Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction

BMC Neurology

Table 1 Clinical and sociodemographic characteristic of SMA patients at baseline

Patient	1	2	3	4	5	6	7	8	9	10	11	12	13	14
Gender	m	f	m	m	f	m	m	f	f	f	f	m	m	m
Age at therapy start (years)	36	51	34	35	34	27	47	27	47	20	39	18	21	23
Previous nusinersen therapy^j	yes	yes	yes	yes	yes	no	no	no	no	no	no	no	no	no
SMA type	3	2	3	2	2	2	3	3	3	2	3	2	2	2
SMN2 copy number	4	3	6	3	3	NA	5	NA	NA	NA	NA	3	NA	NA
Ambulatory	no	no	yes	no	no	no	no	no	no	no	no	no	no	no
Scoliosis	no	yes	no	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes
NIV	no	no	no	yes	no	yes	no	no	yes	no	no	yes	yes	no
PEG	no	no	no	no	no	no	no	no	no	no	no	no	no	no
HFMSE score at baseline	8	0	62	1	2	3	3	4	1	NA	6	NA	2	NA
HFMSE score on day of the last nusinersen treatment	9	0	63	1	3	/	/	/	/	/	/	/	/	/
RULM score at baseline	25	13	37	15	9	14	10	19	14	NA	21	NA	1	NA
RULM score on day of the last nusinersen treatment	24	13	37	14	9	/	/	/	/	/	/	/	/	/
Adverse Events during risdiplam therapy	yes^a	no	yes^b	yes^c	yes^d	yes^e	yes^f	no	yes^g	no	yes^h	no	yesⁱ

SMA spinal muscular atrophy, m male, f female, SMN2 survival of motor neuron 2 gene, NIV non-invasive ventilation, PEG percutaneous endoscopic gastrostomy, HFMSE Hammersmith Functional Motor Scale Expanded, RULM Revised Upper Limb Module
NA not available, / not applicable
^aabdominal pain, otitis media
^baphthous ulcer, diarrhea
^cgingivitis, skin rash/increased skin sensitivity to sunlight
^dconstipation, cystitis
^ediarrhea
^fdiarrhea; g – SARS-CoV-2 infection, abdominal pain,, skin rash/increased skin sensitivity to sunlight
^gaphthous ulcer
^haphthous ulcer
ⁱskin rash/increased skin sensitivity to sunlight
^jpatient 1 had 12 doses, patient 2 had 11 doses, patient 3 had nine doses, patient 4 had eight doses and patient 5 had two doses of nusinersen

ISSN: 1471-2377