High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): A national, observational, cross-sectional study

Ruijter, Jessica de; Maas, Mario; Janssen, Anneloes; Wijburg, Frits A.

doi:10.1016/j.ymgme.2013.03.004

Cited by 34 publications

(25 citation statements)

References 19 publications

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“…Another possible cause of inflammation may lie in the weight-bearing forces on the affected bones, which might eventually lead to pain (Oussoren et al 2011). As early osteoarthritis has been described in MPS, this might add to the severity of pain in this patient group (Oussoren et al 2011;Bank et al 2009;de Ruijter et al 2013). As well as joint problems, MPS patients have other complications that might lead to pain, two of them being carpal tunnel syndrome and intracranial pressure (Kwon et al Ferrari et al 2011).…”

Section: Discussionmentioning

confidence: 99%

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross‐sectional national survey

Brands

Güngör

Hout

et al. 2014

J of Inher Metab Disea

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Section: Discussionmentioning

confidence: 99%

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross‐sectional national survey

Brands

Güngör

Hout

et al. 2014

J of Inher Metab Disea

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“…Umbilical or inguinal hernias are frequently reported [25, 29, 30]. Multiple skeletal manifestations have been described, particularly hip dysplasia and osteonecrosis of the femoral head [23, 61, 62]. …”

Section: Recommendationsmentioning

confidence: 99%

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Ghosh

Shapiro

Rust

et al. 2017

Orphanet J Rare Dis

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BackgroundMucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting clinical research in this area. We seek to make recommendations on the approach to clinical research in MPS III, including the selection of outcome measures and trial endpoints, in order to improve the quality and impact of research in this area.ResultsAn international workshop involving academic researchers, clinical experts and industry groups was held in June 2015, with presentations and discussions on disease pathophysiology, biomarkers, potential therapies and clinical outcome measures. A set of recommendations was subsequently prepared by a working group and reviewed by all delegates. We present a series of 11 recommendations regarding the conduct of clinical research, outcome measures and management of natural history data in Mucopolysaccharidosis type III.ConclusionsImproving the quality of clinical research in Mucopolysaccharidosis type III will require an open, collaborative and systematic approach between academic researchers, clinicians and industry. Natural history data should be published as soon as possible and ideally collated in a central repository. There should be agreement on outcome measures and instruments for evaluation of clinical outcomes to maximise the effectiveness of current and future clinical research.

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“…The mucopolysaccharidoses have as most prominent features the dysplasia of the skeleton, but may also also present as a first sign in attenuated phenotypes with femoral head abnormalities resembling avascular necrosis [ 98 ]). True avascular necrosis of the femoral head is more frequent in MPS III, Sanfilipo disease [ 99 ]. Early arthropathy is common, and is also the main symptom of skeletal disease in the mucolipidoses.…”

Section: Diagnosis: When To Suspect An Inborn Error Of Metabolismmentioning

confidence: 99%

Bone health in patients with inborn errors of metabolism

Langeveld

Hollak

2018

Rev Endocr Metab Disord

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Inborn errors of metabolism encompass a wide spectrum of disorders, frequently affecting bone. The most important metabolic disorders that primarily influence calcium or phosphate balance, resulting in skeletal pathology, are hypophosphatemic rickets and hypophosphatasia. Conditions involving bone marrow or affecting skeletal growth and development are mainly the lysosomal storage disorders, in particular the mucopolysaccharidoses. In these disorders skeletal abnormalities are often the presenting symptom and early recognition and intervention improves outcome in many of these diseases. Many disorders of intermediary metabolism may impact bone health as well, resulting in higher frequencies of osteopenia and osteoporosis. In these conditions factors contributing to the reduced bone mineralization can be the disorder itself, the strict dietary treatment, reduced physical activity or sunlight exposure and/or early ovarian failure. Awareness of these primary or secondary bone problems amongst physicians treating patients with inborn errors of metabolism is of importance for optimization bone health and recognition of skeletal complications.

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High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): A national, observational, cross-sectional study

Cited by 34 publications

References 19 publications

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross‐sectional national survey

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross‐sectional national survey

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Bone health in patients with inborn errors of metabolism

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