Characterization of the Patient Population With Galactosi... | NCT01416467

Studies
Characterization of the Patient Population With Galactosialidosis

NCT01416467

Sponsor

St. Jude Children's Research Hospital

Status

Completed

Last Update Posted

Oct 11, 2018Actual

Enrollment

3Actual

Phase

Not provided

Conditions

Galactosialidosis

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
R01DK095169	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Oct 2018

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 8, 2012Actual

Primary Completion Date

Apr 12, 2012Actual

Completion Date

Apr 12, 2012Actual

First Submitted Date

Aug 11, 2011

First Submission Date that Met QC Criteria

Aug 11, 2011

First Posted Date

Aug 15, 2011Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Oct 9, 2018

Last Update Posted Date

Oct 11, 2018Actual

Name	Class
Assisi Foundation	OTHER
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

3Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Measure	Description	Time Frame
Number and type of PPCA gene mutations in patients with galactosialidosis.	The genotyping data will be tabulated and analyzed to determine the spectrum of mutations that result in the late infantile form of galactosialidosis.	At enrollment

Other Outcomes

Not provided

Eligibility Module

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

6 Months

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Individuals with suspected or diagnosed galactosialidosis.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Ulrike Reiss, MD	St. Jude Children's Research Hospital	Principal Investigator
Alessandra D'Azzo-Grosveld, PhD	St. Jude Children's Research Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
St. Jude Children's Research Hospital		Memphis	Tennessee	38105	United States

References Module

Citations

Not provided

ID	Term
C536411	Neuraminidase deficiency with beta-galactosidase deficiency
D016464	Lysosomal Storage Diseases

ID	Term
D008661	Metabolism, Inborn Errors
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D008659	Metabolic Diseases

Label	URL
St. Jude Children's Research Hospital	View source
Clinical Trials Open at St. Jude	View source