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Metabolics

Enzyme replacement therapy slows progression of CLN2 Disease

December 27, 2021

An example of a TPP1enzyme

CHOC is at the forefront to offer breakthrough enzyme replacement therapy to improve the quality of life for children with CLN2.

Related Topics
Metabolics Neurology Dr. Maija-Riika Steenari Dr. Raymond Wang CHOC Specialists

Batten disease patients highlight CHOC’s growing reputation as a destination for kids with rare conditions

April 8, 2021

Children from throughout the U.S. travel to receive CLN2 treatment at CHOC, the largest Brineura infusion center in the nation.

Related Topics
Healthcare Metabolics Neurology Rare Disease Dr. Joffre Olaya Dr. Raymond Wang CHOC Specialists Popular Research

CHOC rare disease expert stresses importance of newborn screening

September 9, 2020

CHOC is one of the state’s largest referral centers for the newborn screening program, which checks babies for many serious genetic disorders.

Related Topics
Genetics Healthcare Metabolics Rare Disease Dr. Jose Abdenur CHOC Specialists Research

CHOC joins drug trial for rare disease that devastates families

January 20, 2020

Dr. Wang and his team at CHOC are participating in a clinical trial of a drug intended to treat a rare pediatric disease called MPS IIIA.

Related Topics
Healthcare Metabolics Rare Disease Dr. Raymond Wang CHOC Specialists Research

CHOC receives $8 million to advance research for rare disorder

January 8, 2020

An $8 million gift from the Foundation of Caring will help CHOC advance research for a rare lysosomal storage disorder, Pompe Disease.

Related Topics
Healthcare Metabolics Rare Disease Dr. Raymond Wang CHOC Specialists Research

From the Nursing Frontline of the Batten Disease Battle

May 8, 2019

CHOC recently hit its second anniversary of the first Brineura infusion, a novel treatment for CLN2 disease, or late infantile Batten disease.

Related Topics
Healthcare Metabolics Rare Disease Dr. Joffre Olaya Dr. Raymond Wang CHOC Specialists
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These articles are not intended to replace the relationship you have with a physician or another healthcare practitioner. For specific medical advice, diagnoses and treatment, please consult your doctor. This website may include links to other websites which provide additional information that is consistent with the intended purpose of this publication. Linking to a non-CHOC site does not constitute an endorsement by CHOC of the sponsors or the information and products presented on the site.