Observational Study of Patients With Duchenne Muscular Dy... | NCT01385917

Studies
Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping

NCT01385917

Sponsor

Genethon

Status

Unknown status

Last Update Posted

Apr 12, 2016Estimated

Enrollment

45Estimated

Phase

Not provided

Conditions

Duchenne Muscular Dystrophy

Interventions

Not provided

Countries

France
United Kingdom

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

Status Module

Record Verification Date

Mar 2016

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 2011

Primary Completion Date

Dec 2018Estimated

Completion Date

Dec 2018Estimated

First Submitted Date

Jun 29, 2011

First Submission Date that Met QC Criteria

Jun 29, 2011

First Posted Date

Jun 30, 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

Apr 11, 2016

Last Update Posted Date

Apr 12, 2016Estimated

Name	Class
Institute of Myology	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

PreU7-53 is a natural history study. The objective is to monitor the clinical and radiological course of upper limb muscle impairment in patients with Duchenne Muscular Dystrophy (DMD), potentially treatable with AAV-mediated exon 53 skipping.

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

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

45Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
PreU7-53 is a natural history study	The objective is to monitor the clinical and radiological course of upper limb muscle impairment in patients with DMD, potentially treatable with AAV-mediated exon 53 skipping.	Every year

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Diagnosis of Duchenne muscular dystrophy confirmed by at least genetic testing, theoretically treatable by exon 53 skipping.
Age between ≥ 12 and <20 years old.
Non ambulant patients (i;e; inability to walk more than 10 meters without any of assistance).
Patients covered by a national health insurance scheme.
Signed informed consent.

Exclusion Criteria:

Patient incapable of sitting upright in a wheelchair for at least one hour.
Patients with severe intellectual impairment preventing them from fully understanding the exercises to be performed.
Recent (less than 6 months ago) upper limb surgery or trauma This criteria is however no definitive. Patients who have undergone upper limb surgery or trauma may nonetheless be enrolled once the 6 month period is over.
Known immune deficiency.
Contraindications to NMR exams

Accepts Healthy Volunteers

Sex

Male

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

12 Years

Maximum Age

20 Years

Standard Ages

ChildAdult

Study Population

Patients with theoretically exon 53 skipping-treatable DMD

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Laurent SERVAIS, MD	Myology Institute	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Myology Institute	Recruiting	Paris			France

Condition Browse Module

MeSH Terms

ID	Term
D020388	Muscular Dystrophy, Duchenne

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

Description

Total blood count with differential leukocyte count Assay of immunoglobulins and the various sub-classes (IgG, IgM, IgA, IgE) Test for immunisation against all AAV serotypes Serum urea, creatinine, AST/ALT , GammaGT, bilirubin, CK, alkalin phosphatase