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Although there are nearly 40 different types of leukodystrophy, many are lacking in formal and comprehensive research. Most of the research so far has been done on five types: (1) metachromatic leukodystrophy (MLD), (2) Krabbe disease, (3) X-Linked adrenoleukodystrophy (ALD), (4) Canavan disease, and (5) Alexander disease.
Related disorders in the same disease spectrum as HDLS include Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy), and a type of leukodystrophy with pigment-filled macrophages called pigmentary orthochromatic leukodystrophy (POLD). [3] In addition to white matter disease, Nasu-Hakola causes bone ...
Leukoencephalopathy with neuroaxonal spheroids (LENAS), also known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) [1] is an extremely rare kind of leukoencephalopathy and is classified as a neurodegenerative disease.
Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. [5] Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, [6] the underlying biology is becoming clearer, and genetic testing is improving detection, treatment, and prevention of cancer syndromes. [7]
Orchard, which was acquired by Japanese pharmaceutical firm Kyowa Kirin for $477.6 million last year, said it will provide details on the pricing and availability of the therapy later in the week.
Atidarsagene autotemcel, sold under the brand name Libmeldy among others, is a gene therapy treatment for metachromatic leukodystrophy developed by Orchard Therapeutics.It contains an autologous CD34⁺ cell enriched population that contains haematopoietic stem and progenitor cells transduced using a lentiviral vector encoding the human arylsulfatase A (ARSA) gene.
The incidence of metachromatic leukodystrophy is estimated to occur in 1 in 40,000 to 1 in 160,000 individuals worldwide. [13] There is a much higher incidence in certain genetically isolated populations, such as 1 in 75 in Habbanites (a small group of Jews who immigrated to Israel from southern Arabia), 1 in 2,500 in the western portion of the ...
A series of cases with megalencephalic leukodystrophy were described by the Indian neurologist Bhim Sen Singhal (1933-)in 1991. [ 14 ] [ 11 ] [ 15 ] However, it is sometimes referred to as Van der Knaap disease after the Dutch neurologist Marjo van der Knaap who described another series of cases with clinical and radiological features in 1995.