Defining the intensity of conditioning regimens: working definitions.

conclusions Cord blood from unrelated donors appears to be an excellent source of stem cells for transplantation in patients with Hurler’s syndrome. Sustained engraftment can be achieved without total-body irradiation. Cord-blood transplantation favorably altered the natural history of Hurler’s syndrome and thus may be important to consider in young children with this form of the disease.

/pdf/cord-blood-transplants-from-unrelated-donors-in-patients-3wc372tfiv.pdf

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.

OBJECTIVE. Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (∼1 case per 100000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem cell transplantation and the recent introduction of enzyme replacement therapy for mucopolysaccharidosis I necessitate the establishment of system-specific management guidelines for this condition. METHODS. Twelve international experts on mucopolysaccharidosis I met in January 2003 to draft management and treatment guidelines for mucopolysaccharidosis I. Initial guidelines were revised and updated in 2008, on the basis of additional clinical data and therapeutic advances. Recommendations are based on our extensive clinical experience and a review of the literature. RESULTS.All patients with mucopolysaccharidosis I should receive a comprehensive baseline evaluation, including neurologic, ophthalmologic, auditory, cardiac, respiratory, gastrointestinal, and musculoskeletal assessments, and should be monitored every 6 to 12 months with individualized specialty assessments, to monitor disease progression and effects of intervention. Patients are best treated by a multidisciplinary team. Treatments consist of palliative/supportive care, hematopoietic stem cell transplantation, and enzyme replacement therapy. The patient9s age (>2 years or ≤2 years), predicted phenotype, and developmental quotient help define the risk/benefit profile for hematopoietic stem cell transplantation (higher risk but can preserve central nervous system function) versus enzyme replacement therapy (low risk but cannot cross the blood-brain barrier). CONCLUSION. We anticipate that provision of a standard of care for the treatment of patients with mucopolysaccharidosis I will optimize clinical outcomes and patients9 quality of life.

Mucopolysaccharidosis I: management and treatment guidelines.

For the past two decades, hematopoietic cell transplantation (HCT) has been used as effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) and Maroteaux-Lamy (MPS VI) syndromes, childhood-onset cerebral X-linked adrenoleukodystrophy (X-ALD), globoid-cell leukodystrophy (GLD), metachromatic leukodystrophy (MLD), alpha-mannosidosis, osteopetrosis, and others. Careful pre-HCT evaluation is critical and coordinated, multidisciplinary follow-up is essential in this field of transplantation. The primary goals of HCT for these disorders have been to promote long-term survival with donor-derived engraftment and to optimize the quality of life. Guidelines for HCT and monitoring are provided; a brief overview of long-term results is also presented.

Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines.

Although the first description of a lysosomal storage disorder was that of Tay-Sachs disease in 1881, the lysosome was not discovered until 1955, by Christian De Duve. The first demonstration by Hers in 1963 of a link between an enzyme deficiency and a storage disorder (Pompe's disease) paved the way for a series of seminal discoveries about the intracellular biology of these enzymes and their substrates, culminating in the successful treatment of Gaucher's disease with beta-glucosidase in the early 1990s. It is now recognized that these disorders are not simply a consequence of pure storage, but result from perturbation of complex cell signalling mechanisms. These in turn give rise to secondary structural and biochemical changes, which have important implications for therapy. Significant challenges remain, particularly the treatment of central nervous system disease. It is hoped that recent advances in our understanding of lysosomal biology will enable successful therapies to be developed.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2141.2004.05293.x

Lysosomal storage disorders.

The synovial tissue is an immunologically challenging environment where, under homeostatic conditions, highly specialized subsets of immune-regulatory macrophages and fibroblasts constantly prevent synovial inflammation in response to cartilage- and synovial fluid-derived danger signals that accumulate in response to mechanical stress. During inflammatory joint diseases, this immune-regulatory environment becomes perturbed and activated synovial fibroblasts and infiltrating immune cells start to contribute to synovial inflammation and joint destruction. This review summarizes our current understanding of the phenotypic and molecular characteristics of resident synovial macrophages and fibroblasts and highlights their crosstalk during joint homeostasis and joint inflammation, which is increasingly appreciated as vital to understand the molecular basis of prevalent inflammatory joint diseases such as rheumatoid arthritis.

/pdf/synovial-macrophage-and-fibroblast-heterogeneity-in-joint-7oad1kg9.pdf

Synovial Macrophage and Fibroblast Heterogeneity in Joint Homeostasis and Inflammation

Summary Twenty-four patients have received bone marrow transplantation for severe aplastic anaemia at the Westminster Hospitals since 1974. Twelve patients are long term survivors. Infectious complications in association with graft rejection, graft versus host disease or prolonged neutropenia were the major cause of death. In the last 18 months the introduction of more effective conditioning regimes and Cyclosporin A as graft versus host disease prophylaxis has improved the survival rate to 85%. One patient has required regrafting for late graft failure without evidence of graft rejection.

Bone marrow transplantation for severe aplastic anaemia a review of the Westminster experience of 24 cases

A one-year-old boy with type I H mucopoly saccharidosis (Hurler's disease) was given a bone-marrow transplant (BMT) from his mother in an attempt to replace the deficient enzyme, alpha-L-iduronidase (iduronidase). There is definite evidence of engraftment, the enzyme activity of the recipient's leucocytes reaching heterozygote levels within 37 days of the BMT. Graft-versus-host disease (GVHD) developed but was partially controlled by steroids. From 3-4 months after graft until the present (13 months after the graft) iduronidase activity has been present in the serum and the urine and there has been evidence of considerable degradation of glycosaminoglycans excreted in the urine. The hepatosplenomegaly has disappeared, corneal clouding has cleared, and deterioration in the child's development seems to have been arrested.

Reversal of clinical features of hurler's disease and biochemical improvement after treatment by bone marrow transplantation

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Synovial Macrophage and Fibroblast Heterogeneity in Joint Homeostasis and Inflammation

Bone marrow transplantation for severe aplastic anaemia a review of the Westminster experience of 24 cases

Reversal of clinical features of hurler's disease and biochemical improvement after treatment by bone marrow transplantation