Genetic Characterization of Individuals With Limb Girdle... | NCT00457912

Studies
Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

NCT00457912

Sponsor

Nationwide Children's Hospital

Status

Completed

Last Update Posted

Jan 25, 2018Actual

Enrollment

277Actual

Phase

Not provided

Conditions

Limb-Girdle Muscular Dystrophy

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
NIH Grant U54AR050733

Status Module

Record Verification Date

Jan 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

Jun 2005

Primary Completion Date

Jan 1, 2018Actual

Completion Date

Jan 1, 2018Actual

First Submitted Date

Apr 6, 2007

First Submission Date that Met QC Criteria

Apr 6, 2007

First Posted Date

Apr 9, 2007Estimated

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

Jan 23, 2018

Last Update Posted Date

Jan 25, 2018Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Jerry R. Mendell, DIRECTOR CENTER FOR GENE THERAPY, Nationwide Children's HospitalPrincipal Investigator

Lead Sponsor

Nationwide Children's HospitalOTHER

Collaborators

Name	Class
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)	NIH
Muscular Dystrophy Association	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

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 objective of this study is to identify and maintain a registry of well-characterized limb-girdle muscular dystrophy (LGMD) patients. Patients seen as part of this study may be candidates for future treatment trials based on their defined genetic classification of LGMD. In the course of this study, the investigators will perform a muscle biopsy and DNA testing in an unlimited number of patients with clinically diagnosed LGMD. The genetic testing will be extended to the family of the study subject in order to better understand true genetic defect.

Detailed Description

Not provided

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

277Actual

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

any subject with clinical diagnosis of LGMD
must visit Columbus Children's Hospital for 2-day study visit
muscle biopsy tissue must be available; either from previous biopsy, affected relative, or willing to have biopsy at Columbus Children's

Exclusion Criteria:

diagnosis of a neuromuscular disorder other than LGMD
unable to provide muscle tissue from previous or current biopsy
incapable of giving consent and not having a legal guardian willing or able to do so

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

any subject with clinical diagnosis of LGMD

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Jerry R. Mendell, M.D.	Nationwide Children's Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Nationwide Children's Hospital		Columbus	Ohio	43205	United States

Condition Browse Module

MeSH Terms

ID	Term
D049288	Muscular Dystrophies, Limb-Girdle

Ancestor Terms

ID	Term
D009136	Muscular Dystrophies
D020966	Muscular Disorders, Atrophic
D009135	Muscular Diseases
D009140	Musculoskeletal Diseases

Browse Leaves

Not provided

Browse Branches

Not provided