Chase The Signs

05.15.20

Supporting MPS Awareness Day

Today, May 15, is MPS Awareness Day. 

 
GGC has a special interest in MPS disorders, so we wanted to highlight this group of rare genetic conditions and share how we are involved in supporting
patients and families.
 

What is MPS?

MPS stands for Mucopolysaccharidosis (see why we use the abbreviation)?

MPS disorders are in a class known as lysosomal storage disorders. Lysosomes are organelles that function in each cell as a sort of recycling center. They
take in waste products of the cell, and enzymes within the lysosome break down and ‘repurpose’ those waste products so they can either be excreted
or used in other ways. If a genetic mutation prevents the body from being able to make these important enzymes, the waste products can’t be recycled
or broken down, so they become stored within the lysosome. As they accumulate, they interfere with normal cell processes which in turn cause progressive
tissue and organ damage.
 
There are several types of MPS disorders, categorized based on which enzyme is missing: 

  • MPS I (Hurler; Hurler-Scheie syndrome)
  • MPS II (Hunter syndrome)
  • MPS III (Sanfilippo syndrome, Types A, B, C, D)
  • MPS IV (Morquio syndrome)
  • MPS VI (Maroteaux-Lamy syndrome)
  • MPS VII (Sly syndrome)
  • ML II/III (Mucolipidosis, I-Cell Disease; Pseudo-Hurler Polydystrophy)

How are MPS disorders diagnosed?

As a group, MPS disorders affect approximately 1/25,000 individuals, but as with many rare diseases, that number is likely higher because of under-diagnosis
or misdiagnosis.

The clinical features vary, often making the diagnosis tricky. Some of the common findings for patients with an MPS include coarse facial features, short
stature, skeletal abnormalities, joint problems, and enlargement of the liver and spleen. Some MPS disorders also include vision problems, developmental
delays, and respiratory issues.
 
GGC’s Diagnostic Laboratories provide both screening and diagnostic testing for patients who are suspected
of having an MPS. We are also working with several pharmaceutical companies to help improve early diagnosis, as well as to support clinical trials
by monitoring how well patients are responding to the experimental treatments. 

Can they be treated?

Through enzyme replacement therapy (ERT), patients with some types of MPS can be treated with the very enzyme that is missing from their bodies.

GGC’s currently manages the care for 42 patients with MPS or other lysosomal storage disorders who are receiving ERT. ERT is not a cure, but can dramatically
improve the quality of life for patients and families.

What research is going on at GGC?

GGC’s Research Division has several projects underway to better identify the disease mechanism
for MPS disorders. GGC’s zebrafish are also in on the action as we have developed fish disease models for ML.
 
A recent grant from the National MPS Society is funding work
for GGC to better understand the significance of genetic variants in the genes that cause MPS. As many states, including SC, begin to screen all
newborns for some MPS disorders, it will be important to be able to interpret the genetic variations that are found – are they disease-causing
or not? 

#ChaseTheSigns – Improving diagnosis and understanding

GGC’s
Dr. Sara Cathey is internationally respected as one of the leaders in the clinical study
of MLII/III and is the principal investigator on a natural history study to better understand the clinical features and how the condition progresses.
 
Since early diagnosis is critical, GGC’s Division of Education is involved in educating clinical providers on how to spot MPS disorders as early as
possible. GGC, in partnership with Sanofi, has developed educational tools for advanced practice providers to help them identify and diagnose these
patients. GGC’s Metabolic Advanced Practice Provider fellowship began last year, and our trainee,
Laura Gardner, MSPAS, PA-C is working
closely with individuals with MPS and other metabolic disorders.
 
 
With GGC’s work with MPS and related disorders, we’ve become very close to the patients and families we serve through these initiatives. Many of our
faculty work with organizations including the
National MPS Society,

ISMRD, and CureSanfilippo Foundation to help advance the science and provide support for families around the world!
 
So now you know a little about MPS.
 
By raising awareness, we are moving one step closer to early diagnosis and effective treatments for all impacted by these disorders. 

 

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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