Clinical Research
Fabry disease : the Phase 3 ATTRACT study showed a favorable safety profile of the switching to Migalastat from enzyme replacement therapy
- To read more about “Fabry disease”
- Am J Med Genet A. 2019 Jun;179(6):1069-1073
Duchenne muscular dystrophy : A retrospective review showed that a nationwide cohort of boys treated with glucortoicoid treatment had the highest fracture incidence and the greatest degree of linear growth failure
- To read more about “Duchenne muscular dystrophy”
- JAMA Neurol. 2019 Mar 11
Duchenne muscular dystrophy : A randomized trial showed that ACE-inhibitor Enalapril in association with β-blocker metoprolol in infantile and juvenile patient may delay the onset of left ventricular dysfunction, but did not reach significative efficacy
- To read more about “Duchenne muscular dystrophy”
- Orphanet J Rare Dis. 2019 May 10;14(1):105
Later-onset spinal muscular atrophy : Phase 1/2 studies showed that long-term intrathecal nusinersen in children resulted in motor function improvement and disease stabilization
- To read more about “Proximal spinal muscular atrophy”
- To read more about “Distal hereditary motor neuropathy”
- Neurology. 2019 May 21;92(21):e2492-e2506
Generalized myasthenia gravis : A randomized phase 2 study showed that FcRn antagonist efgartigimod is safe and well tolerated
- To read more about “Myasthenia gravis”
- Neurology. 2019 Jun 4;92(23):e2661-e2673
X-linked hypophosphataemia : A randomized, open-label, phase 3 trial showed significant greater clinical improvements with burosumab versus conventional therapy in children
- To read more about “X-linked hypophosphatemia”
- Lancet. 2019 Jun 15;393(10189):2416-2427
Sinonasal tract diffuse large B-cell lymphoma : A study showed that addition of rituximab to chemotherapy
and central nervous system-directed chemotherapy reduced the risk of progression and death, and translated into better survival
- To read more about “Diffuse large B-cell lymphoma”
- Eur J Haematol. 2019 Jun;102(6):457-464
Systemic sclerosis : A large prospective cohort study showed that rituximab was associated with a good safety profile and significant change in skin fibrosis
- To read more about “Systemic sclerosis”
- Ann Rheum Dis. 2019 Jul;78(7):979-987
Gaucher disease type 1 : A long term adverse event profile pooled analysis showed a favorable safety profile of oral eliglustat in adults
- To read more about “Gaucher disease type 1”
- Orphanet J Rare Dis. 2019 Jun 7;14(1):128
Tuberous sclerosis complex : A retrospective study showed that mTOR inhibitor treatment with everolimus is safe in patients under the age of 2 years and showed beneficial therapeutic effects
- To read more about “Tuberous sclerosis complex”
- Orphanet J Rare Dis. 2019 May 3;14(1):96
Long QT syndrome type 2 : Lumacafror and ivacaftor shorten significatly the QTc in two patients in the firts attempt to validate the in vitro results of a drug repurposing strategy for cardiovascular disorders
- To read more about “Romano-Ward syndrome”
- Eur Heart J. 2019 Jun 14;40(23):1832-1836
Immune thrombocytopenia : ICON1, a prospective, multi‐center, observational study of children starting second‐line treatments compared treatment outcomes including platelet count
- To read more about “Autoimmune thrombocytopenia”
- Am J Hematol. 2019 Jul;94(7):741-750
Primary Sjögren's syndrome : A phase 2 randomized trial showed that ianalumab (VAY736) targeting B cells by BAFF receptor blockade coupled with enhanced, antibody-dependent cellular cytotoxicity could provide therapeutic benefits
- To read more about “Primary Sjögren syndrome”
- Ann Rheum Dis. 2019 May;78(5):641-647
PMM2-CDG : the first clinical trial AZATAX showed that acetazolamide is well tolerated and effective for motor cerebellar syndrome
- To read more about “PMM2-CDG”
- Ann Neurol. 2019 May;85(5):740-751
Familial partial lipodystrophy : A subgroup analysis of a prospective study showed similar metabolic improvements with metreleptin in patients with PPARG and LMNA pathogenic variants
- To read more about “Familial partial lipodystrophy”
- J Clin Endocrinol Metab. 2019 Aug 1;104(8):3068-3076
Proteus syndrome : A report showed the first evidence of a therapeutic effect of miransertib, a selective AKT inhibitor, in a teenager with Proteus syndrome and ovarian carcinoma
- To read more about “Proteus syndrome”
- Am J Med Genet A. 2019 Jul;179(7):1319-132
Aromatic l-amino acid decarboxylase deficiency : A study showed that restauration of dopamine levels in the putamen by gene therapy improved brain white matter microstructural integrity
- To read more about “Aromatic L-amino acid decarboxylase deficiency”
- Ann Neurol. 2019 May;85(5):644-652
Aplastic anemia : A single-center study over the past 15 years showed that the response rate of horse anti-thymocyte globulin and cyclosporine is superior to rabbit anti-thymocyte globulin and cyclosporine in naïve treatment patients
- To read more about “Aplastic anemia”
- Eur J Haematol. 2019 Jul;103(1):18-25
Trisomy 18 : A retrospective multicenter study investigated the factors related to survival discharge
- To read more about “Trisomy 18”
- Am J Med Genet A. 2019 Jul;179(7):1253-1259
Fibrodysplasia ossificans progressiva : Natural history and cross-sectional analysis of annotated baseline phenotypes.
- To read more about “Fibrodysplasia ossificans progressiva”
- Orphanet J Rare Dis. 2019 May 3;14(1):98
Metachromatic leukodystrophy : Insights into the natural history from interviews with caregivers
- To read more about “Metachromatic leukodystrophy”
- Orphanet J Rare Dis. 2019 Apr 29;14(1):89
Classic galactosemia : The natural history and lessons from the GalNet registry.
- To read more about “Classic galactosemia”
- Orphanet J Rare Dis. 2019 Apr 27;14(1):86
Mucopolysaccharidosis type 4A : First national natural history cohort study in Malaysia and clinical, biochemical and genetic profiles
- To read more about “Mucopolysaccharidosis type 4A”
- Orphanet J Rare Dis. 2019 Jun 14;14(1):143
Renal cell carcinoma: A multicentre, phase 3, randomised trial showed that atezolizumab plus bevacizumab prolonged progression-free survival versus sunitinib in patients with metastatic renal cell carcinoma
- To read more about “Renal cell carcinoma”
- Lancet. 2019 Jun 15;393(10189):2404-2415
Diffuse large B-cell lymphoma: A randomised phase 3 trial using real-time molecular characterisation showed that the addition of bortezomib to standard therapy did not improve progression-free survival
- To read more about “Diffuse large B-cell lymphoma”
- Lancet Oncol. 2019 May;20(5):649-662
B-cell chronic lymphocytic leukemia: A phase 2 study showed that combined ibrutinib and venetoclax was an effective oral first line treatment for high-risk and older patients
- To read more about “B-cell chronic lymphocytic leukemia”
- N Engl J Med. 2019 May 30;380(22):2095-2103
Chronic lymphocytic leukemia‐associated autoimmune cytopenias : A study from the FILO group showed that ibrutinib and idelalisib may offer new therapeutics options
- To read more about “B-cell chronic lymphocytic leukemia”
- Am J Hematol. 2019 Jul;94(7):E183-E185
Multiple Myeloma : An integrated analysis of four phase I/II studies showed that ixazomib maintenance therapy is associated with deepening of responses and a positive safety profile with no cumulative toxicity in patients not undergoing transplantation
- To read more about “Multiple myeloma”
- Eur J Haematol. 2019 Jun;102(6):494-503
Multiple myeloma : The phase 3 CLARION study showed that carfilzomib with melphalan-prednisone did not yield a significant difference in progression-free survival versus bortezomib with melphalan-prednisone for transplant-ineligible patients
- To read more about “Multiple myeloma”
- Blood. 2019 May 2;133(18):1953-1963
Adenocarcinoma of the esophagus: A randomised phase 2/3 trial showed that chemotherapy with fluorouracil plus leucovorin, oxaliplatin, and docetaxel improved overall survival compared with fluorouracil or capecitabine plus cisplatin and epirubicin
- To read more about “Adenocarcinoma of the esophagus”
- Lancet. 2019 May 11;393(10184):1948-1957
Arrhythmogenic right ventricular cardiomyopathy : A new prediction model using available clinical parameters to estimate ventricular arrhythmias risk and guide decisions regarding primary prevention
- To read more about “Arrhythmogenic right ventricular cardiomyopathy”
- Eur Heart J. 2019 Jun 14;40(23):1850-1858
Charcot-Marie-Tooth disease type 4B : A large multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins demonstrated that CMT4B1 is significantly more severe than CMT4B2
- To read more about “Charcot-Marie-Tooth disease type 4B1”
- To read more about “Charcot-Marie-Tooth disease type 4B2”
- To read more about “Charcot-Marie-Tooth disease type 4B3”
- Ann Neurol. 2019 Jul;86(1):55-67
AL amyloidosis : A pooled analysis showed that immunomodulatory agents have activity and efficacy in inducing hematologic responses, and led to prolonged progression-free survival and overall survival in patients who had relapsed after initial therapy
- To read more about “AL amyloidosis”
- Am J Hematol. 2019 Jul;94(7):E194-E196
Sickle cell disease : A phase 1/2 increasing-dose, open-label extension study showed that voxelotor had a favorable safety profile
- To read more about “Sickle cell anemia”
- Blood. 2019 Apr 25;133(17):1865-1875
Idiopathic multicentric Castleman disease : A phase 2 study showed that oral thalidomide-cyclophosphamide-prednisone therapy was effective in newly diagnosed patients
- To read more about “Castleman disease”
- Blood. 2019 Apr 18;133(16):1720-1728
B-cell chronic lymphocytic leukemia : The long-term follow-up of the RESONATE phase 3 trial showed that ibrutinib is an effective treatment in relapsed/refractory chronic lymphocytic leukemia
- To read more about “B-cell chronic lymphocytic leukemia”
- Blood. 2019 May 9;133(19):2031-2042
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