SMARD type 1

Number 190
Date 13 May 2012

Location: Naarden, The Netherlands

Workshop organisers: Dr. L. van der Pol (The Netherlands), dr. K. Von Au (Germany), dr. M. Pitt (United Kingdom) and dr. B. Talim (Turkey)

This workshop was co-funded by the Dutch Abel Schuiling Stichting


The 190th ENMC workshop titled “SMA-RD Type 1” was held in Naarden, The Netherlands, on 11-13th May 2012 with representatives from Europe, The Middle East and USA.


23 persons with different specialities, e.g. clinicians (neuropediatricians, neurologists, geneticists), researchers, patient representatives of various countries and a boy affected by SMARD1 with his parents

Aim of the workshop:

The aim of this workshop was to get an update on the clinical phenotype, outcome and management of SMARD1 patients and on the current research to establish new collaborations as the basis for the development of therapeutic strategies for the treatment of SMARD1.

What was achieved?

After exchange about the current knowledge about SMARD1 and broad discussions we agreed on the following:

-        an international SMARD1 patient registry with more detailed clinical information will be established for better genotype-phenotype relations, for recruitment of patients into clinical studies, to provide families with better predictions on outcomes and prognosis, and to compare practices for treatment and care

-        collaborations between centres will be established to exchange about research progress and to provide experimental tools for e.g. drug screening or gene transfer to develop therapeutic strategies for SMARD1 patients

A full report is published in Neuromuscular Disorders (pdf).