Characterization of the Patient Population With Galactosialidosis

NCT01416467 | Completed

• 2 other identifiers: CPPGALR01DK095169
• Study Type: observational
• Target: 3
• Locations: 1 country
• Sites: 1

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.

Conditions

Galactosialidosis

Keywords

lysosomal storage disease; AAV vector; gene transfer; disease characterization

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Number and type of PPCA gene mutations in patients with galactosialidosis.

  At enrollment

Eligibility Criteria

• Age: 6 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with suspected or diagnosed galactosialidosis.

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.

Sponsors & Collaborators

• St. Jude Children's Research Hospital: lead
• Assisi Foundation: collaborator
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator

Study Sites (1)

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

Location

Related Links

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

Biospecimen

Retention: SAMPLES WITH DNA

Blood for PPCA gene mutation and AAV2 and AAV8 antibody titer

MeSH Terms

Conditions

Neuraminidase deficiency with beta-galactosidase deficiency; Lysosomal Storage Diseases

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Ulrike Reiss, MD

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

• Alessandra D'Azzo-Grosveld, PhD

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 11, 2011
• First Posted: August 15, 2011
• Study Start: February 8, 2012
• Primary Completion: April 12, 2012
• Study Completion: April 12, 2012
• Last Updated: October 11, 2018

Record last verified: 2018-10

Locations

US (1)