Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: A retrospective case series analysis of nine sibships

Nouriya A. Al-Sannaa, Luisa Bay, Deborah S Barbouth, Youssef Benhayoun, Cyril Goizet, Norberto Guelbert, Simon A. Jones, Sandra Obikawa Kyosen, Ana Maria Martins, Chanika Phornphutkul, Celia Reig, Rebecca Pleat, Shari Fallet, Iva Ivanovska Holder

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Background: Enzyme replacement therapy (ERT) with laronidase, (recombinant human α-L-iduronidase; Aldurazyme) is the primary treatment option for patients with attenuated mucopolysaccharidosis type I (MPS I). This study examined the effect of early ERT on clinical manifestations. Methods: This multinational, retrospective case series abstracted data from records of 20 patients with Hurler-Scheie syndrome within nine sibships that included older siblings treated with laronidase after the development of significant clinical symptoms, and younger siblings treated before significant symptomatology. Median age at diagnosis was 5.6 and 0.5 years for older and younger siblings, respectively. Median age at ERT initiation was 7.9 and 1.9 years for older and younger siblings, respectively. Results: Improvement or stabilization of somatic signs and symptoms was more notable in younger siblings. Organomegaly present at onset of ERT improved in the majority of both older and younger siblings. Analysis of physician-rated symptom severity demonstrated that cardiac, musculoskeletal, and cognitive symptoms, when absent or mild in younger siblings at ERT initiation, generally did not develop or progress. The majority of older siblings had height/length Z-scores greater than two standard deviations below the mean (less than -2) at both time points. In general, Z-scores for younger siblings were closer to the sex- and age-matched means at follow-up. Conclusions: These findings suggest early initiation of laronidase, prior to the onset of symptoms in patients with attenuated MPS I, can slow or prevent the development of severe clinical manifestations.

Original languageEnglish (US)
Article number131
JournalOrphanet Journal of Rare Diseases
Volume10
Issue number1
DOIs
StatePublished - Oct 7 2015

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Mucopolysaccharidosis I
Siblings
Enzyme Replacement Therapy
Therapeutics
Iduronidase
Neurobehavioral Manifestations
Secondary Prevention
Signs and Symptoms
Physicians

Keywords

  • Early diagnosis
  • Early treatment
  • Enzyme replacement therapy

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I : A retrospective case series analysis of nine sibships. / Al-Sannaa, Nouriya A.; Bay, Luisa; Barbouth, Deborah S; Benhayoun, Youssef; Goizet, Cyril; Guelbert, Norberto; Jones, Simon A.; Kyosen, Sandra Obikawa; Martins, Ana Maria; Phornphutkul, Chanika; Reig, Celia; Pleat, Rebecca; Fallet, Shari; Ivanovska Holder, Iva.

In: Orphanet Journal of Rare Diseases, Vol. 10, No. 1, 131, 07.10.2015.

Research output: Contribution to journalArticle

Al-Sannaa, NA, Bay, L, Barbouth, DS, Benhayoun, Y, Goizet, C, Guelbert, N, Jones, SA, Kyosen, SO, Martins, AM, Phornphutkul, C, Reig, C, Pleat, R, Fallet, S & Ivanovska Holder, I 2015, 'Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: A retrospective case series analysis of nine sibships', Orphanet Journal of Rare Diseases, vol. 10, no. 1, 131. https://doi.org/10.1186/s13023-015-0344-4
Al-Sannaa, Nouriya A. ; Bay, Luisa ; Barbouth, Deborah S ; Benhayoun, Youssef ; Goizet, Cyril ; Guelbert, Norberto ; Jones, Simon A. ; Kyosen, Sandra Obikawa ; Martins, Ana Maria ; Phornphutkul, Chanika ; Reig, Celia ; Pleat, Rebecca ; Fallet, Shari ; Ivanovska Holder, Iva. / Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I : A retrospective case series analysis of nine sibships. In: Orphanet Journal of Rare Diseases. 2015 ; Vol. 10, No. 1.
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abstract = "Background: Enzyme replacement therapy (ERT) with laronidase, (recombinant human α-L-iduronidase; Aldurazyme) is the primary treatment option for patients with attenuated mucopolysaccharidosis type I (MPS I). This study examined the effect of early ERT on clinical manifestations. Methods: This multinational, retrospective case series abstracted data from records of 20 patients with Hurler-Scheie syndrome within nine sibships that included older siblings treated with laronidase after the development of significant clinical symptoms, and younger siblings treated before significant symptomatology. Median age at diagnosis was 5.6 and 0.5 years for older and younger siblings, respectively. Median age at ERT initiation was 7.9 and 1.9 years for older and younger siblings, respectively. Results: Improvement or stabilization of somatic signs and symptoms was more notable in younger siblings. Organomegaly present at onset of ERT improved in the majority of both older and younger siblings. Analysis of physician-rated symptom severity demonstrated that cardiac, musculoskeletal, and cognitive symptoms, when absent or mild in younger siblings at ERT initiation, generally did not develop or progress. The majority of older siblings had height/length Z-scores greater than two standard deviations below the mean (less than -2) at both time points. In general, Z-scores for younger siblings were closer to the sex- and age-matched means at follow-up. Conclusions: These findings suggest early initiation of laronidase, prior to the onset of symptoms in patients with attenuated MPS I, can slow or prevent the development of severe clinical manifestations.",
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T1 - Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I

T2 - A retrospective case series analysis of nine sibships

AU - Al-Sannaa, Nouriya A.

AU - Bay, Luisa

AU - Barbouth, Deborah S

AU - Benhayoun, Youssef

AU - Goizet, Cyril

AU - Guelbert, Norberto

AU - Jones, Simon A.

AU - Kyosen, Sandra Obikawa

AU - Martins, Ana Maria

AU - Phornphutkul, Chanika

AU - Reig, Celia

AU - Pleat, Rebecca

AU - Fallet, Shari

AU - Ivanovska Holder, Iva

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N2 - Background: Enzyme replacement therapy (ERT) with laronidase, (recombinant human α-L-iduronidase; Aldurazyme) is the primary treatment option for patients with attenuated mucopolysaccharidosis type I (MPS I). This study examined the effect of early ERT on clinical manifestations. Methods: This multinational, retrospective case series abstracted data from records of 20 patients with Hurler-Scheie syndrome within nine sibships that included older siblings treated with laronidase after the development of significant clinical symptoms, and younger siblings treated before significant symptomatology. Median age at diagnosis was 5.6 and 0.5 years for older and younger siblings, respectively. Median age at ERT initiation was 7.9 and 1.9 years for older and younger siblings, respectively. Results: Improvement or stabilization of somatic signs and symptoms was more notable in younger siblings. Organomegaly present at onset of ERT improved in the majority of both older and younger siblings. Analysis of physician-rated symptom severity demonstrated that cardiac, musculoskeletal, and cognitive symptoms, when absent or mild in younger siblings at ERT initiation, generally did not develop or progress. The majority of older siblings had height/length Z-scores greater than two standard deviations below the mean (less than -2) at both time points. In general, Z-scores for younger siblings were closer to the sex- and age-matched means at follow-up. Conclusions: These findings suggest early initiation of laronidase, prior to the onset of symptoms in patients with attenuated MPS I, can slow or prevent the development of severe clinical manifestations.

AB - Background: Enzyme replacement therapy (ERT) with laronidase, (recombinant human α-L-iduronidase; Aldurazyme) is the primary treatment option for patients with attenuated mucopolysaccharidosis type I (MPS I). This study examined the effect of early ERT on clinical manifestations. Methods: This multinational, retrospective case series abstracted data from records of 20 patients with Hurler-Scheie syndrome within nine sibships that included older siblings treated with laronidase after the development of significant clinical symptoms, and younger siblings treated before significant symptomatology. Median age at diagnosis was 5.6 and 0.5 years for older and younger siblings, respectively. Median age at ERT initiation was 7.9 and 1.9 years for older and younger siblings, respectively. Results: Improvement or stabilization of somatic signs and symptoms was more notable in younger siblings. Organomegaly present at onset of ERT improved in the majority of both older and younger siblings. Analysis of physician-rated symptom severity demonstrated that cardiac, musculoskeletal, and cognitive symptoms, when absent or mild in younger siblings at ERT initiation, generally did not develop or progress. The majority of older siblings had height/length Z-scores greater than two standard deviations below the mean (less than -2) at both time points. In general, Z-scores for younger siblings were closer to the sex- and age-matched means at follow-up. Conclusions: These findings suggest early initiation of laronidase, prior to the onset of symptoms in patients with attenuated MPS I, can slow or prevent the development of severe clinical manifestations.

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KW - Early treatment

KW - Enzyme replacement therapy

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