Innovative treatments such as gene therapy and enzyme replacement therapy (ERT) now exist for previously lethal rare genetic diseases of childhood and have transformed these disorders into chronic conditions extending well into adulthood. There is a global need for centers of excellence and knowledgeable subspecialists to care for adults with rare diseases. The mucopolysaccharidoses (MPSs), a group of lysosomal storages disorders occurring in about 1:25,000 births, are prime examples of such diseases since bone marrow transplantation has been performed in some types of MPS for nearly 40 years, ERT has been available for 20 years and clinical trials of gene therapy are ongoing. The MPSs are disorders of special importance to cardiologists as progressive cardiac disease occurs despite current therapies and usually in the presence of other significant co-morbidities. Recognizing the scope and trajectory of the cardiac disease within the framework of these co-morbidities influences the clinical choices made for each patient. There are marked variations globally in support for the treatment of rare diseases and appreciating governmental policies directed toward the MPSs affects the resources available to individuals with MPS. Finally, understanding the unmet needs of current therapies (ie, progressive skeletal and cardiac valve problems) directs the goals of future research.
The goal of this Research Topic is to understand the cardiac issues in adults with MPS. This will include adults who are recently diagnosed with milder types of MPS, adults who are on no treatment for MPS, adults who are currently – or have been - on ERT, and adults who have undergone bone marrow transplantation as young children. These articles will provide the cardiac team with a basic understanding of the current knowledge of incidence, pathophysiology and treatment of cardiac issues in adults with the MPSs. The scope of the topic will range from clinical reviews of current knowledge of adults with MPS with the goal of advancing this knowledge forward to those who create guidelines and policies.
Topics will include:
1) Global incidence of adult MPS, including causes of mortality and morbidity.
2) National policies directed toward rare diseases (and MPS specifically) with available national resources.
3) Cardiac pathology in adult hearts with MPS – comparison of untreated and treated individuals.
4) Non-cardiac issues in adults with MPS – including pulmonary, skeletal.
5) Neurocognitive and endocrine (reproductive) issues.
6) Cardiac issues in adults with MPS – including clinical findings, standard testing, conventional medical and surgical management.
7) Guidelines for establishing risk in adults with MPS for non-cardiac and cardiac surgeries.
8) Non-invasive imaging in adults with MPS – including echo, CT/MRI, EKG and biomarkers with unmet needs for future clinical studies.
9) Diagnosing MPS in adults from cardiac clues.
10) Cardiac response to current therapies in adults.
11) Emerging therapies for adults with MPS.
12) Mouse models of MPS for increasing understanding of pathophysiology towards the development of novel therapies.
Innovative treatments such as gene therapy and enzyme replacement therapy (ERT) now exist for previously lethal rare genetic diseases of childhood and have transformed these disorders into chronic conditions extending well into adulthood. There is a global need for centers of excellence and knowledgeable subspecialists to care for adults with rare diseases. The mucopolysaccharidoses (MPSs), a group of lysosomal storages disorders occurring in about 1:25,000 births, are prime examples of such diseases since bone marrow transplantation has been performed in some types of MPS for nearly 40 years, ERT has been available for 20 years and clinical trials of gene therapy are ongoing. The MPSs are disorders of special importance to cardiologists as progressive cardiac disease occurs despite current therapies and usually in the presence of other significant co-morbidities. Recognizing the scope and trajectory of the cardiac disease within the framework of these co-morbidities influences the clinical choices made for each patient. There are marked variations globally in support for the treatment of rare diseases and appreciating governmental policies directed toward the MPSs affects the resources available to individuals with MPS. Finally, understanding the unmet needs of current therapies (ie, progressive skeletal and cardiac valve problems) directs the goals of future research.
The goal of this Research Topic is to understand the cardiac issues in adults with MPS. This will include adults who are recently diagnosed with milder types of MPS, adults who are on no treatment for MPS, adults who are currently – or have been - on ERT, and adults who have undergone bone marrow transplantation as young children. These articles will provide the cardiac team with a basic understanding of the current knowledge of incidence, pathophysiology and treatment of cardiac issues in adults with the MPSs. The scope of the topic will range from clinical reviews of current knowledge of adults with MPS with the goal of advancing this knowledge forward to those who create guidelines and policies.
Topics will include:
1) Global incidence of adult MPS, including causes of mortality and morbidity.
2) National policies directed toward rare diseases (and MPS specifically) with available national resources.
3) Cardiac pathology in adult hearts with MPS – comparison of untreated and treated individuals.
4) Non-cardiac issues in adults with MPS – including pulmonary, skeletal.
5) Neurocognitive and endocrine (reproductive) issues.
6) Cardiac issues in adults with MPS – including clinical findings, standard testing, conventional medical and surgical management.
7) Guidelines for establishing risk in adults with MPS for non-cardiac and cardiac surgeries.
8) Non-invasive imaging in adults with MPS – including echo, CT/MRI, EKG and biomarkers with unmet needs for future clinical studies.
9) Diagnosing MPS in adults from cardiac clues.
10) Cardiac response to current therapies in adults.
11) Emerging therapies for adults with MPS.
12) Mouse models of MPS for increasing understanding of pathophysiology towards the development of novel therapies.
