Natural History in CCFDN and IBM Syndromes

Inclusion Body Myositis, Sporadic Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01902940
• Other study ID #: CCFDN-IBM-2013
• Secondary ID: CCFDN-IBM-2013
• Status: Completed
• Phase: N/A
• First received: July 3, 2013
• Last updated: August 31, 2015
• Start date: June 2013
• Est. completion date: October 2013

Study information

• Verified date: August 2015
• Source: Ludwig-Maximilians - University of Munich
• Contact: n/a
• Is FDA regulated: No
• Health authority: Germany: Federal Institute for Drugs and Medical Devices
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 350
• Est. completion date: October 2013
• Est. primary completion date: September 2013
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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 Design

Observational Model: Cohort, Time Perspective: Retrospective

Related Conditions & MeSH terms

• Cataract
• Congenital Abnormalities
• Congenital Cataracts, Facial Dysmorphism, And Neuropathy
• Contracture
• Inclusion Body Myopathy, Autosomal-dominant
• Inclusion Body Myopathy, Autosomal-recessive
• Inclusion Body Myositis, Sporadic
• Muscular Diseases
• Myositis, Inclusion Body
• Ophthalmoplegia

Intervention

Other:
• Natural History
Assessment of natural history in IBM and CCFDN

Locations

Country	Name	City	State
Germany	Friedrich-Baur-Institut, Ludwig-Maximilians-University of Munich	Munich	Bavaria

Sponsors (1)

Lead Sponsor	Collaborator
Ludwig-Maximilians - University of Munich

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Manual Muscle Strength assessed by Medical Research Council (MRC)	Retrospective	6-months intervals	No