Clinical trial NCT01416467: Characterization of the Patient Population With Galactosialidosis
Official title: Characterization of the Patient Population With Galactosialidosis
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Galactosialidosis
Keywords: lysosomal storage disease
AAV vector
gene transfer
disease characterization
Lead sponsor: St. Jude Children's Research Hospital
Sponsor class: OTHER
Collaborators: name: Assisi Foundation
name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
First posted: 2011-08-15
Enrollment: 3
Sex: ALL
Minimum age (years): 6
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with suspected or diagnosed galactosialidosis.

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.

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.

Primary outcomes:
measure: Mean, median and standard deviation of age distribution of patients with galactosialidosis.
timeFrame: At enrollment
Secondary outcomes:
measure: Number and type of PPCA gene mutations in patients with galactosialidosis.
timeFrame: At enrollment
Other outcomes:
Locations:
city: Memphis
country: United States
facility: St. Jude Children's Research Hospital
state: Tennessee
Study officials:
affiliation: St. Jude Children's Research Hospital
name: Ulrike Reiss, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: St. Jude Children's Research Hospital
name: Alessandra D'Azzo-Grosveld, PhD
role: PRINCIPAL_INVESTIGATOR
References: