Natural History in CCFDN and IBM Syndromes | NCT01902940

Studies
Natural History in CCFDN and IBM Syndromes

NCT01902940

Sponsor

Ludwig-Maximilians - University of Munich

Status

Completed

Last Update Posted

Sep 1, 2015Estimated

Enrollment

350Actual

Phase

Not provided

Conditions

Inclusion Body Myositis, Sporadic
Inclusion Body Myopathy, Autosomal-recessive
Inclusion Body Myopathy, Autosomal-dominant
Congenital Cataracts, Facial Dysmorphism, And Neuropathy

Interventions

Natural History

Countries

Germany

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
CCFDN-IBM-2013	Other Identifier	Friedrich-Baur-Institute

Status Module

Record Verification Date

Aug 2015

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 2013

Primary Completion Date

Sep 2013Actual

Completion Date

Oct 2013Actual

First Submitted Date

Jul 3, 2013

First Submission Date that Met QC Criteria

Jul 17, 2013

First Posted Date

Jul 18, 2013Estimated

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

Aug 31, 2015

Last Update Posted Date

Sep 1, 2015Estimated

Sponsor/Collaborators Module

Responsible Party, by Official Title

Maggie Walter, Professor, MD, MA, Ludwig-Maximilians - University of MunichPrincipal Investigator

Lead Sponsor

Ludwig-Maximilians - University of MunichOTHER

Collaborators

Not provided

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

So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM). Several criteria and outcome measures have led to contradicting results. The investigators want to retrospectively assess the natural course of the disease in CCFDN and IBM patients according to the data recorded during clinical routine visits.

Detailed Description

We wanted to assess the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM) over 10 years to gain new insights in both conditions.

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

No data available

No data is available for this block.

Enrollment

350Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Natural History		Assessment of natural history in IBM and CCFDN	Other: Natural History

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Natural History	Other	Assessment of natural history in IBM and CCFDN	Natural History

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Manual Muscle Strength assessed by Medical Research Council (MRC)	Retrospective	6-months intervals

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Clinical and/or genetic diagnosis of Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM)

Exclusion Criteria:

Additional neuromuscular diseases

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

Patients with CCFDN and IBM

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Maggie C Walter, MD, MA	Friedrich-Baur-Institute, Dept. of Neurology	Study Chair

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Friedrich-Baur-Institut, Ludwig-Maximilians-University of Munich		Munich	Bavaria	80336	Germany

Condition Browse Module

MeSH Terms

ID	Term
D018979	Myositis, Inclusion Body
C536816	Distal myopathy, Nonaka type
C538330	Inclusion body myopathy, autosomal dominant
C565822	Congenital Cataracts, Facial Dysmorphism, And Neuropathy

Ancestor Terms

ID	Term
D009220	Myositis
D009135	Muscular Diseases
D009140	Musculoskeletal Diseases
D009468	Neuromuscular Diseases

Browse Leaves

Not provided

Browse Branches

Not provided