Clinical Research
Biventricular arrhythmogenic cardiomyopathy : 12-year natural history
Eur Heart J . 2023 Oct 21;44(40):4293
Sickle cell anemia : Pubertal patterns in children, a case–control study in Cameroon
Arch Pediatr . 2023 Oct;30(7):466-470
CF (Cystic fibrosis) : Undernutrition is still highly frequent in hospitalized children
Arch Pediatr . 2023 Oct;30(7):517-520
Trisomy 13 : Impact of tracheostomies on the long-term survival
Am J Med Genet A . 2023 Nov;191(11):2736-2742
Idiopathic hypereosinophilic syndrome : Low-dose anti-IL 5 treatment, towards a precision medicine approach for remission maintenance
Orphanet J Rare Dis . 2023 Sep 26;18(1):302
Rare aplastic anemia, relapsed or refractory : Repeated immunosuppressive rabbit antithymocyte globulin therapy for adult
Eur J Haematol . 2023 Nov;111(5):768-776
DMD (Duchenne muscular dystrophy) : Gene Therapy, Death after High-Dose rAAV9
N Engl J Med . 2023 Sep 28;389(13):1203-1210
HCC (Hepatocellular carcinoma), unresectable : Phase 3, Camrelizumab plus rivoceranib versus sorafenib as first-line therapy (CARES-310, a randomised, open-label, international)
Lancet . 2023 Sep 30;402(10408):1133-1146
X-linked centronuclear myopathy : Phase 1/2/3, gene replacement therapy, high-throughput transcriptome analyses, from ASPIRO
Am J Hum Genet . 2023 Oct 5;110(10):1648-1660
Multiple myeloma, relapsed or refractory : Phase 2, Elranatamab (MagnetisMM-3 trial results)
Nat Med . 2023 Sep;29(9):2259-2267
Rare and ultra-rare sarcomas : Phase 2, pembrolizumab, analysis of a subgroup from AcSé Pembrolizumab (a non-randomised, open-label, basket trial)
Lancet Oncol . 2023 Aug;24(8):892-902
B-CLL (B-cell chronic lymphocytic leukemia), and small lymphocytic lymphoma : Phase 1–2, Lisocabtagene maraleucel (TRANSCEND CLL 004, a multicentre, open-label, single-arm)
Lancet . 2023 Aug 19;402(10402):641-654
SMA (Proximal spinal muscular atrophy) : Onasemnogene abeparvovec for epithelioid neoplasm of the spinal cord, in child
Mol Ther . 2023 Oct 4;31(10):2991-2998
AML (Acute myeloid leukemia), acute, relapsed or refractory : Venetoclax-based therapy, following intensive induction chemotherapy
Eur J Haematol . 2023 Oct;111(4):573-582
Therapeutic Approaches
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (42) : Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model
Mol Ther . 2023 Sep 6;31(9):2783-2795
CRMD (Retinitis pigmentosa), CNGB1 : Development of a translatable gene augmentation therapy
Mol Ther . 2023 Jul 5;31(7):2028-2041
Patient Management and Therapy
CDG (Congenital disorder of glycosylation) : State of the art in 2022
Orphanet J Rare Dis . 2023 Oct 19;18(1):329
Summary of the edition of 15 February 2024
