Characterization of the Patient Population With Galactosialidosis
Completed
Conditions studied: Galactosialidosis
In brief
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.
Key facts
- Study ID
- NCT01416467
- Run by
- St. Jude Children's Research Hospital
- People needed
- 3
- Starts
- 2012-02-08
- Expected to finish
- 2012-04-12
- Last updated by the study team
- 2018-10-11
Who can join
Age: 1 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Individuals with suspected or confirmed molecular diagnosis of galactosialidosis who are ≥ 6 months of age.
You may not qualify if…
- Individuals with a lysosomal storage disorder who have been shown to have a mutation in a gene other than that encoding PPCA.
Where it is running
- St. Jude Children's Research Hospital — Memphis, Tennessee, United States
Full record on ClinicalTrials.gov
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