Clinicians and patients characteristics

Overall, 20 patients and 25 HCPs scattered all around Spain were interviewed. The characteristics of the participants are described in Table 1. Although the focus of this work was the patient´s experience, more HCPs than patients were included to facilitate the inclusion of patients according to the inclusion criteria.

Table 1 Number and characteristics of patients and clinicians

Medical specialties were in accordance with the signs and symptoms of the given LSD. In the case of GD, all patients were affected with Type 1, in PD all patients were late-onset phenotype, and in MPSI, all patients had the mildest type: the Scheie Syndrome. Sixteen (80%) out of 20 patients were receiving treatment at the time of the study.

Impact of the disease on the habits and routines of patients

We analysed the different perception of patients on the impact of the LSD on their daily routines. Patients would range the impact with labeled cards. A brief description of signs and symptoms, together with the course of each LSD is included in Table 2 to facilitate the reader´s understanding of the clinical course of these pathologies. Patients with these four LSD have very different clinical symptomatology. Moreover, there is also a high variability within a given LSD. In general, patients end up with physical activity restrictions due to the disease.

Table 2 Description of the signs and symptoms, and the course of included LSD

The greatest impact patients mentioned were related to their “emotional side”, their “work/school environment”, their “family”, and their “social life”. The results of this investigation are described in Table 3.

Table 3 Impact on habits and routines of patients and examples of comments about the impact of the disease

Their disease manifested in their day to day to different extents depending on the onset or severity of symptoms and not always on organic damage. Patients with FD or MPSI saw their quality of life more limited. On one hand, Fabry patients had suffered pain crisis, GI-symptoms and fatigue during their childhood that had very frequently conditioned their adult behaviours with insecurities at work or other social environments. On the other hand, patients with MPSI, with visible physical symptoms -mainly skeletal deformities-saw their quality of life limited, mainly due to mobility difficulties as the disease progressed. For most individuals with LSDs, the inability to carry out some activities at work or at school, sometimes limited the education and career opportunities. However, less limited patients could perform physical activities, sometimes following their doctors’ recommendations.

Regarding the family impact, in some cases, they felt incomprehension from their close environment concerning some symptoms such as fatigue, which on many occasions changed to acceptance after diagnosis. Nevertheless, patients generally felt understood and supported by their closer family.

Patient journey

The Patient Journey was elaborated based in the perceptions patients had. Individual perceptions are collected in Table 4.

Table 4 Patient journey positive and negative aspects from the patient perspective

The only stage in which patients only referred negative aspects was in the pre-diagnosis. The delay in diagnosis and misdiagnosis were the most mentioned issues. In MPSI patients, with a marked external phenotype since childhood, reaching diagnosis generally took only a few months in contrast to much longer diagnosis times in the other LSDs. Yet, a MPSI patient is the one with a greater diagnosis delay in our sample, although the reason for this delay was not identified.

In general, once the diagnosis was reached, patients felt comfort in finally naming their condition and relief to know there was a treatment that attenuated the progression. Nevertheless, they also felt disappointment when they learnt their disease was progressive and incurable. The patients’ experiences differed depending on whether the diagnosis was reached as a child or as an adult. Those patients diagnosed as adults reported more negative aspects regarding pre-diagnosis and diagnosis stages, due to the diagnostic delay. One of the main concerns referred by patients was the possibility of transmitting the disease to their offspring, to the point that even guilt was present in parents of affected children.

Regarding specific treatment and follow-up, both paths were parallel in patients who started with the first one. Some LSDs have oral or intravenous treatments with different degree of published evidence, while others have only an intravenous treatment. On addition, patients had to attend a close and multidisciplinary follow-up. Therefore, hospital dependency was elevated, and sometimes hospital visits interfered with personal life.

Regarding treatment, most patients showed confidence in their specialists. Once the decision of starting treatment was made by the patient and the specialist, a long bureaucratic process started before approval, being the final decision taken by a committee. Patients expressed surprise, indignation, annoyance or understanding for not being examined directly by these committees.

All patients felt empowered and satisfied when the treatment started, hoping their limitations would be reduced, but also faced uncertainty regarding their treatment response. The latter was more marked for many PD and MPSI patients since there is only one therapeutic option.

The follow-up stage was the one in which there was fewer negative perceptions referrals. All patients had a close relationship with their LSD-specialist physician. A special mention needs to be made about the feelings of parents of LSD-patients and of those patients diagnosed at childhood. The moment of transition from the care of the Paediatrician to the follow-up by Internal Medicine specialists was anticipated by parents and experienced by patients with uncertainty and anguish. This was due to the fear of losing the bond with the Paediatricians after many years of building a strong relation with this specialist.

Clinicians’ priorities on lysosomal diseases

Regardless of their specialty, background, and specific LSD with which they were involved, the first priority for physicians was early diagnosis of the LSD, as this was a sine qua non condition for early management of patients. For over 40% of clinicians, alleviating and controlling symptoms to delay organic damage was another of their priorities. Approximately around 40% also mentioned “maintaining the patient’s quality of life” as another of their priorities, “avoiding any type of irreversible complication” and “identifying other possible comorbidities”.

Although main medical priorities were shared by HCPs independently of the specific LSD, there were priorities adapted to the course of the LSD. For example, in PD an early treatment allows preserving the motor and respiratory functionality, thus postponing or avoiding wheelchairs and mechanical ventilation. For these patients, that lacked evident symptoms initially, early treatment was precisely the main medical priority for HCPs. Table 5 gathers HCPs´ priorities within an LSD.

Table 5 HCPs priorities by LSD

Unmet needs

We analysed what patients and HCPs perceived as UNs. The UNs perceived by patients and HCPs were categorized in three groups: “Medical Attention” (diagnosis, HCP expertise and coordination between different HCPs), “Treatment” (access, ease of administration, scientific research) and “Disease Management” (information and awareness, patient’s comprehensive approach, and specific solutions for the improvement of quality of life). Some individual perceptions are collected in Table 6.

Table 6 Main needs of specialist and patients around lysosomal diseases

Medical attention

Patients and specialists perceived early diagnosis as a very important UN. For HCPs, defining and standardising diagnosis criteria within clinical guidelines would be critical to ensure early diagnosis. Nevertheless, HCPs agreed on the fact that family testing, screening programmes as well and the development of Dried Blood Spot tests, had significantly improved early diagnosis. On the other hand, specialists emphasized on the need of patient-centricity, which implied coordination between the medical multidisciplinary team and social care experts.


HCPs considered important to homogenize treatment-access-criteria among regions as well as reducing administrative procedures, which was also a strong UN for patients. On the other hand, for HCPs was very important promoting scientific research focused on expanding therapeutic options, especially in the diseases with a single treatment option (PD and MPSI). Clinicians had great expectations in gene therapy as a way of reaching a final cure. Additionally, the existence of industry-independent registries was perceived as a means of improving knowledge of long-term outcomes. For patients and physicians improving patient experience during infusions was also important, for HCPs this meant separating LSD-patients from other seriously ill patients, reducing waiting times, and journeys to the hospital by promoting home therapy.

Disease management

HCPs demanded a better promotion at national level of the existence of RDs-speciality centres/Units, as well as more resources and clearer boundaries at the political level of the capabilities and responsibilities of such structures. For both HCPs and patients, an UN was an easier access to genetic counselling and psychologists. Many patients also mentioned the need of social workers, as they often lacked information about the governmental benefits they were entitled to. Patients and HCPs also missed having reliable and verified sources of information adapted for patients. On the other hand, clinicians demanded forums where to debate on clinical cases with RD-specialists. The transition of paediatric patients from paediatricians to adult RDs-specialized HCPs was also an important UN for patients and parents. A better understanding by Society was also an important UN.

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