Mucopolysaccharidoses Clinical Trial
Official title:
The Establishment of a Cross-specialty Collaboration Platform Among Different Medical Specialties Based on High-risk Criteria for Mucopolysaccharidosis Confirmative Diagnosis
In this study the investigators is aimed to establish the MPS screening algorithm for high risk patients who had medical history of previous surgical repair or presence of inguinal and/or umbilical hernia with combination of any ENT related surgery or examination in Taiwan.
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. In individuals with MPS disorders, have deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. Due to such an extreme variability in clinical presentation as well as wide range of disease spectrum, but insufficient MPS disease awareness in Taiwan, these resulted in a delay diagnosis or even miss diagnosis with other clinical symptom thus patient often received inappropriate treatment. In order to address the current issue of delay diagnosis among MPS patient, it is critical to develop a MPS screening algorithm for high risk patients in Taiwan. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Terminated |
NCT01675674 -
Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
|
N/A | |
| Recruiting |
NCT05063435 -
Cardiovascular Structure and Function in the Mucopolysaccharidoses
|
||
| Active, not recruiting |
NCT03632213 -
Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI
|
Phase 2 | |
| Recruiting |
NCT02583152 -
New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis
|
N/A | |
| Completed |
NCT04112602 -
Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis
|
||
| Recruiting |
NCT05354219 -
Validation and Reliability of Iris Cameras in Mucopolysaccharidoses
|
||
| Completed |
NCT01586871 -
Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
|
||
| Active, not recruiting |
NCT02699190 -
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
|
||
| Completed |
NCT04491747 -
Assessment of Factors That Affected Respiratory Parameters in Mucopolysaccharidoses Patients
|
||
| Recruiting |
NCT03047369 -
The Myelin Disorders Biorepository Project
|
||
| Not yet recruiting |
NCT04637646 -
Evaluation of Cardiac Affections in Patients With Mucopolysaccharidosis (MPS) in Assuit University Children Hospital (AUCH)
|
||
| Completed |
NCT01521429 -
Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI
|