Characterization of the Patient Population With Galactosialidosis

NCT ID: NCT01416467

Last Updated: 2018-10-11

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 3 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2012-02-08
• Study Completion Date: 2012-04-12

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.

Conditions

Galactosialidosis

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: OTHER

Eligibility 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.

• Minimum Eligible Age: 6 Months
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assisi Foundation

OTHER

Sponsor Role: collaborator

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

NIH

Sponsor Role: collaborator

St. Jude Children's Research Hospital

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Ulrike Reiss, MD

Role: PRINCIPAL_INVESTIGATOR

St. Jude Children's Research Hospital

Alessandra D'Azzo-Grosveld, PhD

Role: PRINCIPAL_INVESTIGATOR

St. Jude Children's Research Hospital

Locations

St. Jude Children's Research Hospital

Memphis, Tennessee, United States

Countries

United States

Related Links

http://www.stjude.org

St. Jude Children's Research Hospital

http://www.stjude.org/protocols

Clinical Trials Open at St. Jude

Other Identifiers

R01DK095169

Identifier Type: NIH

Identifier Source: secondary_id

View Link

CPPGAL

Identifier Type: -

Identifier Source: org_study_id