Results 31 to 40 of about 676 (154)

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism. [PDF]

Clin Transl Sci, 2023
Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Hon YY, Wang J, Abodakpi H, Balakrishnan A, Pacanowski M, Chakder S, Smpokou P, Donohue K, Wang YC.   +8 more
europepmc   +2 more sources

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA. [PDF]

Front Pediatr
Treating Acute Lymphoblastic Leukemia (ALL) in patients with genetic disorders poses significant challenges for onco-hematologists. Mucopolysaccharidosis type IVA (MPS-IVA) is a lysosomal storage disorder that clinically manifests with progressive and ...
Arnaboldi SMC, Faraguna MC, Colombini A, Sala A, Leoni V, Spinelli M, Gotti G, Bettini LR, Crescitelli V, Commone A, Gasperini S, Rizzari C.   +11 more
europepmc   +3 more sources

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023
Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley   +1 more source

Natural History and Real‐World Data in Rare Diseases: Applications, Limitations, and Future Perspectives

The Journal of Clinical Pharmacology, Volume 62, Issue S2, Page S38-S55, December 2022., 2022
Abstract Rare diseases represent a highly heterogeneous group of disorders with high phenotypic and genotypic diversity within individual conditions. Due to the small numbers of people affected, there are unique challenges in understanding rare diseases and drug development for these conditions, including patient identification and recruitment, trial ...
Jing Liu, Jeffrey S. Barrett, Efthimia T. Leonardi, Lucy Lee, Satrajit Roychoudhury, Yong Chen, Panayiota Trifillis   +6 more
wiley   +1 more source

Uncontrolled Extensions of Clinical Trials and the Use of External Controls—Scoping Opportunities and Methods

Clinical Pharmacology &Therapeutics, Volume 111, Issue 1, Page 187-199, January 2022., 2022
Increased interest in real‐world evidence (RWE) for clinical and regulatory decision making and the need to evaluate long‐term benefits and risks of pharmaceutical products raise the importance of understanding the use of external controls (ECs) for uncontrolled extensions of randomized controlled trials (RCTs). We searched clinicaltrials.gov from 2009
Ching‐Yu Wang, Jesse A. Berlin, Barry Gertz, Kourtney Davis, Jie Li, Nancy A. Dreyer, Wei Zhou, John D. Seeger, Nancy Santanello, Almut G. Winterstein   +9 more
wiley   +1 more source

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet

American Journal of Medical Genetics Part A, Volume 185, Issue 11, Page 3350-3358, November 2021., 2021
Abstract From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery to the development of therapies designed to subvert biochemical defects.
Hilary J. Vernon, Irini Manoli
wiley   +1 more source

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

Molecular Genetics &Genomic Medicine, Volume 9, Issue 11, November 2021., 2021
We have evaluated activity of daily living in mucopolysaccharidosis IVA patients from 161 patients. This is the first manuscript to evaluate therapeutic efficacy in both HSCT and ERT. Abstract Background Mucopolysaccharidosis IVA (MPS IVA, also called Morquio A syndrome) is caused by a deficiency of N‐acetylglucosamine‐6‐sulfate sulfatase (GALNS) and ...
Hui Chen, Shaukat Khan, Betul Celik, Yasuyuki Suzuki, Yasuhiko Ago, Shunji Tomatsu   +5 more
wiley   +1 more source

Impact of SARS‐CoV‐2 (COVID‐19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre

Internal Medicine Journal, Volume 51, Issue 10, Page 1580-1593, October 2021., 2021
Abstract This study aims to evaluate the impact of the COVID‐19 pandemic on the lysosomal disorders unit (LSDU) at Royal Free London NHS Foundation Trust (RFL), a highly specialised national service for diagnosis and management of adults with lysosomal storage disorders (LSD). Review of home care enzyme replacement therapy (ERT) and emergency care, and
Uma Ramaswami, Simona D'Amore, Niamh Finnegan, Derralynn Hughes, Masoud Kazemi, Lysosomal Disorders Team, Royal Free London NHS Foundation Trust   +6 more
wiley   +1 more source

Mucopolysaccharidosis type IVA in children: Clinical cases

Кубанский научный медицинский вестник, 2022
Background. Mucopolysaccharidosis type IVA (Morquio syndrome) is a rare genetic lysosomal storage disease. Due to rarity, the syndrome is typically diagnosed at a later stage of gross affections of musculoskeletal and central nervous systems, leading to ...
A. V. Burlutskaya, N. V. Savel′eva, G. V. Naumenko   +2 more
doaj   +1 more source

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +2 more sources