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Natural History in CCFDN and IBM Syndromes

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ClinicalTrials.gov Identifier: NCT01902940
Recruitment Status : Completed
First Posted : July 18, 2013
Last Update Posted : September 1, 2015
Sponsor:
Information provided by (Responsible Party):
Maggie Walter, Ludwig-Maximilians - University of Munich

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.

Condition or disease Intervention/treatment
Inclusion Body Myositis, Sporadic Inclusion Body Myopathy, Autosomal-recessive Inclusion Body Myopathy, Autosomal-dominant Congenital Cataracts, Facial Dysmorphism, And Neuropathy Other: Natural History

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
Actual Enrollment : 350 participants
Observational Model: Cohort
Time Perspective: Retrospective
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)
Study Start Date : June 2013
Actual Primary Completion Date : September 2013
Actual Study Completion Date : October 2013


Group/Cohort Intervention/treatment
Natural History
Assessment of natural history in IBM and CCFDN
Other: Natural History
Assessment of natural history in IBM and CCFDN




Primary Outcome Measures :
  1. Manual Muscle Strength assessed by Medical Research Council (MRC) [ Time Frame: 6-months intervals ]
    Retrospective



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with CCFDN and IBM
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01902940


Locations
Germany
Friedrich-Baur-Institut, Ludwig-Maximilians-University of Munich
Munich, Bavaria, Germany, 80336
Sponsors and Collaborators
Ludwig-Maximilians - University of Munich
Investigators
Study Chair: Maggie C Walter, MD, MA Friedrich-Baur-Institute, Dept. of Neurology

Responsible Party: Maggie Walter, Professor, MD, MA, Ludwig-Maximilians - University of Munich
ClinicalTrials.gov Identifier: NCT01902940     History of Changes
Other Study ID Numbers: CCFDN-IBM-2013
CCFDN-IBM-2013 ( Other Identifier: Friedrich-Baur-Institute )
First Posted: July 18, 2013    Key Record Dates
Last Update Posted: September 1, 2015
Last Verified: August 2015

Additional relevant MeSH terms:
Cataract
Muscular Diseases
Myositis
Myositis, Inclusion Body
Congenital Abnormalities
Nervous System Diseases
Craniofacial Abnormalities
Contracture
Ophthalmoplegia
Lens Diseases
Eye Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Musculoskeletal Abnormalities
Joint Diseases
Ocular Motility Disorders
Cranial Nerve Diseases
Paralysis
Neurologic Manifestations
Signs and Symptoms