P.107 - SMA registry in Russia

Abstract

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder with progressive loss of motor neurons in anterior horns of the spinal cord and progressive muscle wasting that leads to early death due to respiratory failure. We present SMA registry in Russian Federation that was hold by SMA Family Foundation and Russian Children Neuromuscular Center. To the date registry includes data of 370 patients with SMA. By the types they distributed as follows: type 1 (Werdnig-Hoffmann disease) – 96 patients, type 2 (Dubowitz disease) – 180 patients, type 3 (Kugelberg-Welander disease)– 74 patients and distal SMA – 20 patients. 18 patients with distal SMA are not genotyped. All patients with SMN1 SMA are confirmed genetically with the deletion of exon 7, but only 70 of them are tested for number of copies of SMN2 gene. There was found an exon 7 deletion of SMN1 gene and a point mutation in another SMN1 gene in 7 patients. So there are 18 patients with SMA I type (10 patients has 2 copies and 8 has 3 copies); 37 patients with SMA II type (1 patient has 1 copy, 4 has 2 copies, 26 has 3 copies, 6 has 4 copies); 15 patients with SMA III type (1 patient with 2 copies, 7 with 3 copies, 4 has 4 copies, 3 has 5 copies). We have 51 patients with SMA I/II types who have tracheostomy and are using invasive ventilation support, 24 patients are using BiPAP frequently and 43 patients are using cough assist devices. Motor development in SMA patients in Russian Children Neuromuscular Center is usually assessed with validation functional scales: CHOP INTEND for SMA type I and Hammersmith Functional Motor Scale for patients with SMA types II and III. SMA Family Foundation provides standards of care for patients with SMA. Great number of SMA patients in Russia may be of great interest to pharmaceutical companies who develops new drugs to treat spinal muscular atrophy.