Longitudinal Studies of the Glycoproteinoses

Completed

Conditions studied: Aspartylglucosaminuria, Fucosidosis, Galactosialidosis, Alpha Mannosidosis, Beta Mannosidosis, Mucolipidosis II, Mucolipidosis III, Schindler Disease, Sialidosis

In brief

The glycoproteinoses are among the most rare and least researched of the lysosomal diseases. The diseases include aspartylglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease, and sialidosis. Longitudinal studies of these conditions are needed in order to better define how common the diseases are, identify clinical features which could contribute to early diagnoses, detail progression of the diseases, assess the supportive therapies currently used, and identify potential treatments. Laboratory tests will evaluate metabolic and genetic defects found in participants' blood and urine samples.

Key facts

Study ID

NCT01891422

Run by

Greenwood Genetic Center

People needed

100

Starts

2009-08-01

Expected to finish

2020-07-01

Last updated by the study team

2023-09-13

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Be an individual of any age diagnosed with one of the following conditions
• Aspartylglucosaminuria
• Fucosidosis
• Galactosialidosis
• alpha mannosidosis
• beta mannosidosis
• Mucolipidosis II
• Mucolipidosis III
• Schindler disease
• Sialidosis

You may not qualify if…

• not diagnosed with one of the nine glycoproteinoses listed above.

Where it is running

• Greenwood Genetic Center — North Charleston, South Carolina, United States

Full record on ClinicalTrials.gov

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