MedTrace Logo

Longitudinal Studies of the Glycoproteinoses

NCT01891422 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2023-09-13

No results posted yet for this study

Summary

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.

Conditions

  • Aspartylglucosaminuria
  • Fucosidosis
  • Galactosialidosis
  • Alpha Mannosidosis
  • Beta Mannosidosis
  • Mucolipidosis II
  • Mucolipidosis III
  • Schindler Disease
  • Sialidosis

Interventions

OTHER

Non-interventional.

Sponsors & Collaborators

  • Greenwood Genetic Center

    lead OTHER

Principal Investigators

  • Sara Cathey, MD · Greenwood Genetic Center

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2009-08-31
Primary Completion
2020-07-31
Completion
2020-07-31

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01891422 on ClinicalTrials.gov