Natural History in CCFDN and IBM Syndromes

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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Key information

Conditions

Inclusion Body Myositis, Sporadic Congenital Cataracts, Facial Dysmorphism, And Neuropathy Distal myopathy, Nonaka type Inclusion Body Myopathy, Autosomal-dominant Inclusion Body Myopathy, Autosomal-recessive Inclusion body myopathy, autosomal dominant Muscular Diseases Musculoskeletal Diseases Myositis Myositis, Inclusion Body Nervous System Diseases Neuromuscular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Friedrich-Baur-Institut, Ludwig-Maximilians-University of Munich

Munich, Bavaria, 80336, Germany

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Natural History

Other

Assessment of natural history in IBM and CCFDN

Primary outcomes

Manual Muscle Strength assessed by Medical Research Council (MRC)

Time frame: 6-months intervals

Retrospective

Sponsors and collaborators

Lead sponsor

Ludwig-Maximilians - University of Munich

Other

Registry information

Official study title

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

Important dates

Study start: 2013
Primary completion: 2013
Study completion: 2013
First posted: Jul 18, 2013
Registry last updated: Sep 1, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed