Sanfilippo's syndrome

(redirected from Sanfilippo syndrome)
Also found in: Medical, Wikipedia.

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.
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.