Efficacy of recombinant human α‐L‐iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients

Abstract

The aims of the study were to assess the effectiveness of enzyme replacement therapy (ERT) with laronidase on the range of motion (ROM) of upper extremities and influence on activities of daily living (ADLs) of patients with mucopolysaccharidosis type I (MPS I). The ROM of 17 patients with MPS I was followed from the first year of life until the introduction of ERT and after 52-208 weeks of treatment. In all patients (group 1, n = 10), passive ROM was assessed. In patients with Hurler/Scheie or Scheie phenotype (group 2, n = 7) both passive and active ROM, as well as daily life activities, were evaluated. Passive and active ROM was measured by a goniometer, while a health assessment questionnaire was used to assess activities of daily living. The data since the first months of life until the beginning of treatment were obtained by retrospective review of patients' charts. Restriction in ROM of the upper extremities of patients with MPS I was observed from the first year of life. These limitations intensified and became more severe with the patients' age, making patients' self-care more difficult or even impossible. Introduction of ERT led to slower progression of symptoms, especially in the passive range of motion in all patients. Additionally, patients with normal mental development, or only slightly delayed (group 2), who underwent active physical rehabilitation (including mobilisation of nerve system, passive techniques for joint mobility, active gymnastics for muscle power, as well as massage and the training of families for therapy at home) showed improvement in active movement followed by enhanced self-care.

Musculoskeletal manifestations of mucopolysaccharidosis type VI and effects of enzyme replacement therapy

“…Preliminary observations after several months of treatment did not show a clear improvement. Enzyme replacement therapy in MPS diseases represents the most significant recent advance in patient management and the clinical benefits of galsulfase include improvements in respiratory function, joint mobility, walking ability, and quality of life [14,24,25]. However, in the last few years, it has become clear that in patients with LSDs not all organs respond equally to ERT, and some disease manifestations such as bone complications, once established, are difficult to address.…”

“…The long-term impact of ERT on range of motion, and the extent to which treatment may enable achievement and maintenance of full independence in the performance of routine ADL, has been described in a recent study by Tylki-Szymanska et al [25]. However, to increase muscle strength, physical exercises and rehabilitation are indispensible.…”

Manifestations ostéoarticulaires des mucopolysaccharidoses et des glycogénoses

“…L'efficacité de l'␣-l-iduronidase recombinante (laronidase) sur la limitation articulaire des membres supérieurs a été étudiée chez dix patients atteints de MPS I (Hurler) âgés d'un à dix ans et sept patients (2,5 à 39 ans) avec un phénotype Hurler/Scheie ou Scheie [21]. L'introduction précoce de l'enzymothérapie substitutive a conduit a une progression plus lente des symptômes, avec amélioration de la mobilité passive chez tous les patients, après un suivi de 52 à 208 semaines ; dans les phénotypes atténués, l'amélioration a porté sur la mobilisation active, lorsque l'enzymothérapie était associée à une prise en charge rééducative (mobilisation active et passive, massages, entretien à domicile par les familles), confirmant une étude en double insu (26 semaines puis phase d'extension de 3,5 ans) sur 45 patients (16 ans de moyenne d'âge) avec un phéno-type atténué [22].…”

Natural history of Polish patients with mucopolysaccharidosis type VI

“…In studies performed by Tylki-Szymanska et al and Rozdzynska et al, it has been shown that anthropometric features of patients with MPS I and MPS II significantly differ from the healthy population (i.e. children grow considerably slower) and differences increase with age [6,7].…”