Of course, this also benefits the research. Now going online the latest evaluations
In Germany, treatment with nusinersen was provided to children with SMA type 1 within the EAP from 11/2016 until 06/2017. Inclusion criteria to participate in the EAP were presence of a genetically proven 5q SMA, documented onset of clinical signs and symptoms before 6 months of age and that patients’ care met the guidelines published in 2007 as consensus statement for standard of care in SMA . The following exclusion criteria were defined: participation in an ongoing clinical trial with nusinersen or in a prior nusinersen study, previous exposure to nusinersen, history of brain- or spinal cord disease that would interfere with lumbar puncture procedures or cerebrospinal fluid (CSF) circulation, presence of an implanted shunt for CSF drainage or implanted central nervous system (CNS) catheter, previous or current participation in a clinical trial with an investigational gene therapy for SMA, or participation in a study with an investigational therapy for SMA within the past six months.
Intrathecal injections with nusinersen were performed on treatment days 1, 15, 30, 60 and 180. Prior to drug approval, dosage of nusinersen was age-dependent analogous to the preceding clinical trials: 9.6 mg (0–90 days), 10.3 mg (91–182 days), 10.8 mg (183–365 days), 11.3 mg (366–730 days) and 12 mg (>731 days). After approval, dosage was 12 mg for all children independent of age.
ACKNOWLEDGMENTS INCLUDING SOURCES OF SUPPORT
This research was funded by Initiative SMA e.V. Training workshops for participating physiotherapists were supported by Biogen. The authors acknowledge Gabriele Ihorst for statistical support and Brunhilde Wirth for genetic testing of SMN2 copy numbers.
Lumbar punctures were performed without any severe complications and nusinersen was administered intrathecally in all children on all treatment days. Sedation was used during 31.8% of lumbar punctures.
After six months of treatment, 19 children did not require any ventilator support, whereas 6 children (9.8%) started with NIV (<16 hours per day) during the EAP. Three children (4.9%) underwent tracheostomy and four children (6.6%) additionally required NIV >16 hours per day on treatment day 180 (see Fig. 3). An improvement was reported in four children (6.6%): in three of them the time of ventilator use was reduced up to eight hours per day and in one child with a milder phenotype prior to treatment, NIV could be terminated after treatment day 30