Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives

Oussoren, Esmée; Wagenmakers, Margreet A.E.M.; Link, Bianca; Meijden, Jan C. van der; Pijnappel, W.W.M. Pim; Ruijter, George J. G.; Langeveld, Mirjam; Ploeg, Ans T. van der

doi:10.1016/j.bone.2020.115729

Cited by 12 publications

(11 citation statements)

References 91 publications

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“…Targeting IDUA to bone may be accomplished by using hydroxyapatite‐binding sites, terminal deca‐aspartate motifs, or the drug alendronate that has a high affinity to bone. Also, the use of nanoparticles as drug‐carriers have been suggested, but not yet investigated for MPS I 94,111 …”

Section: Challenges In Treating Mps I Bone Disease: Emerging Therapiesmentioning

confidence: 99%

“…Also, the use of nanoparticles as drug-carriers have been suggested, but not yet investigated for MPS I. 94,111 Another alternative is intra-articular ERT. Intraarticular ERT has been shown to be more effective than intravenous ERT for MPS I bone disease in dogs 112 but is, due to the many joints that are involved in MPS I bone disease, probably not a feasible approach for patients.…”

Section: Modification Of Ertmentioning

confidence: 99%

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MPS I: Early diagnosis, bone disease and treatment, where are we now?

Kingma

Jonckheere

2021

J of Inher Metab Disea

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Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterized by α‐L‐iduronidase deficiency. Patients present with a broad spectrum of disease severity ranging from the most severe phenotype (Hurler) with devastating neurocognitive decline, bone disease and early death to intermediate (Hurler‐Scheie) and more attenuated (Scheie) phenotypes, with a normal life expectancy. The most severely affected patients are preferably treated with hematopoietic stem cell transplantation, which halts the neurocognitive decline. Patients with more attenuated phenotypes are treated with enzyme replacement therapy. There are several challenges to be met in the treatment of MPS I patients. First, to optimize outcome, early recognition of the disease and clinical phenotype is needed to guide decisions on therapeutic strategies. Second, there is thus far no effective treatment available for MPS I bone disease. The pathophysiological mechanisms behind bone disease are largely unknown, limiting the development of effective therapeutic strategies. This article is a state of the art that comprehensively discusses three of the most urgent open issues in MPS I: early diagnosis of MPS I patients, pathophysiology of MPS I bone disease, and emerging therapeutic strategies for MPS I bone disease.

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Section: Challenges In Treating Mps I Bone Disease: Emerging Therapiesmentioning

confidence: 99%

Section: Modification Of Ertmentioning

confidence: 99%

MPS I: Early diagnosis, bone disease and treatment, where are we now?

Kingma

Jonckheere

2021

J of Inher Metab Disea

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“…Both intramembranous and endochondral ossification are affected in MPS, ML II, and III. As tooth development shares similarities with bone development, alterations would be expected in teeth as well 3,12–15 …”

Section: Introductionmentioning

confidence: 99%

“…As tooth development shares similarities with bone development, alterations would be expected in teeth as well. 3 , 12 , 13 , 14 , 15 …”

Section: Introductionmentioning

confidence: 99%

“…As tooth development shares similarities with bone development, alterations would be expected in teeth as well. 3,[12][13][14][15] Available literature on orofacial abnormalities in MPS, ML II, and III consists of case reports, case series, and cohort studies, with limited patient numbers included. It is unclear if and to what extent orofacial abnormalities occur in all subtypes of MPS, ML II, and III and if the type of abnormalities differ between different subtypes, and what percentage of patients is affected.…”

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confidence: 99%

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Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis typeIIandIII: A systematic review

et al. 2022

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Mucopolysaccharidoses (MPSs) and mucolipidosis II and III (ML II and III) often manifest with orofacial (progressive) abnormalities, which may have a major impact on quality of life. However, because these patients have multiple somatic health issues, orofacial problems are easily overlooked in clinical practice and available literature on this topic solely consists of case reports, small case series, and small cohort studies. The aim of this systematic review was to gain more insight in the nature and extent of orofacial abnormalities in MPS, ML II, and III. A systematic review of all previously published articles addressing orofacial abnormalities in MPS, ML II, and III was performed. Both clinical studies and case reports were included. Outcome was the described orofacial abnormalities, subdivided into abnormalities of the face, maxilla, mandible, soft tissues, teeth, and occlusion. The search resulted in 57 articles, describing orofacial features in 340 patients. Orofacial abnormalities were present in all subtypes of MPS, ML II, and III, and consisted of thickened lips, a hypoplastic midface, a high‐arched palate, hypoplastic condyles, coronoid hyperplasia, macroglossia, gingival hyperplasia, thick dental follicles, dentigerous cysts, misshapen teeth, enamel defects, and open bite. Orofacial abnormalities are present in all subtypes of MPS, ML II, and III. As orofacial abnormalities may cause complaints, evaluation of orofacial health should be part of routine clinical care.

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Advances in therapies for neurological lysosomal storage disorders

Ellison

Parker

Bigger

2023

J of Inher Metab Disea

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Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body. Disruption to the normal function of the lysosome can result in the toxic accumulation of storage products, often leading to irreparable cellular damage and organ dysfunction followed by premature death. The majority of LSDs have no curative treatment, with many clinical subtypes presenting in early infancy and childhood. Over two‐thirds of LSDs present with progressive neurodegeneration, often in combination with other debilitating peripheral symptoms. Consequently, there is a pressing unmet clinical need to develop new therapeutic interventions to treat these conditions. The blood–brain barrier is a crucial hurdle that needs to be overcome in order to effectively treat the central nervous system (CNS), adding considerable complexity to therapeutic design and delivery. Enzyme replacement therapy (ERT) treatments aimed at either direct injection into the brain, or using blood–brain barrier constructs are discussed, alongside more conventional substrate reduction and other drug‐related therapies. Other promising strategies developed in recent years, include gene therapy technologies specifically tailored for more effectively targeting treatment to the CNS. Here, we discuss the most recent advances in CNS‐targeted treatments for neurological LSDs with a particular emphasis on gene therapy‐based modalities, such as Adeno‐Associated Virus and haematopoietic stem cell gene therapy approaches that encouragingly, at the time of writing are being evaluated in LSD clinical trials in increasing numbers. If safety, efficacy and improved quality of life can be demonstrated, these therapies have the potential to be the new standard of care treatments for LSD patients.

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Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives

Cited by 12 publications

References 91 publications

MPS I: Early diagnosis, bone disease and treatment, where are we now?

MPS I: Early diagnosis, bone disease and treatment, where are we now?

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis typeIIandIII: A systematic review

Advances in therapies for neurological lysosomal storage disorders

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