Natural History in CCFDN and IBM Syndromes

Ludwig Maximilian University of Munich

Status

Completed

Conditions

Congenital Cataracts, Facial Dysmorphism, And Neuropathy

Inclusion Body Myopathy, Autosomal-dominant

Inclusion Body Myopathy, Autosomal-recessive

Inclusion Body Myositis, Sporadic

Treatments

Other: Natural History

Study type

Observational

Funder types

Other

Identifiers

NCT01902940

CCFDN-IBM-2013 (Other Identifier)

Details and patient eligibility

About

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.

Full 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.

Enrollment

350 patients

Sex

All

Volunteers

No Healthy Volunteers

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