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Characterization of the Patient Population With Galactosialidosis

NCT01416467 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 3

Last updated 2018-10-11

No results posted yet for this study

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 of purified protein. The published literature contains limited descriptions of the disease nor is it known how many patients with the disorder are potentially available for protocol enrollment. This preliminary study is designed to define the demographics and clinical characteristics of the patient population with galactosialidosis. Individuals for whom DNA diagnosis has been performed at St. Jude Children's Research Hospital (SJCRH) will be contacted telephonically to learn their current status. In addition, a letter requesting information regarding patients with galactosialidosis will be sent to all pediatric geneticists throughout the United States. Selected physicians with expertise in lysosomal storage diseases throughout the world will also be contacted. Foundations and Associations for the lysosomal storage disorders will also be contacted in an effort to identify additional potential patients with galactosialidosis. The information to be collected in this preliminary study will facilitate development of specific eligibility criteria for future therapeutic studies.

Conditions

  • Galactosialidosis

Sponsors & Collaborators

Principal Investigators

  • Ulrike Reiss, MD · St. Jude Children's Research Hospital

  • Alessandra D'Azzo-Grosveld, PhD · St. Jude Children's Research Hospital

Eligibility

Min Age
6 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-02-08
Primary Completion
2012-04-12
Completion
2012-04-12

Countries

  • United States

Study Locations

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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 NCT01416467 on ClinicalTrials.gov