Characterization of the Patient Population With Galactosialidosis

Plain-language summary

This study aims to characterize patients with galactosialidosis (a rare lysosomal storage disorder caused by changes in the PPCA/CTSA gene). It included individuals aged 6 months and older with a suspected or confirmed molecular diagnosis. It is an observational (non-phase) study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

St. Jude Children's Research Hospital

Start date

2/8/2012

Estimated completion

4/12/2012

Countries

United States

Related genes

Locations

• Memphis, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

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

Exclusion Criteria:

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