Natural History in CCFDN and IBM Syndromes

August 31, 2015 updated by: Maggie Walter, Ludwig-Maximilians - University of Munich

Retrospective Cohort Study Assessing the Natural Course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and Sporadic and Hereditary Inclusion Body Myopathies (IBM)

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.

Study Overview

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.

Study Type

Observational

Enrollment (Actual)

350

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Bavaria
      • Munich, Bavaria, Germany, 80336
        • Friedrich-Baur-Institut, Ludwig-Maximilians-University of Munich

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with CCFDN and IBM

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Natural History
Assessment of natural history in IBM and CCFDN
Assessment of natural history in IBM and CCFDN

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Study Chair: Maggie C Walter, MD, MA, Friedrich-Baur-Institute, Dept. of Neurology

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2013

Primary Completion (Actual)

September 1, 2013

Study Completion (Actual)

October 1, 2013

Study Registration Dates

First Submitted

July 3, 2013

First Submitted That Met QC Criteria

July 17, 2013

First Posted (Estimate)

July 18, 2013

Study Record Updates

Last Update Posted (Estimate)

September 1, 2015

Last Update Submitted That Met QC Criteria

August 31, 2015

Last Verified

August 1, 2015

More Information

Terms related to this study

Other Study ID Numbers

  • CCFDN-IBM-2013 (Other Identifier: Friedrich-Baur-Institute)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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