Experiences of patients with lysosomal storage disorders treated with enzyme replacement therapy: a qualitative systematic review protocol

Koto, Yuta; Ueki, Showa; Yamakawa, Miyae; Sakai, Norio

doi:10.11124/jbies-20-00017

Cited by 4 publications

(3 citation statements)

References 24 publications

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“…A total of 37 findings with narrative illustrations were extracted from the seven studies; of these, 33 were assessed as being unequivocal, and four were determined to be credible (Appendix IV). The protocol states that patients’ and family members’ experiences may be separated for synthesis if necessary 26 ; however, after careful reading of the articles, two reviewers found that patients with an LSD who need therapeutic interventions starting from childhood, and their families, have all experienced suffering and worked together to cope with the difficulties. Thus, after discussion with the third reviewer, the reviewers determined that it was not appropriate to separate them.…”

Section: Resultsmentioning

confidence: 99%

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Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review

Koto

Ueki

Yamakawa

et al. 2021

JBI Evidence Synthesis

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The objective of this review was to investigate the experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members.Introduction: Lysosomal storage disorders are rare diseases caused by mutations in the genes that encode proteins required for lysosomal function. The age of onset of these disorders varies from infancy to adulthood, depending on the specific disease and type. Enzyme-replacement therapy is the standard treatment for some lysosomal storage disorders. However, patients' adherence to this treatment is affected not only by the resultant changes (or lack thereof) in their symptoms, but also by the scheduling of the frequent hospital visits necessary to receive this treatment. No previous qualitative systematic review has examined the experiences of these patients and their families.Inclusion criteria: Qualitative studies on the experiences of patients with lysosomal storage disorders who were receiving enzyme-replacement therapy and/or the experiences of the family members of these patients were included. These experiences could include satisfaction/dissatisfaction with diagnosis, difficulties and expectations regarding continuing treatment, advantages/disadvantages concerning school and work life, the psychological burden on families, and the support provided by families. This review considered studies in all settings because relevant experiences may occur outside medical institutions.Methods: MEDLINE, CINAHL Plus, APA PsycINFO, Scopus, and Igaku Chuo Zasshi were searched for articles published between January 1991 and May 13, 2021. No language restrictions were applied. The study selection, critical appraisal, data extraction, and data synthesis were performed in accordance with the JBI methodology for systematic reviews of qualitative evidence.Results: Seven studies were included in this review, from which 37 findings with narrative illustrations were extracted; of these, 33 were assessed as unequivocal and four as credible. These findings were integrated into 10 categories and three synthesized findings. The first synthesized finding was encouraging awareness of the minor changes in physical symptoms caused by the treatment, which contains categories such as physical change caused by treatment. The second synthesized finding was supporting acceptance of the disease and coping with associated psychological challenges, which contains categories such as concerns regarding the future. The third synthesized finding was customization of treatment plans to minimize restrictions on the lives of patients and their families, which contains categories such as restrictions on patients' lives. According to the ConQual criteria, all three synthesized findings had low confidence levels. Conclusion:Evidence obtained through the synthesized findings produced in this review identified the primary experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and their family members. These experienc...

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Section: Resultsmentioning

confidence: 99%

“…These articles were evaluated in terms of methodological quality and, if deemed acceptable, the data were extracted and synthesized. This review was conducted in accordance with an a priori protocol, 26 and was registered with PROSPERO (CRD42019147751).…”

Section: Methodsmentioning

confidence: 99%

Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review

Koto

Ueki

Yamakawa

et al. 2021

JBI Evidence Synthesis

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“…Patient organizations, and particularly those focused on rare diseases, have contributed to clinical trial design and recruitment of trial participants. Studies assessing the experiences of parents and patients with LSDs, such as evaluating health-related quality of life [ 21 ], perceptions of ERT [ 22 ], and newborn screening for LSDs [ 23 ], have demonstrated that parents and patients with LSDs are amenable to engaging with the research community. We thus partnered with patient organizations that represent the LSDs included in our phase I clinical trial to incorporate parent and patient perspectives as we consulted with regulatory authorities and developed the clinical trial protocol for in utero ERT.…”

Section: Introductionmentioning

confidence: 99%

Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients

Schwab

Brown

Lianoglou

et al. 2022

Orphanet J Rare Dis

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Background Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood–brain barrier, and early disease onset and progression before ERT is started. We have opened a phase I clinical trial of enzyme replacement therapy (ERT) for fetuses with LSDs (NCT04532047). We evaluated the attitudes of parents and patients with LSDs towards fetal clinical trials and therapies. Methods A multidisciplinary team designed a survey which was distributed by five international patient advocacy groups. We collected patients’ demographic, diagnostic, and treatment information. Associations between respondent characteristics and attitudes towards fetal therapies/trials were analyzed using multivariate ordinal logistic regression. Results The survey was completed by 181 adults from 19 countries. The majority of respondents were mothers from the United States. The most common diseases were MPS1 (26%), MPS3 (19%), and infantile-onset Pompe (14%). Most patients (88%) were diagnosed after birth, at a median of 21 months. Altogether, 65% of participating patients and children of participants had received ERT, 27% a stem cell transplant, and 4% gene therapy. We found that half (49%) of respondents were unlikely to terminate a future affected pregnancy, 55% would enroll in a phase I clinical trial for fetal ERT, and 46% would enroll in a fetal gene therapy trial. Respondents who received postnatal ERT were significantly more likely enroll in a trial for fetal ERT or gene therapy (ERT OR 4.48, 95% CI 2.13–9.44, p < 0.0001; gene therapy OR 3.03, 95% CI 1.43–6.43, p = 0.0038). Respondents who used clinicaltrials.gov as a main source of information were more likely to choose to participate in a fetal trial (ERT OR 2.43, 95% CI 1.18–5.01, p = 0.016; gene therapy OR 2.86, 95% CI 1.27–6.46, p = 0.011). Conclusions Familiarity with postnatal ERT increased respondents’ likelihood of pursuing fetal therapies. Families who use clinicaltrials.gov may be more receptive to innovative fetal treatments. The patient community has a favorable attitude towards fetal therapy; over half of respondents would enroll in a phase I clinical trial to assess the safety and efficacy of fetal ERT.

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Gene Therapy for Inherited Metabolic Diseases

Longo,

Lai

2022

Nutrition Management of Inherited Metabolic Diseases

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Experiences of patients with lysosomal storage disorders treated with enzyme replacement therapy: a qualitative systematic review protocol

Cited by 4 publications

References 24 publications

Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review

Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review

Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients

Gene Therapy for Inherited Metabolic Diseases

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