Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)

2020 ◽  
Vol 182 (6) ◽  
pp. 1491-1495 ◽  
Author(s):  
Ryan H. Peretz ◽  
Christina H. Flora ◽  
Darius J. Adams
Keyword(s):  
Natural History ◽  
Mucopolysaccharidosis Type ◽  
Morquio A ◽  
History Of ◽  
Mucopolysaccharidosis Type Iva ◽  
Morquio A Syndrome

The diagnosis and natural history of mucopolysaccharidosis type IVA in one family

2018 ◽  
Vol 123 (2) ◽  
pp. S92
Author(s):  
Dena Matalon ◽  
Patricia Dougherty ◽  
Lauren Lulis ◽  
Livija Medne ◽  
Ian Krantz ◽  
...  
Keyword(s):  
Natural History ◽  
Mucopolysaccharidosis Type ◽  
History Of ◽  
Mucopolysaccharidosis Type Iva

scholarly journals Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations

2015 ◽  
Vol 3 (11) ◽  
pp. 1279-1290 ◽  
Author(s):  
Shunji Tomatsu ◽  
Kazuki Sawamoto ◽  
Tsutomu Shimada ◽  
Michael B Bober ◽  
Francyne Kubaski ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Mucopolysaccharidosis Type ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mucopolysaccharidosis Type Iva ◽  
Morquio A Syndrome

scholarly journals Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)

PLoS ONE ◽  
2016 ◽  
Vol 11 (9) ◽  
pp. e0162612 ◽  
Author(s):  
Christoph Kampmann ◽  
Tariq Abu-Tair ◽  
Seyfullah Gökce ◽  
Christina Lampe ◽  
Jörg Reinke ◽  
...  
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Morquio A ◽  
Cardiovascular Involvement ◽  
Mucopolysaccharidosis Type Iva ◽  
Morquio A Syndrome

scholarly journals Natural history of Morquio A patient with tracheal obstruction from birth to death

2018 ◽  
Vol 14 ◽  
pp. 59-67 ◽  
Author(s):  
Caitlin Doherty ◽  
Lauren W. Averill ◽  
Mary Theroux ◽  
William G. Mackenzie ◽  
Christian Pizarro ◽  
...  
Keyword(s):  
Natural History ◽  
Tracheal Obstruction ◽  
Morquio A ◽  
History Of

scholarly journals Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

2018 ◽  
Vol 15 ◽  
pp. 116-120 ◽  
Author(s):  
Guillem Pintos-Morell ◽  
Javier Blasco-Alonso ◽  
María L. Couce ◽  
Luís G. Gutiérrez-Solana ◽  
Encarna Guillén-Navarro ◽  
...  
Keyword(s):  
Real World ◽  
Mucopolysaccharidosis Type ◽  
Early Access ◽  
Morquio A ◽  
Mucopolysaccharidosis Type Iva ◽  
Access Program ◽  
Elosulfase Alfa

scholarly journals Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Joan Bertolin ◽  
Víctor Sánchez ◽  
Albert Ribera ◽  
Maria Luisa Jaén ◽  
Miquel Garcia ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Viral Vector ◽  
Keratan Sulfate ◽  
Whole Body ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Peripheral Tissues ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mucopolysaccharidosis Type Iva

AbstractMucopolysaccharidosis type IVA (MPSIVA) or Morquio A disease, a lysosomal storage disorder, is caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency, resulting in keratan sulfate (KS) and chondroitin-6-sulfate accumulation. Patients develop severe skeletal dysplasia, early cartilage deterioration and life-threatening heart and tracheal complications. There is no cure and enzyme replacement therapy cannot correct skeletal abnormalities. Here, using CRISPR/Cas9 technology, we generate the first MPSIVA rat model recapitulating all skeletal and non-skeletal alterations experienced by patients. Treatment of MPSIVA rats with adeno-associated viral vector serotype 9 encoding Galns (AAV9-Galns) results in widespread transduction of bones, cartilage and peripheral tissues. This led to long-term (1 year) increase of GALNS activity and whole-body correction of KS levels, thus preventing body size reduction and severe alterations of bones, teeth, joints, trachea and heart. This study demonstrates the potential of AAV9-Galns gene therapy to correct the disabling MPSIVA pathology, providing strong rationale for future clinical translation to MPSIVA patients.

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