Characterization of the Patient Population With Galactosialidosis

Completed

• Conditions: Galactosialidosis

• Registration Number: NCT01416467
• Lead Sponsor: St. Jude Children's Research Hospital

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 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.

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 information regarding their disorder. Individual patients identified through our survey of pediatric geneticists or via the disease foundations or associations will be sent a letter describing our purpose and which includes a consent form for a subsequent telephonic interview. Their medical records will also be requested.

Study Timeline

• Study First Submitted: 2011-08-11
• Study First Submitted QC: 2011-08-11
• Study First Posted: 2011-08-15
• Study Start: 2012-02-08
• Primary Completion: 2012-04-12
• Study Completion: 2012-04-12
• Status Verified: 2018-10
• Last Update Submitted: 2018-10-09
• Last Update Posted: 2018-10-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 3

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Mean, median and standard deviation of age distribution of patients with galactosialidosis.	At enrollment	The clinical and demographic data will be tabulated and analyzed for age distribution and disease manifestations with a goal of defining eligibility criteria for future therapeutic protocols.

Secondary Outcome Measures

Name	Time	Method
Number and type of PPCA gene mutations in patients with galactosialidosis.	At enrollment	The genotyping data will be tabulated and analyzed to determine the spectrum of mutations that result in the late infantile form of galactosialidosis.

Trial Locations

Locations (1)

St. Jude Children's Research Hospital; 🇺🇸 Memphis, Tennessee, United States