MedTrace Logo

Prevalence of Fabry Disease in a Defined Population at Risk - Patients Formerly Diagnosed With Multiple Sclerosis

NCT01271699 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 250

Last updated 2021-04-09

No results posted yet for this study

Summary

The association of Multiple Sclerosis (MS) and Fabry disease is known from own clinical experiences as well as from case reports in the literature, where symptoms and suspicious results in the brain MRI led to the misdiagnosis of Fabry patients as MS. Remarkably, those patients almost never showed oligoclonal bands or an intrathecally derived IgG-production was wrongly assumed due to misinterpretation of CSF results. Where oligoclonal bands were present, concomitant diagnoses had to be discussed. Furthermore, those patients showed no involvement of the spinal cord, as evidenced by MRI. Beside the possible complications of a not-effective and not-necessary MS therapy, those patients are at risk of irreparable organ damage due to the delayed implementation of enzyme replacement therapy for Fabry disease.

Conditions

Sponsors & Collaborators

  • CENTOGENE GmbH Rostock

    lead INDUSTRY

Principal Investigators

  • Arndt Rolfs, MD · CENTOGENE GmbH Rostock

Eligibility

Min Age
18 Years
Max Age
50 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-01-31
Primary Completion
2019-12-01
Completion
2019-12-01

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01271699 on ClinicalTrials.gov