Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.

BACKGROUND

Natural history of spinal muscular atrophy (SMA) in adult age has not been fully elucidated yet, including factors predicting disease progression and response to treatments. Aim of this retrospective, cross-sectional study, is to investigate motor function across different ages, disease patterns and gender in adult SMA untreated patients.

METHODS

Inclusion criteria were as follows: (1) clinical and molecular diagnosis of SMA2, SMA3 or SMA4 and (2) clinical assessments performed in adult age (>18 years).

RESULTS

We included 64 (38.8%) females and 101 (61.2%) males (p=0.0025), among which 21 (12.7%) SMA2, 141 (85.5%) SMA3 and 3 (1.8%) SMA4. Ratio of sitters/walkers within the SMA3 subgroup was significantly (p=0.016) higher in males (46/38) than in females (19/38). Median age at onset was significantly (p=0.0071) earlier in females (3 years; range 0-16) than in males (4 years; range 0.3-28), especially in patients carrying 4

CONCLUSIONS

Our data showed a relevant gender effect on SMA motor function with higher disease severity in males especially in the young adult age and in SMA3 patients.

Informations de copyright

© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: LM has received honoraria for speaking, advisory boards and compensation for congress participations from Sanofi Genzyme, Roche and Biogen, outside the submitted work. LB participated in advisory boards for PTC Therapeutics, Sarepta Therapeutics, Edgewise Therapeutics, Epirium Bio and has received speaker honoraria from PTC Therapeutics and participated in research sponsored by Santhera Pharmaceuticals. SB has received funds for travel and congress participation from Sanofi Genzyme and Biogen. MG has received honoraria for speaking from Pfizer, Alnylam, Biogen and Sanofi-Aventis and has received financial support for research, not related to the study described in this manuscript, from Sanofi-Aventis. SCP has been Scientific board member for Esperare and Sarepta and PI of clinical trials for Esperare, FibroGen, Wave, Mallinckrodt, Dyne, Adienne. MT has received compensation for congress participations from Roche and Biogen. MC has received honoraria for speaking, advisory boards and compensation for congress participations from Roche and Biogen. RM has received funding for travel, meeting attendance or Advisory Board participation from Alexion, Argenx, Biomarin, Catalyst, SANOFI, Regeneron and UCB. RL reports personal fees from Biogen, Sanofi- Genzyme, Argon Healthcare s.r.l., Amicus Therapeutics s.r.l. and Alfasigma for Advisory Board consultancy and Lecture fees from Dynamicom Education, SIMG Service, Adnkronos salute unipersonale s.r.l. and DOC Congress s.r.l. outside the submitted work. ILS has received compensation for congress and honoraria for speaking from Biogen, Sanofi Genzyme, Roche, and Celgene Bristol Myers Squibb. TM has received honoraria for speaking, advisory boards and compensation for congress participations from Sanofi Genzyme, Roche and Biogen, outside the submitted work. GC has received compensation for participation ad advisory board for Roche, Sarepta and Italfarmaco. EP reports personal fees from Sarepta, grants and non-financial support from Santhera, personal fees and nonfinancial support from PTC Pharmaceuticals, non-financial support from Genzyme, personal fees from Roche, outside the submitted work.