Characterization of the Patient Population With Galactosialidosis (CPPGAL)
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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 |
- 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.
- 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 2014 (Final data collection date for primary outcome measure) |
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 |
Individuals with suspected or diagnosed galactosialidosis.
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| Contact: Arthur W. Nienhuis, MD | 1-866-278-5833 | info@stjude.org |
| United States, Tennessee | |
| St. Jude Children's Research Hospital | Recruiting |
| Memphis, Tennessee, United States, 38105 | |
| Contact: Arthur W Nienhuis, MD 866-278-5833 info@stjude.org | |
| Principal Investigator: Arthur W Nienhuis, MD | |
| Principal Investigator: | Arthur W. Nienhuis, MD | 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: | May 23, 2013 |
| 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 May 23, 2013