Introduction to Mucopolysaccharidosis Type I
A video from a US Rare Medical Science Liaison discussing MPS I epidemiology, inheritance, manifestations, and diagnosis.
New to Molecular Testing?
This 4-minute video illustrates the path a healthcare provider takes when ordering diagnostic testing for a lysosomal storage disease for the first time.
WORLD 2020 - Sanofi MPS I Symposium
In this recorded symposium, Dr. Lorne A. Clarke (University of British Columbia, Vancouver, BC) reviewed the genotype-phenotype relationships in patients with MPS I in the era of newborn screening. The following topics were discussed:
MPS I 101
An overview of MPS I, including epidemiology, inheritance, pathophysiology, disease spectrum, common symptoms and manifestations, methods of diagnosis, and screening and disease registry resources for providers.
Schedule of Assessments
A summary of the recommended minimum evaluation schedule for MPS I based on peer-reviewed publications.
MPS I Diagnosis
For more information on testing for MPS I, including incidence, patient classification, evaluations for diagnosis, and a selection of laboratories offering both MPS I enzyme assay (α-L-Iduronidase) and IDUA sequencing and those offering an MPS enzyme panel, click to open our full testing brochure.
This is not an exhaustive list, or an endorsement of any one lab. Other testing options can be found at https://www.concertgenetics.com (free login required) or https://ww.ncbi.nlm.nih.gov/gtr. Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi of information provided by any other organizations. Tests may not be available in all states. Please contact the laboratory to confirm test availability, sample shipping information, and all other logistics.
Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi of information provided by any other organizations.
MPS Society: http://www.mpssociety.org
National Organization for Rare Disorders: https://rarediseases.org/rare-diseases/mucopolysaccharidosis-type-i
Concert Genetics (free login required): www.concertgenetics.com
Genetic Home Reference: https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i
The goal of the MPS I Registry is to collect clinical data on people with MPS I disease around the world in an effort to foster better understanding of MPS I disease and its management. Specifically, the Registry tracks information on patient demographics, disease characteristics, treatment goals, and outcomes.
Within your individual practice, the Registry’s patient case report (PCR) section allows you to monitor each of your patient's disease progress and response to therapy. The reports graphically summarize the changes in clinical parameters, such as organ volume over time and responses to disease management.
For more information on The MPS I Registry, visit our website at https://www.registrynxt.com/.
Next in MPS I