Characterization of the Patient Population With Galactosialidosis (CPPGAL)

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.

Study Overview

• Status: Completed
• Conditions: Galactosialidosis

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 Type: Observational
• Enrollment (Actual): 3

Contacts and Locations

Study Locations

• United States
  • Tennessee
    • Memphis, Tennessee, United States, 38105
      • St. Jude Children's Research Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 10 months and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Individuals with suspected or diagnosed galactosialidosis.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Mean, median and standard deviation of age distribution of patients with galactosialidosis.	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.	At enrollment

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: St. Jude Children's Research Hospital
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); Assisi Foundation
• Investigators: Principal Investigator: Ulrike Reiss, MD, St. Jude Children's Research Hospital; Principal Investigator: Alessandra D'Azzo-Grosveld, PhD, St. Jude Children's Research Hospital

Publications and helpful links

Helpful Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

Study record dates

Study Major Dates

• Study Start (Actual): February 8, 2012
• Primary Completion (Actual): April 12, 2012
• Study Completion (Actual): April 12, 2012

Study Registration Dates

• First Submitted: August 11, 2011
• First Submitted That Met QC Criteria: August 11, 2011
• First Posted (Estimate): August 15, 2011

Study Record Updates

• Last Update Posted (Actual): October 11, 2018
• Last Update Submitted That Met QC Criteria: October 9, 2018
• Last Verified: October 1, 2018

More Information

Terms related to this study

• Keywords: gene transfer; AAV vector; lysosomal storage disease; disease characterization
• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases
• Other Study ID Numbers: CPPGAL; R01DK095169 (U.S. NIH Grant/Contract)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No