Characterization of the Patient Population With Galactosialidosis



Status:Completed
Healthy:No
Age Range:Any
Updated:10/13/2018
Start Date:February 8, 2012
End Date:April 12, 2012

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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.

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.

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.
We found this trial at
1
site
262 Danny Thomas Pl
Memphis, Tennessee 38105
(901) 495-3300
Principal Investigator: Ulrike Reiss, MD
Phone: 866-278-5833
St. Jude Children's Research Hospital St. Jude is unlike any other pediatric treatment and research...
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