Posts by: Ana Pena

News

Caring for a child with mucopolysaccharoidosis (MPS), including Sanfilippo syndrome, can affect all dimensions of a family’s life, yet parents gradually find ways to cope with the difficulties brought ... Read more

October 3, 2018October 16, 2018

Adults with MPS Disorders Not More Susceptible to Diabetes, High Cholesterol, Study Suggests

News

Adults with mucopolysaccharidosis (MPS), including MPS III, also known as Sanfilippo syndrome, have normal blood cholesterol levels and do not show a higher incidence of diabetes, despite their higher body ... Read more

June 22, 2018June 22, 2018

New Formulations Improve Properties of Substrate Reduction Therapy Compounds, Researchers Say

News

New formulations based on sugar molecules may improve the properties of candidate compounds for substrate reduction therapy to treat Sanfilippo syndrome, researchers have found. The study, “Cyclodextrin encapsulation of ... Read more

June 14, 2018June 14, 2018

Report Describes New Mutation that Led to Sanfilippo Syndrome Type B

News

Researchers have discovered a new mutation in the NAGLU gene that is associated with Sanfilippo syndrome type B. They described the mutation in a case report titled, “A novel mutation in the ... Read more

May 22, 2018May 22, 2018

Diagnostic Delays in Sanfilippo Syndrome Haven’t Improved in Nearly 3 Decades in Netherlands, Study Reports

News

The time it takes to diagnose mucopolysaccharidosis (MPS) type III, or Sanfilippo syndrome, haven’t improved in nearly three decades in the Netherlands and persists as a problem that must ... Read more

May 15, 2018May 15, 2018

Advances in Substrate Reduction Therapy Show Promise for Sanfilippo Syndrome

News

Substrate reduction therapy (SRT) shows potential in preclinical models and in clinical studies of patients with Sanfilippo syndrome. Treatment with genistein, currently being studied a Phase 3 trial, is the most promising ... Read more

April 17, 2018April 17, 2018

Genome Sequencing Reveals Sanfilippo Type B and Skeletal Dysplasia in Infant, Case Study Finds

News

Researchers have diagnosed an infant with two rare conditions, Sanfilippo syndrome type B and skeletal dysplasia, using a genetic technique that examines all protein-coding genes in the body’s cells. The finding ... Read more

March 8, 2018March 8, 2018

Enzyme Activity Test Could Help Doctors Predict Severity of Sanfilippo Type A, Study Reports

News

A test that measures cells’ sulfamidase enzyme activity could help doctors predict the severity of Sanfilippo type A, a study reports. It could also lead to Sanfilippo being added ... Read more

February 28, 2018February 28, 2018

Partners Align on Project to Decrease Time to Diagnosis for Rare Diseases

News

Shire, Microsoft and Rare Diseases Europe have formed an alliance to try to accelerate the time it takes to diagnose children with rare diseases such as Sanfilippo syndrome. Meanwhile, Shire said ... Read more

February 13, 2018February 13, 2018

BioMarin Presents Phase 1/2 Interim Results for Enzyme Replacement Therapy in Sanfilippo B Syndrome

News

BioMarin Pharmaceutical announced interim results for its Phase 1/2 trial evaluating BMN 250, an enzyme replacement therapy, for the treatment of Sanfilippo B syndrome, also called mucopolysaccharidosis IIIB. The ... Read more

Posts by: Ana Pena

Ana Pena

Study Gathers Parents’ Experiences of Caring for Children with Mucopolysaccharidosis

Adults with MPS Disorders Not More Susceptible to Diabetes, High Cholesterol, Study Suggests

New Formulations Improve Properties of Substrate Reduction Therapy Compounds, Researchers Say

Report Describes New Mutation that Led to Sanfilippo Syndrome Type B

Diagnostic Delays in Sanfilippo Syndrome Haven’t Improved in Nearly 3 Decades in Netherlands, Study Reports

Advances in Substrate Reduction Therapy Show Promise for Sanfilippo Syndrome

Genome Sequencing Reveals Sanfilippo Type B and Skeletal Dysplasia in Infant, Case Study Finds

Enzyme Activity Test Could Help Doctors Predict Severity of Sanfilippo Type A, Study Reports

Partners Align on Project to Decrease Time to Diagnosis for Rare Diseases

BioMarin Presents Phase 1/2 Interim Results for Enzyme Replacement Therapy in Sanfilippo B Syndrome

Pin It on Pinterest