San Filippo News

May 28, 2020May 28, 2020

Cure Sanfilippo Grants $380,000 to Type C Gene Therapy Development

San Filippo News

Cure Sanfilippo Foundation has granted $380,000 to the New York-based biotechnology company Phoenix Nest to support the development of the first-ever gene therapy to treat children with the rare genetic ... Read more

May 21, 2020May 21, 2020

SLS-005 Granted FDA’s Rare Pediatric Disease Designation for Sanfilippo

San Filippo News

The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease designation to Seelos Therapeutics‘ SLS-005 (trehalose) to treat Sanfilippo syndrome, the company has announced. The designation is granted to product applications for diseases ... Read more

May 14, 2020May 14, 2020

RDMD Secures $14M in Financing to Expand Platform for Sanfilippo, Other Rare Disorders

San Filippo News

Healthcare technology company RDMD has raised $14 million to further expand its platform seeking to accelerate research and treatment development for rare diseases, including Sanfilippo syndrome. The Series A financing ... Read more

May 7, 2020May 7, 2020

FDA Grants Orphan Drug Status to SLS-005 for Treating Sanfilippo

San Filippo News

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Seelos Therapeutics‘ SLS-005 (trehalose) to treat Sanfilippo syndrome, the company has announced. Orphan drug designation aims to encourage the development ... Read more

May 4, 2020May 5, 2020

How Does Sanfilippo Syndrome Differ From Other MPS Types?

San Filippo News

Sanfilippo syndrome is a type of mucopolysaccharidosis (MPS), which are lysosomal storage disorders. The lysosome is a compartment within cells that functions as the “garbage collectors,” collecting cellular waste and ... Read more

April 30, 2020April 30, 2020

1st Patient Dosed in Trial of Gene Therapy, OTL-201, for Sanfilippo Type A

San Filippo News

Orchard Therapeutics announced the dosing of a first patient in a clinical trial evaluating its investigational cell-based gene therapy OTL-201 for Sanfilippo syndrome type A. OTL-201’s safety, tolerability, and efficacy is ... Read more

April 27, 2020April 28, 2020

Carpal Tunnel Syndrome in Children With Sanfilippo Syndrome

San Filippo News

Sanfilippo syndrome is a rare progressive disease that affects the nerve cells. The disease can cause a condition known as carpal tunnel syndrome, among other symptoms. What is carpal tunnel ... Read more

April 24, 2020April 24, 2020

Finding the Silver Linings in Heartbreaking Moments

San Filippo News

My 74-year-old mom unexpectedly passed away two weeks ago. It is still surreal to even type that statement. She was such an important presence in my life and my family’s ... Read more

April 23, 2020April 23, 2020

Stem Cell Transplant Helped Girl with Sanfilippo, Case Study Shows

San Filippo News

An 11-year-old girl with Sanfilippo syndrome type A who received a stem cell transplant as an infant maintained her cognitive skills and motor function, and improved her quality of life ... Read more

April 22, 2020April 22, 2020

Finding Your Home Base in an Uncertain World

San Filippo News

My favorite part of writing columns for Sanfilippo News is the opportunity to reach people both in and outside of the Sanfilippo community. In this quarantine, we’re all sort of ... Read more

April 21, 2020April 21, 2020

Axovant, Invitae Offering Free Genetic Testing, Counseling for Lysosomal Storage Diseases

San Filippo News

Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease. The Axovant sponsorship ... Read more

April 21, 2020April 21, 2020

Making Every Doctor Visit Count When Your Child Has Sanfilippo Syndrome

San Filippo News

When your child is diagnosed with a rare genetic disorder such as Sanfilippo syndrome, it can be difficult to effectively express concerns to physicians. You may be overwhelmed by the ... Read more

April 16, 2020April 16, 2020

Morquio A Syndrome May Be Most Common MPS in Mexico, Study Finds

San Filippo News

Mucopolysaccharidosis (MPS) type IVA (Morquio A syndrome) is the most common type of MPS in Mexico, followed by MPS type III (Sanfilippo syndrome), according to five-year data of enzymatic activity tests ... Read more

April 10, 2020April 14, 2020

The Sanfilippo Syndrome Patient Registry and Why It Is Important

San Filippo News

If your child has Sanfilippo syndrome or mucolipidosis (ML), it is very important that you register them with the Connect MPS Patient Registry. Among other things, your information ultimately could ... Read more

April 9, 2020April 9, 2020

Single Screening of Newborns for 8 Lysosomal Storage Diseases, Including MPS, Possible

San Filippo News

Researchers have developed an efficient way of screening newborns for eight lysosomal storage diseases — including five mucopolysaccharidosis (MPS) disorders — at the same time, a large Taiwanese study shows. The work suggests that ... Read more