Natural History in CCFDN and IBM Syndromes

N/ACompletedNCT01902940

Ludwig-Maximilians - University of Munich350 enrolled

Overview

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.

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

Enrollment

350

Conditions

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

Interventions

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Manual Muscle Strength assessed by Medical Research Council (MRC)

Retrospective

Time frame: 6-months intervals