Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries.

Molecular Genetics and Metabolism Reports
Villarreal M SolanoHector Paul Quintero Montaño

Abstract

There is a paucity of real-world epidemiological data on patients with mucopolysaccharidoses (MPS) in Latin America. This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America (Colombia, Ecuador, Mexico, Peru). Data were collected from physicians/specialists experienced in treating MPS patients between April-June 2020, via an online patient-diary survey. Overall, 29 physicians/specialists participated in this study. Data from 98 patients were analyzed (MPS-IVA, 71 patients and MPS-VI, 27 patients). Mean age for MPS-IVA patients was 17.5 years and for MPS-VI patients was 11.6 years, and the majority were females (52% and 78%, respectively). MPS-IVA and VI patients presented a high absenteeism from school (55% and 37%, respectively; <18 years age) and workplace (78% and 100%, respectively; >18 years age), indicating an impact of the disease on some aspects of the patients' quality of life. The onset of the first symptom occurred at the age of 3.1 years for MPS-IVA patients and at 1 year for MPS-VI, with delay in diagnosis (3.5-3.9 years from symptom onset) and enzyme replacement therapy (ERT) initiation (1.1-3.6 years from diagn...Continue Reading

References

Jun 11, 2004·Journal of Inherited Metabolic Disease·R J Desnick
Mar 10, 2007·Journal of Inherited Metabolic Disease·A M MontañoT Orii
Apr 17, 2008·American Journal of Medical Genetics. Part a·Adriana M MontañoTadao Orii
Mar 25, 2010·Molecular Therapy : the Journal of the American Society of Gene Therapy·Shunji TomatsuWilliam S Sly
Apr 14, 2010·Orphanet Journal of Rare Diseases·Vassili ValayannopoulosSean Turbeville
May 5, 2011·Journal of Inherited Metabolic Disease·María Verónica Muñoz-RojasAna Maria Martins
Oct 15, 2011·Molecular Genetics and Metabolism·Fabiana Moura Costa-MottaSandra Leistner-Segal
Feb 16, 2013·Genetics and Molecular Biology·Roberto Giugliani
Dec 19, 2013·Case Reports in Medicine·Albina TummoloFrancesco Papadia
Jan 7, 2014·Molecular Genetics and Metabolism·Joseph Muenzer
Mar 8, 2014·Orphanet Journal of Rare Diseases·Christian J HendrikszChristina Lampe
Mar 13, 2014·Journal of Clinical Pharmacy and Therapeutics·H Noh, J I Lee
Oct 28, 2014·American Journal of Medical Genetics. Part a·Christian J HendrikszRavi Savarirayan
Dec 30, 2014·Molecular Genetics and Metabolism·Shunji TomatsuTadao Orii
Jan 24, 2015·JIMD Reports·Nadia Ali, S Cagle
Mar 5, 2016·The Cochrane Database of Systematic Reviews·Marcela Junqueira BrunelliEdina M K da Silva
Aug 27, 2016·Orphanet Journal of Rare Diseases·Christian J HendrikszJeffrey I Gold
Nov 20, 2016·Expert Review of Clinical Pharmacology·Christian J Hendriksz
Jan 4, 2018·Molecular Genetics and Metabolism·Kazuki SawamotoShunji Tomatsu
Nov 18, 2018·Italian Journal of Pediatrics·Miriam RigoldiMaria Teresa Mascia
Nov 25, 2018·Pediatrics·Filippo Pinto E VairoBrendan C Lanpher
May 31, 2019·Orphanet Journal of Rare Diseases·Mehmet Umut AkyolUNKNOWN MPS Consensus Programme Co-Chairs
Jun 15, 2019·Orphanet Journal of Rare Diseases·Mehmet Umut AkyolUNKNOWN MPS Consensus Programme Co-Chairs
Apr 8, 2020·Heliyon·María Alejandra Puentes-TellezCarlos J Alméciga-Díaz
Nov 4, 2020·Archives of Disease in Childhood·Roberto GiuglianiJoseph Muenzer

❮ Previous
Next ❯

Software Mentioned

IQVIA

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.