Christine Lavery

Mortality in Patients with Morquio Syndrome A

BACKGROUND Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease characterized by deficient activity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age. METHODS To better understand the natural progression of the disease, life expectancy and common causes of death, death certificates were evaluated for 27 patients (15 male, 12 female) with Morquio syndrome A in the UK, covering the years 1975-2010. RESULTS Mean age at death (±standard deviation) was 25.30 ± 17.43 years, with female patients living longer than male patients (26.55 ± 12.28 years versus 22.95 ± 17.63 years, respectively). Respiratory failure was the primary cause of death in nearly two-thirds of patients (63%). Other causes of death were cardiac failure (11%), post-traumatic organ failure (11%), complications of surgery (11%) and myocardial infarction (4%). Life expectancy increased gradually over time (R (2) = 0.0963), and mean age at death due to respiratory failure improved from 17.42 ± 9.54 years in the 1980s to 30.74 ± 10.84 years in the 2000s. CONCLUSIONS The current data suggest that survival of patients with Morquio syndrome A in the UK has improved in recent decades. It is possible that improvements in multidisciplinary care and referral of patients to specialist centres underlie this trend. It is hoped that novel disease-specific treatments such as enzyme replacement therapy and haematopoietic stem cell therapy will help to extend the lifespan of patients with Morquio syndrome further still.

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

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.

The Burden Endured by Caregivers of Patients With Morquio A Syndrome: Results From an International Patient-Reported Outcomes Survey

This international survey performed by direct personal interview or mail evaluated the global burden among primary caregivers of patients with Morquio A syndrome. Collected outcomes included self-r...

Supporting the patient and family with mucopolysaccharidosis disorders: the role of patient organizations.

Support for patients with lysosomal storage diseases (LSDs) and their families is extremely important. In addition to the clear role of healthcare professionals from within the medical community, in many countries, patient organizations play an important role in supporting patients with LSDs. This summary will briefly describe the support available from such organizations based on the experience of The Society for Mucopolysaccharide Diseases (the MPS Society) in the UK, which currently represents over 1200 children and adults suffering from the MPS disorders and Fabry disease, their families, carers and professionals. Patient organizations for individuals and families affected by LSDs serve several functions. The primary aim is to offer information and support to those affected by the disease, and also to provide an educational role; enabling patients and families to feel empowered in their understanding of the disease, and the various services and treatment options available to them. As such, the remit of the advocacy support service provided in the UK by the MPS Society is to provide a needs-led service for registered patients with MPS disorders and Fabry disease, with an emphasis on enabling individuals and families to help themselves. In addition, the service liaises closely with clinicians and healthcare professionals to ensure that patients and families receive the appropriate care in a recognized centre looking after children/adults with these disorders. There is a close partnership between the medical centre caring for the patient and the patient support group. In the UK, medical care is usually managed in a centre with an expertise in LSDs. Clinicians and clinical nurse specialists from these centres act as a direct point of contact for patients and families for both medical and non-medical needs. The MPS Society provides support and information for local hospitals, including a range of publications aimed at health and social care professionals, which often prove invaluable when advocating a long-term care plan. There is also a close partnership between medical professionals, patients and the MPS Society regarding the social needs of the patient and their family. For example, we may provide support for children with special educational needs, and have assisted in the transfer of a patient to a centre for adult and paediatric patients, enabling enrolment into a clinical trial. In addition, the MPS Society facilitates patient access to appropriate health professional services, such as physiotherapy and occupational therapy. Other activities of patient organizations include raising public awareness of LSDs, encouraging and funding research, collecting epidemiological data, as well as lobbying and campaigning. Campaign themes regularly include the need for improved clinical management and patient choice, and the MPS Society has recently lobbied successfully for the provision of enzyme replacement therapy for patients with MPS I (Hurler syndrome). Registration with patient support groups is voluntary and solely the choice of the patient and their family. Information about patient support groups is typically accessed through the Internet and advice provided by professionals. In the UK, the trend is for families to contact the MPS Society of their own free will having received information from the clinician at the time of the first consultation at an expert centre. If it is deemed in the interest of the patient for information to be shared between agencies, prior informed consent is always obtained. The patients or their legal guardians are informed prior to any information being shared between the agencies. In summary, a close and effective partnership between healthcare professionals and patient organizations ensures that the complex medical and social needs of children and adults with LSDs and their families are supported adequately.