scholarly journals The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China

2021 ◽  
Author(s):  
Jiahao Hu ◽  
Lin Zhu ◽  
Jiangjiang He ◽  
Dingguo Li ◽  
Huiwen Zhang ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Economic Burden ◽  
Gaucher Disease ◽  
Lysosomal Storage Diseases ◽  
The Other ◽  
Lysosomal Storage ◽  
Total Health Expenditure ◽  
Enzyme Replacement ◽  
Reimbursement Level

Abstract Background Lysosomal storage diseases (LSDs) are a group of rare diseases that caused progressive physical dysfunction and organ failure, which significantly affected patients’ quality of life. Enzyme replacement treatments (ERTs) are now acknowledged as the advanced therapies for LSDs while cost millions per patient per year. Previous studies seldom reported the usage of ERTs and disease burden of patients with LSDs in China. The objective of this study was to explore the characteristics and usage of ERTs of patients with the four different LSDs (Gaucher, Fabry, Pompe disease and Mucopolysaccharidosis) in Shanghai and then evaluate the economic burden and quality of life of these patients. Methods The study used data extracted from a large survey of living conditions of patients with rare diseases in Shanghai, which was conducted from April to August 2020. A total of 31patients, involving 5, 14, 4 and 8 patients with Gaucher, Fabry, Pompe disease and Mucopolysaccharidosis, respectively, was included in analysis. Descriptive statistics was used to describe the socio-demographic information (age, gender, education and etc.), economic burden caused by LSDs (direct medical and non-medical costs, and indirect cost in 2019), the treatment (usage of drugs) and the patients’ quality of life. Results Five Gaucher disease patients in Shanghai used Imiglucerase in 2019, while the other 26 patients with the other three LSDs didn’t receive ERTs. The total health expenditure of Gaucher disease patients was 2,273,000CNY on average mainly resulted by the high cost of Imiglucerase. The total health expenditure of the other 26 patients was 37,765CNY on average. The average total disease burdens of Gaucher disease patients and the patients with the other three LSDs were 164,301CNY and 58,352CNY, respectively. The mean EQ-VAS score of GD patients was 76.4 ± 15.5, which was higher than that of the other three LSDs. All the patients with LSDs in this study reported poor quality of life, which was significantly worse than the Chinese general population. Conclusion Few patients with LSDs in Shanghai could have access to available ERTs without a high reimbursement level. Though the cost-sharing mechanism of basic medical insurance, charity fund and patients had been explored for Gaucher disease in Shanghai, the Out-of-pocket part still laid a heavy economic burden on the patients and their families. The scope of drug reimbursement list and the reimbursement level should be further expanded and raised to help improve the quality of life of patients with LSDs.

Home-based service for enzyme replacement therapy in lysosomal storage disorders: patient reported outcomes

2018 ◽  
Vol 6 (4) ◽  
pp. 669
Author(s):  
Paolo Tirelli ◽  
Fiorina Giona ◽  
Maja Di Rocco ◽  
Elena Cassinerio ◽  
Antonio Pisani ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Nursing Service ◽  
Enzyme Replacement ◽  
Home Based ◽  
Patient Reported

Background:  Lysosomal storage diseases (LSDs) are a heterogeneous group of rare chronic genetic conditions. The standard-of-care treatment for LSDs is hospital-based infusion of enzyme replacement therapy (ERT), however, over time this can be stressful and inconvenient. The Italian TuTor program, established in 2011 by Sanofi Genzyme, is a professional nursing service providing home-based ERT to patients with LSDs.Objectives:  The current questionnaire-based study was conducted to investigate the level of patient satisfaction with theTuTor program and to shed light on disease perception.Methods:  Patients were enrolled in the TuTor program from 2011 onwards. The first 100 patients enrolled were interviewed at baseline with follow-up interviews conducted at 6, 12 and 18 months.Results: Overall, 52 patients were female; 46 had Gaucher’s disease, 46 had Fabry disease and 8 had mucopolysaccharidosis type 1. Patients took on average >2 hours to receive hospital-based ERT, plus time associated with the infusion; 2 out of 3 patients needed a caregiver to travel to the hospital. After receiving home-based ERT for 6 months, 37% of patients considered their quality of life ‘greatly improved’ (60% at 18 months). Overall, 99% to 100% of patients rated the home-based nursing service as ‘positive’ or ‘very positive’ and reported that they would recommend the service to other patients with their condition.Conclusions: For patients with LSDs eligible for ERT, a disease-specific home-based nursing service increased their perception of quality of life over a hospital-based service and was advantageous in terms of their time and expenditure.

scholarly journals Improvements in bone pain and patient quality of life in adults with Gaucher disease during substrate reduction therapy: a case series

2019 ◽  
Vol 8 (3) ◽  
Author(s):  
Dominick Amato ◽  
Patterson MA
Keyword(s):  
Quality Of Life ◽  
Gaucher Disease ◽  
Bone Pain ◽  
Age At Onset ◽  
Case Series ◽  
Substrate Reduction Therapy ◽  
Lysosomal Storage ◽  
Mineral Density ◽  
Enzyme Replacement

Background: Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by a deficiency of glucocerebrosidase, and is characterised by haematological, visceral and bone manifestations that vary widely in terms of severity and age at onset. In particular, the bone manifestations of GD1 can restrict physical activity and impact heavily on patient quality of life (QoL). Here, we describe three GD1 patients who showed remarkable improvements in bone-related outcomes during treatment with oral miglustat, two of whom had previously failed to respond to relatively high doses of enzyme replacement therapy (ERT). In the third, needle phobia led to oral miglustat being used as the initial treatment. Case presentation: Case 1 is a 39 year-old female diagnosed aged 4 years (genotype N370S/L444P) and underwent ERT (alglucerase then imiglucerase) since 1994. In 2013 she discontinued ERT (treatment duration 19 years) due to ongoing and debilitating bone pain and fatigue, and switched to miglustat therapy. She has since experienced substantial reductions in bone pain and improved physical function. Case 2 is a 59 year-old female diagnosed aged 17 years (genotype N370S/H162P). She commenced ERT treatment in 2002, with a brief interruption in 2007, and continued on ERT (imiglucerase followed by velaglucerase) up to 2014: total ERT monotherapy duration 12 years. She subsequently received combination therapy (velaglucerase plus miglustat) for 2 years but finally switched to miglustat monotherapy in 2016 due to ongoing bone manifestations. Her bone pain has since improved a great deal, alongside improvements in QoL parameters. Case 3 is a 48 year-old male diagnosed aged 11 years (genotype R463C/L105R). Having not received any previous treatment he avoided ERT due to life-long needle phobia. He therefore started miglustat therapy in late-2017, and has received it for approximately 1 year. During this time he experienced vast improvements in QoL due to decreased bone pain. Interestingly in all three cases, there were little or no observed changes in objective bone parameters (bone marrow burden, bone mineral density). Conclusions: These three GD1 cases illustrate the potential to achieve substantial reductions in bone pain and improvements in QoL, even in patients who have failed to respond to long-term ERT with regard to bone status.

scholarly journals REDUCED DOSING REGIMEN OF ENZYME REPLACEMENT THERAPY IN ADULT PATIENTS WITH TYPE I GAUCHER DISEASE: PRELIMINARY RESULTS

2019 ◽  
Vol 64 (3) ◽  
pp. 331-341 ◽  
Author(s):  
R. V. Ponomarev ◽  
K. A. Lukina ◽  
E. P. Sysoeva ◽  
R. B. Chavynchak ◽  
A. A. Solovyeva ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Lysosomal Storage Diseases ◽  
Adult Patients ◽  
Type I ◽  
Treatment Goals ◽  
Lysosomal Storage ◽  
Current Standard ◽  
Enzyme Replacement

Introduction. Gaucher disease (GD) belongs to the group of lysosomal storage diseases. Enzyme replacement therapy (ERT) is considered to be the current standard in GD treatment. No reduced ERT regimen has thus far been developed. Aim. To develop an optimal reduced ERT regimen for adult patients with type I GD, which is scientifically and economically viable.Materials and methods. The study included 100 adult patients with type I GD who achieved treatment goals following at least two years of the standard ERT regimen. Patients were prescribed a reduced ERT regimen, which consisted in increasing the interval between the infusions of the recombinant enzyme up to 4 weeks, at a dose of 15–20 units/kg of body weight. The efficacy of the reduced ERT regimen was assessed once every 12 months according to main GD parameters. The follow-up period in the study ranged from 12 to 36 months.Results. The patients with type I GD who achieved treatment goals following the standard ERT regimen and were then prescribed a reduced ERT regimen retained a stable therapeutic effect of the initial treatment according to all parameters: no clinically significant differences found in haemoglobin and platelet levels, spleen size and specific infiltration of femur bone marrow.Conclusion. An increase in the intervals between infusions of the recombinant glucocerebrosidase up to 4 weeks for 12, 24 and 36 months did not lead to worsening of the laboratory and instrumental parameters associated with GD. 

scholarly journals Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals

2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Juan de Dios García-Díaz ◽  
Mónica López-Rodríguez ◽  
Montserrat Morales-Conejo ◽  
Antoni Riera-Mestre ◽  
Keyword(s):  
Quality Of Life ◽  
Health Care Professionals ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Patient Journey ◽  
Storage Diseases ◽  
Daily Routines ◽  
Negative Perceptions

Abstract Background 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. 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. Methods Qualitative 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. Results In 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. Conclusions Our 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.

Inherited metabolic diseases

2013 ◽  
pp. 1451-1456
Author(s):  
Bernhard Manger
Keyword(s):  
Metabolic Diseases ◽  
Signs And Symptoms ◽  
Lysosomal Storage Diseases ◽  
Organ Damage ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Enzyme Replacement ◽  
Hereditary Disorders ◽  
Enzymatic Pathways

A variety of hereditary disorders can present with structural or functional alterations of the musculoskeletal system. In particular, genetic defects within enzymatic pathways involved in the lysosomal degradation of various substrates can manifest with bone or joint symptoms. Because musculoskeletal complaints are frequently the first reason for the patient to seek medical advice, the rheumatologist may play a crucial role in the early diagnosis of these diseases. Lysosomal storage diseases are a heterogeneous group of individually very rare disorders, but taken together they have a prevalence of more than 1 in 8000 live births. Some of these lysosomal storage diseases can nowadays be treated very effectively by enzyme replacement therapies; however, a timely start of treatment is essential to avoid irreversible organ damage and deterioration of the quality of life. Therefore, the rheumatologist should be able to recognize signs and symptoms of the most frequent treatable lysosomal storage diseases.

CREATING WALKING LED TRANSIT STATIONS FOR WOMEN IN MALAYSIA

2020 ◽  
Vol 7 (1) ◽  
pp. 99
Author(s):  
Yong Adilah Shamsul Harumain ◽  
Nur Farhana Azmi ◽  
Suhaini Yusoff
Keyword(s):  
Quality Of Life ◽  
Developing Countries ◽  
Public Transportation ◽  
Carbon Emission ◽  
The Other ◽  
Walking Distance ◽  
The Road ◽  
On The Road ◽  
Female User

Transit stations are generally well known as nodes of spaces where percentage of people walking are relatively high. The issue is do more planning is actually given to create walkability. Creating walking led transit stations involves planning of walking distance, providing facilities like pathways, toilets, seating and lighting. On the other hand, creating walking led transit station for women uncover a new epitome. Walking becomes one of the most important forms of mobility for women in developing countries nowadays. Encouraging women to use public transportation is not just about another effort to promote the use of public transportation but also another great endeavour to reduce numbers of traffic on the road. This also means, creating an effort to control accidents rate, reducing carbon emission, improving health and eventually, developing the quality of life. Hence, in this paper, we sought first to find out the factors that motivate women to walk at transit stations in Malaysia. A questionnaire survey with 562 female user of Light Railway Transit (LRT) was conducted at LRT stations along Kelana Jaya Line. Both built and non-built environment characteristics, particularly distance, safety and facilities were found as factors that are consistently associated with women walkability. With these findings, the paper highlights the criteria  which are needed to create and make betterment of transit stations not just for women but also for walkability in general.

scholarly journals Quality of Life of Brazilian Vegetarians Measured by the WHOQOL-BREF: Influence of Type of Diet, Motivation and Sociodemographic Data

Nutrients ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 2648
Author(s):  
Shila Minari Hargreaves ◽  
Eduardo Yoshio Nakano ◽  
Heesup Han ◽  
António Raposo ◽  
Antonio Ariza-Montes ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Online Survey ◽  
Well Being ◽  
Vegetarian Diet ◽  
The Other ◽  
Average Score ◽  
Cross Sectional ◽  
Domain 3 ◽  
Domain 4

This study aimed to evaluate the general quality of life (QoL) of Brazilian vegetarians. A cross-sectional study was conducted with Brazilian vegetarian adults (18 years old and above). Individuals were recruited to participate in a nationwide online survey that comprised the WHOQOL-BREF as well as sociodemographic and characterization questions related to vegetarianism. The WHOQOL-BREF is composed of 24 items which are divided into four domains (domain 1: physical health; domain 2: psychological well-being; domain 3: social relationships; and domain 4: environment), plus two general items which were analyzed separately, totaling 26 items. The answers from the questionnaire were converted into scores with a 0–100 scale range, with separate analyses for each domain. Results were compared among groups based on the different characteristics of the vegetarian population. A total of 4375 individuals completed the survey. General average score results were 74.67 (domain 1), 66.71 (domain 2), 63.66 (domain 3) and 65.76 (domain 4). Vegans showed better scores when compared to the other vegetarians, except in domain four, where the statistical difference was observed only for semi-vegetarians (lower score). Individuals adopting a vegetarian diet for longer (>1 year) showed better results for domains one and two, with no difference for the other domains. Having close people also adopting a vegetarian diet positively influenced the results for all domains. On the other hand, it was not possible to distinguish any clear influence of the motivation for adopting a vegetarian diet on the scores’ results. Adopting a vegetarian diet does not have detrimental effects on one’s QoL. In fact, the more plant-based the diet, and the longer it was adopted, the better the results were.

scholarly journals Burnout in Professional Caregivers and Quality of Life in Institutionalized Center Residents

2013 ◽  
Vol 4 (1) ◽  
pp. 41-53
Author(s):  
Juan P. Martínez ◽  
Inmaculada Méndez ◽  
Esther Secanilla ◽  
Ana Benavente ◽  
Julia García Sevilla
Keyword(s):  
Quality Of Life ◽  
Ad Hoc ◽  
Maslach Burnout Inventory ◽  
The Other ◽  
People With Dementia ◽  
Professional Caregiver ◽  
The One ◽  
Shed Light ◽  
Professional Accomplishment

Starting from previous studies in professional caregivers of people with dementia and other diseases in institutionalized centers of different regions, the aim of this study was to compare burnout levels that workers present depending on the center, to create a caregiver profile with high professional accomplishment and to describe the quality of life that residents perceive Murcia and Barcelona. The instruments used were the Maslach Burnout Inventory (MBI), the Professional Caregiver Survey developed ad hoc and the Brief Questionnaire of Quality of Life (CUBRECAVI in Spanish) on residents. The results show, on the one hand, that levels of professional accomplishment may be paradoxically higher in the case of catastrophe and, on the other hand, the 98.2% of users are satisfied with the residence in which is located and 81.8% with the manner in which occupy the time. The conclusions that are extrapolated from the study shed light on the current situation of workers and residents and the influence that an earthquake can have on them.

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