Status:

COMPLETED

Characterization of the Patient Population With Galactosialidosis

Lead Sponsor:

St. Jude Children's Research Hospital

Collaborating Sponsors:

Assisi Foundation

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Conditions:

Galactosialidosis

Eligibility:

All Genders

6+ years

Brief Summary

The late infantile form of galactosialidosis is potentially amenable to treatment by gene transfer with an adeno-associated viral vector encoding Protective Protein Cathepsin A (PPCA) or by infusion o...

Detailed Description

Individual patient/families will be interviewed by telephone to learn basic demographic information and disease status. Medical records will be requested from primary care providers to provide further...

Eligibility Criteria

Inclusion

  • Individuals with suspected or confirmed molecular diagnosis of galactosialidosis who are ≥ 6 months of age.

Exclusion

  • Individuals with a lysosomal storage disorder who have been shown to have a mutation in a gene other than that encoding PPCA.

Key Trial Info

Start Date :

February 8 2012

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

April 12 2012

Estimated Enrollment :

3 Patients enrolled

Trial Details

Trial ID

NCT01416467

Start Date

February 8 2012

End Date

April 12 2012

Last Update

October 11 2018

Active Locations (1)

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1

St. Jude Children's Research Hospital

Memphis, Tennessee, United States, 38105