Neuropediatrics 2018; 49(S 02): S1-S69
DOI: 10.1055/s-0038-1676020
Posters
Therapy Strategies and Free Topics
Georg Thieme Verlag KG Stuttgart · New York

P 960. Intrathecal Administration of Nusinersen in Patients with SMA: Experience and Challenges—A Single-Center Report

Deike Weiss
1  Universitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg, Germany
,
Jonas Denecke
1  Universitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg, Germany
,
Joenna Driemeyer
1  Universitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg, Germany
,
Jessika Johannsen
1  Universitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
30 October 2018 (online)

 

Backround: Nusinersen (Spinraza) is an antisense oligonucleotid. In October 2016, it became available for the treatment via intrathecal administration for patients with 5q-associated spinal muscular atrophy (SMA) Type 1 in Germany in an early open access program. In May 2017, the medication was approved for all types of 5q-associated SMA.

The intrathecal administration in these patients can be challenging due to respiratory instability as well as scoliosis, both of which are typical complications in SMA patients due to progressive muscular weakness.

Aims: We want to present our experiences in treating SMA patients with intrathecal administration of Nusinersen and discuss those with other centers.

Question: What challenges are there when treating SMA patients with Nusinersen?

Methods: We present our experiences and challenges in the treatment of 38 SMA patients at our center.

Results: We treated 38 patients with SMA between January 2017 and June 2018.

Of these patients, 15 had SMA type 1, 15 had SMA type 2, and SMA type 3. Age at first applications was between 4 months and 17.25 years. Due to swallowing difficulties, nine patients (23.7%) were fed through a feeding tube (seven with SMA 1 and two with SMA 2). One patient had invasive ventilation, and in another patient, invasive ventilation was installed after an event of cardiopulmonary resuscitation during the observation period. Half of the patients used noninvasive ventilation for 6 to 24 hours a day. In one patient, noninvasive ventilation was started during treatment with Nusinersen.

In all patients, lumbar puncture was performed after administration of local anesthesia. In addition, 18 patients were sedated with propofole and ketamine for the procedure (with or without noninvasive ventilation). We did not observe complications because of the sedation in any patient.

Fifty-eight per cent of our patients had scoliosis with a Cobb angle of up to 110 degrees. Seven of those patients had been treated with “growing rods” (MAGEC) or spondylodesis. In those patients as well as patients with severe scoliosis (Cobb angle > 40 degrees) X-ray was performed once to mark the location for the lumbar puncture. Photos were taken to retrieve the location for upcoming punctures.

In patients without scoliosis, an average of 1.7 attempts were necessary for a certain intrathecal injection. In patients with scoliosis, an average of 2 attempts was necessary. Lumbar puncture was successful in all patients.

The treatment was well tolerated in all patients. Few patients experienced mild headache or back pain (11/38 patients), one patient needed hospitalization because of postlumbar puncture syndrome.

In three patients, a pleocytosis was seen in cerebrospinal fluid without any clinical findings (53/3 reps. 85/3 reps. 188/3 cells, 97% lymphocytes; 4th, 5th resp. 6th administration).

Conclusion: Intrathecal administration of Nusinersen in patients with SMA is becoming a routine procedure. Even in patients with severe scoliosis and after redressement procedure, the intrathecal application is possible. The treatment is well tolerated. We did not see any severe complications at our center.