Characterization of the Patient Population With Galactosialidosis

Galactosialidosis Clinical Trial

— CPPGAL  

Official title:

Characterization of the Patient Population With Galactosialidosis

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01416467
• Other study ID #: CPPGAL
• Secondary ID: R01DK095169
• Status: Completed
• Start date: February 8, 2012
• Est. completion date: April 12, 2012

Study information

• Verified date: October 2018
• Source: St. Jude Children's Research Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 3
• Est. completion date: April 12, 2012
• Est. primary completion date: April 12, 2012
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Months and older

Eligibility

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.

Related Conditions & MeSH terms

• Galactosialidosis
• Lysosomal Storage Diseases

Locations

Country	Name	City	State
United States	St. Jude Children's Research Hospital	Memphis	Tennessee

Sponsors (3)

Lead Sponsor	Collaborator
St. Jude Children's Research Hospital	Assisi Foundation, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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

External Links

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