Sanfilippo's syndrome

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Sanfilippo's syndrome

[san·fə′lip·ōz ‚sin‚drōm]
(medicine)
A hereditary metabolic disorder, transmitted as an autosomal recessive, characterized by excessive amounts of heparitin sulfate in the urine, and manifested by minor skeletal changes and slight hepatomegaly.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
The FDA has advised Seelos that it may proceed with the proposed clinical trial SLS-005-201 for Mucopolysaccharidosis type III (Sanfilippo syndrome).
* Seelos Therapeutics, Inc.(NASDAQ: SEEL) climbed 7.9% to close at $1.78 after the company announced FDA acceptance of IND application for SLS-005 for Mucopolysaccharidosis Type III Sanfilippo Syndrome.
The analysts estimate peak sales for SLS-005 in Sanfilippo Syndrome in the US to be $423.5 million based on estimates of 4,600 patients, with an 80% diagnosis rate, and assuming a 2022 launch in the US market, with an initial market penetration rate of 2% growing to 40% by 2028.
"We have made tremendous progress on multiple programs," emphasized Raj Mehra, Ph.D., Chairman and CEO of Seelos Therapeutics, "progressing with the initiation of a potentially pivotal study for SLS-005 in a broad spectrum of Sanfilippo syndrome A and B patients and including the C and D type patients in an expanded access program is a great achievement in an indication with paucity of therapeutic choices.
He was transferred to Birmingham Children's Hospital where tests revealed he had Type 3 MPS, known as Sanfilippo syndrome.
Reggie Griffiths was diagnosed with incurable Sanfilippo syndrome after mum Rebecca, 25, became concerned about his development six months ago.
Washington DC, [USA] July 07 ( ANI ): Hollywood celebrities Oprah Winfrey, Katy Perry, Mark Wahlberg and others helped raise USD 1 million to help a child get treatment for the fatal disease Sanfilippo syndrome (Childhood syndrome).
Sanfilippo syndrome is a devastating genetic disorder which affects about one in 85,000 people.
Abeona's lead programs include EB-101 (gene-corrected skin grafts) for recessive dystrophic epidermolysis bullosa (RDEB), ABO-102 (AAV-SGSH), an adeno-associated virus (AAV) based gene therapy for Sanfilippo syndrome type A (MPS IIIA) and ABO-101 (AAV-NAGLU), an adeno-associated virus (AAV) based gene therapy for Sanfilippo syndrome type B (MPS IIIB).
Clinicopathological diagnosis of mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B), an inherited autosomal recessive lysosomal storage disease, as a cause of losses in a commercial emu flock and screening breeders using a mutation-specific DNA test are described.