Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review
Abstract
:1. Introduction
2. Methods
2.1. Registration and Methodology
2.2. Search Strategy
2.3. Publication Eligibility
2.4. Data Extraction and Outcomes
- How has IV idursulfase led to improved clinical or patient-centered outcomes in children and adults with diagnosed MPS II?
- What are the limitations of using the 6-min walk test (6MWT) as an isolated clinical indicator?
- What are the short- and long-term benefits of the use of IV idursulfase?
- Are the benefits of treatment with IV idursulfase based on presymptomatic diagnosis, phenotype, or age?
- What are the benefits, if any, of IV idursulfase treatment for patients with neuronopathic MPS II?
- Are there any benefits or disadvantages associated with the use of IV idursulfase in patients aged younger than 18 months or younger than 5 years?
- What are the outcomes with different doses of IV idursulfase?
3. Results
3.1. Study Characteristics
3.2. How Has IV Idursulfase Led to Improved Clinical or Patient-Centered Outcomes in Children and Adults with Diagnosed MPS II?
3.2.1. uGAG Levels
3.2.2. Cardiac Outcomes
3.2.3. Respiratory Outcomes
3.2.4. Hepatosplenomegaly
3.2.5. 6MWT Outcomes
3.2.6. Joint Range of Motion Outcomes
3.2.7. Growth Outcomes
3.2.8. Patient-Reported Outcomes
3.2.9. Adverse Events
3.2.10. Immunogenicity
3.3. What Are the Limitations of Using the 6MWT as an Isolated Clinical Indicator?
3.4. What Are the Short- and Long-Term Benefits of the Use of IV Idursulfase?
3.5. Are the Benefits of Treatment with IV Idursulfase Based on Presymptomatic Diagnosis, Phenotype, or Age?
3.5.1. Presymptomatic Diagnosis
3.5.2. Phenotype
3.5.3. Age
3.6. What Are the Benefits, If Any, of IV Idursulfase Treatment for Patients with Neuronopathic MPS II?
3.7. Are There Any Benefits or Disadvantages Associated with the Use of IV Idursulfase in Patients Aged Younger than 18 Months or Younger than 5 Years?
3.8. What Are the Outcomes with Different Doses of IV Idursulfase?
4. Discussion
Strengths and Limitations
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Category | Inclusion Criteria | Exclusion Criteria |
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First Author andYear | Study Design | Country | Study Aims | Treatment Duration | Sample Size, n a | Age at Diagnosis, Years | Age at Symptom Onset, Years | Age at Start of ERT, Years | Patients with Neuronopathic MPS II, Y/N (n/N) | Genotype Details (Y/NR) | <18 Months | 18 Months to 4 Years | 5 Years to 17 Years | ≥18 Years |
Prospective studies | ||||||||||||||
Bagewadi 2008 [23] | P, O, SC | UK | Safety of home ERT | 15 (12–24) weeks b | 17 | NR | NR | Range (4–15) | NR | NR | ✓ | ✓ | ||
Negretto 2014 [24] | P, O, SC | Brazil | uGAG and oxidative stress outcomes | 6 months | 12 | NR | NR | Range (1.6–7.5) | NR | NR | ✓ | ✓ | ||
Muenzer 2007 [13] | P, RCT, SC | USA | Safety and efficacy | 6–12 months | 9 (Tx) 3 (Pbo) | NR | NR | 14 (6–20) b | N | NR | ✓ | ✓ | ||
Giugliani 2014 [12] | P, OL, MC | Multiple countries | Safety, PK/PD, and efficacy | 52 weeks | 28 | 3.8 (0.2–6.5) e | NR | 4.0 (1.4–7.5) e | NR | NR | ✓ | ✓ | ✓ | |
Marucha 2022 [25] | P, O, SC | Poland | JROM | 68–85 weeks (non-neuro) 230 (108–332) weeks (neuro) | 16 | 3.3 (<1–8.5) b | NR | 8.7 (<1–28) b | Y (12/16) | Y | ✓ | ✓ | ✓ | ✓ |
Muenzer 2006 [19] | P, RCT, MC | Multiple countries | Safety and efficacy | 53 weeks | 32 (Tx) c 32 (Pbo) | 5.2 (<1–20) b,d | NR | 15.1 (6.3–26.0) b,d | NR | NR | ✓ | ✓ | ||
Okuyama 2010 [22] | P, OL, MC | Japan | Safety and efficacy | 12 months | 10 | 7.9 | NR | 30.1 (21.1–53.9) b | N | NR | ✓ | |||
Giugliani 2017 [26] | P, O, MC, HOS | Multiple countries | Immuno-genicity | 109 weeks | 26 | 3.8 (0.1–20.0) e | NR | NR | Y (13/24) | NR | ✓ | ✓ | ✓ | |
Kim 2013 [27] | P, O, SC | South Korea | Infusion-related allergic reactions | 154 (13–180) weeks b | 34 | NR | NR | 12 (3–38) e | Y (15/34) | NR | ✓ | ✓ | ✓ | |
Brands 2013 [28] | P, O, SC | The Netherlands | Cardiac outcomes | 0–159 weeks | 6 | Prenatal to 6 | NR | Range (1.0–10.8) | NR | NR | ✓ | ✓ | ✓ | |
Muenzer 2011 [11] | P, OL, MC | Multiple countries | Long-term outcomes | 2–3 years | 94 | NR | NR | 14.5 (5.4–30.9) e | NR | NR | ✓ | ✓ | ||
Tomanin 2014 [29] | P, O, MC | Italy | Effectiveness | ~3.3 years | 27 | 3.5 (0.9, 15.5) e | NR | 5.3 (1.6–27) e | Y (17/27) | Y | ✓ | ✓ | ✓ | |
Muenzer 2017 [30] | P, O, MC, HOS | Multiple countries | Effectiveness | 56.3 (18.2–97.6) months f | 639 | 3.1 (1.0, 6.7) f | 1.5 (0.3, 4.0) f | 6.2 (2.1, 18.2) f | Y (385/626) | NR | Unclear | ✓ | ✓ | ✓ |
Żuber 2014 [31] | P, O, SC | Poland | Height outcomes | 52–288 weeks | 13 | 3 (<0.1–4.0) e | NR | 4.0 (0.3–6) e | Y (12/13) | Y | ✓ | ✓ | ✓ | |
Bik-Multanowski 2017 [32] | P, O | Poland | Effectiveness | <0.5–6.0 y | 45 | NR | NR | Range (0.3–32.5) | NR | NR | ✓ | ✓ | ✓ | |
Parini 2015 [33] | P, O, SC | Italy | Effectiveness | 7.8 (3.0–10.3) years e | 17 | 4.0 (2.0–4.6) e | 0.9 (0–3) e | 9 (2.3–25.5) e | Y (11/16) | Y | ✓ | ✓ | ✓ | |
Retrospective studies | ||||||||||||||
Burton 2011 [34] | R, O, MC, HOS | Multiple countries | IRRs | ≥12 months | 104 | NR | NR | 8.7 (1.6–39.3) e | Y (52/102) | NR | ✓ | ✓ | ✓ | |
Pano 2015 [21] | R, OL, MC | Multiple countries | Immunology assessment | 12 months | 28 | 3.5 (0.2–6.5) e | NR | 4.0 (1.3, 7.5) b | N | Y | ✓ | ✓ | ✓ | |
Burton 2010 [35] | R, O, MC, HOS | Multiple countries | Feasibility of home infusions | NR (only duration of home therapy provided) | 92 | NR | NR | 8.5 (3.4, 17.9) f | Y (34/92) | NR | ✓ | ✓ | Unclear | |
Muenzer 2011 [36] | R, O, MC, HOS | Multiple countries | Safety and Effectiveness | 22.9 (14.6) months c | 124 | 2.4 (0.3, 4.0) f | 1.0 (0.1, 3.0) f | 3.6 (1.6) c | Y (61/118 <6 y; 177/278 ≥6 y) | Y | ✓ | ✓ | ✓ | |
Racoma 2021 [37] | R, O, SC | The Philippines | Effectiveness | 21.1 (10–32) months b | 8 | 7.0 (4.2) c | NR | 14.0 (4.0–21.5) b | Y (all: 32/40; treated: 4/8) | NR | ✓ | ✓ | ✓ | |
Glamuzina 2011 [38] | R, O, SC | UK | Treatment response | 22.1 (5–35) months b | 11 | NR | NR | Range (<1.0–8.7) | Y (7/11) | NR | ✓ | ✓ | ✓ | |
Barbier 2013 [20] | R, RCT/OLE, MC | Multiple countries | Immuno-genicity, safety and efficacy | 105 weeks | 63 | NR | NR | Range (5–31) | N | Y | ✓ | ✓ | ||
Schulze-Frenking 2011 [39] | R, O, MC | Multiple countries | Growth outcomes | 3 years | 18 | NR | NR | Range (6–19) | N | NR | ✓ | ✓ | ||
Lampe 2014 [40] | R, O, MC | Multiple countries | Effectiveness | 4.7 (2.0–6.0) years a,b | 22 | 2.8 (0.2–5.0) b | NR | 6.8 (1.5–21.0) b | Y (22/22) | NR | ✓ | ✓ | ✓ | |
Burton 2017 [41] | R, O, MC, HOS | Multiple countries | Survival outcomes | 57.8 (10.6–106.2) months f | 800 | 3.3 (1.0, 7.1) f | 1.6 (0.3, 4.3) f | 6.9 (2.1, 19.8) f | Y (464/800) | NR | ✓ | ✓ | ✓ | |
do Valle 2020 [42] | R, O, SC | Brazil | Impact of ERT on LVM | 5 years | 14 | 3.2 (0.0–6.0) e | NR | 6.9 (4.0–12.0) e | Y (14/14) | NR | ✓ | ✓ | ||
Ueda 2020 [43] | R, O, MC | Japan | Safety and effectiveness | 336–349 weeks | 145 | 4.0 (0.0, 53.0) f | 1.0 (0.0, 12.0) f | 10.0 (0.0–54.0) f | Y (72/141) | NR | ✓ | ✓ | ✓ | ✓ |
Tomita 2021 [44] | R, O, SC | Japan | Effectiveness | 9.5 (4.5) years c | 20 | NR | NR | Median 7.0 (IQR: 3.0–12.0) | Y (20/28) | Y | ✓ | ✓ | ✓ | ✓ |
Broomfield 2020 [45] | R, O, MC | UK | Effectiveness | 9.3 (0.2, 17.8) years e | 78 | 2.7 (0.3 –15.8) b | NR | 6.6 (<0.1–16.0) e | NR | Y | ✓ | ✓ | ✓ | |
Patel 2014 [46] | R, O, SC | Japan | Growth outcomes | NR | 26 | NR | NR | 4.5 (2.4) c | Y (35/44) | NR | ✓ | ✓ | ✓ | Unclear |
Cross-sectional studies | ||||||||||||||
Jones 2013 [47] | CS, O, MC, HOS | Multiple countries | Growth outcomes | NR (data in study collected for treatment ≤24 months) | 133 | 4.0 (1.5, 8.3) f | 2.0 (0.3, 4.8) f | 11.3 (2.2 c | Y (66/133) | Y | ✓ | |||
Jacques 2016 [48] | CS, O, SC | Brazil | Effect on oxidative stress and cytokines | 5.2 (1.5–7.0) years b | 8 | NR | NR | 11.9 (1.5–23.1) b | NR | NR | ✓ | ✓ | ✓ |
Outcome | Treatment Duration | Results Overview |
---|---|---|
uGAG | 4–6 months |
|
1 year |
| |
2 years |
| |
3–3.5 years | ||
5 years |
| |
7 years |
| |
8 years |
| |
9.5–10 years |
| |
Cardiac | 1 year |
|
2–3.5 years |
| |
5 years |
| |
5–8 years |
| |
11–14 years |
| |
Respiratory | 1 year |
|
2 years |
| |
3 years |
| |
8 years |
| |
10 years |
| |
Hepatosplenomegaly | 3–6 months |
|
1 year |
| |
3–6 years |
| |
5–8 years |
| |
6MWT | 4–6 months |
|
1 year |
| |
2 years |
| |
3–3.5 years |
| |
6 years |
| |
7–8 years |
| |
10 years |
| |
Safety and immunogenicity | 1–6 months |
|
1 year |
| |
2–3 years |
| |
5–7 years |
| |
8 years |
|
Outcome | Results Overview |
---|---|
uGAG |
|
Cardiac |
|
Lung |
|
Hepatosplenomegaly |
|
6MWT |
|
Safety and immunogenicity |
|
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© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
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Al-Hertani, W.; Pathak, R.R.; Evuarherhe, O.; Carter, G.; Schaeffer-Koziol, C.R.; Whiteman, D.A.H.; Wright, E. Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review. Int. J. Mol. Sci. 2024, 25, 8573. https://doi.org/10.3390/ijms25168573
Al-Hertani W, Pathak RR, Evuarherhe O, Carter G, Schaeffer-Koziol CR, Whiteman DAH, Wright E. Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review. International Journal of Molecular Sciences. 2024; 25(16):8573. https://doi.org/10.3390/ijms25168573
Chicago/Turabian StyleAl-Hertani, Walla, Ravi R. Pathak, Obaro Evuarherhe, Gemma Carter, Carolyn R. Schaeffer-Koziol, David A. H. Whiteman, and Ekaterina Wright. 2024. "Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review" International Journal of Molecular Sciences 25, no. 16: 8573. https://doi.org/10.3390/ijms25168573