Characterization of the Patient Population With Galactosialidosis (CPPGAL)

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by St. Jude Children's Research Hospital
Sponsor:
Collaborators:
Assisi Foundation
Information provided by (Responsible Party):
St. Jude Children's Research Hospital
ClinicalTrials.gov Identifier:
NCT01416467
First received: August 11, 2011
Last updated: July 22, 2014
Last verified: July 2014
  Purpose

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.


Condition
Galactosialidosis

Study Type: Observational
Study Design: Observational Model: Case-Only
Official Title: Characterization of the Patient Population With Galactosialidosis

Resource links provided by NLM:


Further study details as provided by St. Jude Children's Research Hospital:

Primary Outcome Measures:
  • Mean, median and standard deviation of age distribution of patients with galactosialidosis. [ Time Frame: At enrollment ] [ Designated as safety issue: No ]
    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:
  • Number and type of PPCA gene mutations in patients with galactosialidosis. [ Time Frame: At enrollment ] [ Designated as safety issue: No ]
    The genotyping data will be tabulated and analyzed to determine the spectrum of mutations that result in the late infantile form of galactosialidosis.


Biospecimen Retention:   Samples With DNA

Blood for PPCA gene mutation and AAV2 and AAV8 antibody titer


Estimated Enrollment: 35
Study Start Date: December 2011
Estimated Study Completion Date: July 2017
Estimated Primary Completion Date: July 2015 (Final data collection date for primary outcome measure)
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.

  Eligibility

Ages Eligible for Study:   6 Months and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Individuals with suspected or diagnosed galactosialidosis.

Criteria

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01416467

Contacts
Contact: Alessandra D'Azzo-Grosveld, PhD 1-866-278-5833 info@stjude.org
Contact: Arthur W. Nienhuis, MD 1-866-278-5833 info@stjude.org

Locations
United States, Tennessee
St. Jude Children's Research Hospital Recruiting
Memphis, Tennessee, United States, 38105
Contact: Alessandra D'Azzo-Grosveld, PhD    866-278-5833    info@stjude.org   
Contact: Arthur W. Nienhuis, MD    1-866-278-5833    info@stjude.org   
Principal Investigator: Arthur W Nienhuis, MD         
Sub-Investigator: Alessandra D'Azzo-Grosveld, PhD         
Sponsors and Collaborators
St. Jude Children's Research Hospital
Assisi Foundation
Investigators
Principal Investigator: Arthur W. Nienhuis, MD St. Jude Children's Research Hospital
Principal Investigator: Alessandra D'Azzo-Grosveld, PhD St. Jude Children's Research Hospital
  More Information

Additional Information:
No publications provided

Responsible Party: St. Jude Children's Research Hospital
ClinicalTrials.gov Identifier: NCT01416467     History of Changes
Other Study ID Numbers: CPPGAL, R01DK095169
Study First Received: August 11, 2011
Last Updated: July 22, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by St. Jude Children's Research Hospital:
lysosomal storage disease
AAV vector
gene transfer
disease characterization

Additional relevant MeSH terms:
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on August 27, 2014