Mucopolysaccharidosis II Clinical Trial
Official title:
Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population
This study is being done to learn how many children and young adults who come to pediatric rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology clinics because the first symptoms of MPS are often joint problems such as stiff joints, and rheumatologists may be the first doctors that a patient with MPS visits. The study will also evaluate the utility of dried blood spot testing for MPS.
MPS, or mucopolysaccharidosis (mew-co-paw-lee-sack-a-rid-o-sis), disorders are a group of
rare inherited diseases that affect about 1 in every 25,000 people in the United States.
There are 7 MPS disorders: MPS I (Hurler, Hurler-Scheie, and Scheie syndromes), II (Hunter
syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), VI (Maroteaux-Lamy syndrome),
VII (Sly syndrome), and IX (no other name). In people who have MPS, the body cannot break
down certain materials in the body's cells. These materials then build up in the cells,
causing problems such as stiff joints, misshapen bones, curled hands and reduced hand
function, frequent ear infections, vision and hearing problems, "thickened" facial features,
and heart problems. Getting access to diagnosis and treatment can help make MPS easier to
manage; but unfortunately, people with MPS may go undiagnosed for many years.
This study is being done to learn how many children and young adults who come to pediatric
rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the
types of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a
screening program for MPS at pediatric rheumatology clinics. This study is being done in
rheumatology clinics because the first symptoms of MPS are often joint problems such as
stiff joints, and rheumatologists may be the first doctors that a patient with MPS visits.
The study will use dried blood spot (DBS) testing to screen for these types of MPS. It will
also use a survey to evaluate the utility and convenience of dried blood spot testing for
MPS.
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