseases (RDs) caused by lysosomal enzyme deficiencies. Patients with LSDs suffer from a wide range of symptoms with a strong impact in their daily routines. Rare diseases (RDs) are defined in the European Union (EU) as the ones that affect no more than 1 in 2000 people. This suggests an estimate of up to 36 million people affected in the EU given the RDs identified to date [1]. Lysosomal Storage Diseases (LSDs) are a group of RDs that share a deficiency in a lysosomal enzyme which leads to the storage of the defective-enzyme substrate. LSDs are inherited and debilitating metabolic disorders, with a wide range of multiorganic clinical signs and symptoms that progress at variable rates [4]
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