Natural History in CCFDN and IBM Syndromes

This study is enrolling participants by invitation only.
Sponsor:
Information provided by (Responsible Party):
Maggie Walter, Ludwig-Maximilians - University of Munich
ClinicalTrials.gov Identifier:
NCT01902940
First received: July 3, 2013
Last updated: July 17, 2013
Last verified: July 2013
  Purpose

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

Study Type: Observational
Study Design: 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)

Resource links provided by NLM:


Further study details as provided by Ludwig-Maximilians - University of Munich:

Primary Outcome Measures:
  • Manual Muscle Strength assessed by Medical Research Council (MRC) [ Time Frame: 6-months intervals ] [ Designated as safety issue: No ]
    Retrospective


Estimated Enrollment: 350
Study Start Date: June 2013
Estimated Study Completion Date: August 2013
Estimated Primary Completion Date: July 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Natural History
Assessment of natural history in IBM and CCFDN
Other: Natural History
Assessment of natural history in IBM and CCFDN

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.

  Eligibility

Genders Eligible for Study:   Both
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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
  More Information

No publications provided

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
Study First Received: July 3, 2013
Last Updated: July 17, 2013
Health Authority: Germany: Federal Institute for Drugs and Medical Devices

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

ClinicalTrials.gov processed this record on October 01, 2014