Natural History in CCFDN and IBM Syndromes

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

350 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-06-30

Study Completion Date

2013-10-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Natural History

Assessment of natural history in IBM and CCFDN

Natural History

Intervention Type OTHER

Assessment of natural history in IBM and CCFDN

Interventions

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Natural History

Assessment of natural history in IBM and CCFDN

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

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