Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism
Clinical and Translational Science, Volume 16, Issue 12, Page 2438-2457, December 2023., 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 ...
Yuen Yi Hon +8 more
wiley +1 more source
Characterization of tracheobronchomalacia in infants with hypophosphatasia
Orphanet Journal of Rare Diseases, 2020 Background Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance.
Raja Padidela +12 more
doaj +1 more source
Clinical Pharmacology &Therapeutics, Volume 114, Issue 2, Page 325-355, August 2023., 2023 Real‐world data (RWD)‐derived external controls can be used to contextualize efficacy findings for investigational therapies evaluated in uncontrolled trials. As the number of submissions to regulatory and health technology assessment (HTA) bodies using external controls rises, and in light of recent regulatory and HTA guidance on the appropriate use ...
Oriol Sola‐Morales +12 more
wiley +1 more source
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta [PDF]
, 2016 Prompt and accurate diagnosis of skeletal dysplasias can play a crucial role in ensuring appropriate counseling and management (both antenatal and postnatal).
Bonafe +10 more
core +1 more source
Consideration of quality of life in the health technology assessments of rare disease treatments [PDF]
, 2021 Objectives Challenges with patient-reported outcome (PRO) evidence and health state utility values (HSUVs) in rare diseases exist due to small, heterogeneous populations, lack of disease knowledge and early onset. To better incorporate quality of life (
Drummond, Michael +5 more
core +1 more source
Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases [PDF]
, 2016 published_or_final_versio
Qiao, W +4 more
core +1 more source
Gene therapy using recombinant AAV type 8 vector encoding TNAP-D10 improves the skeletal phenotypes in murine models of osteomalacia [PDF]
, 2022 Hypophosphatasia (HPP), caused by loss‐of‐function mutations in the ALPL gene encoding tissue‐nonspecific alkaline phosphatase (TNAP), is characterized by skeletal and dental hypomineralization that can vary in severity from life‐threatening to milder ...
Amadeu De Oliveira, Flavia +7 more
core +2 more sources
Az alacsony alkalikusfoszfatáz-aktivitás klinikai értékelése és differenciáldiagnosztikája [PDF]
, 2017 Laboratory diagnostics is especially important in the diagnosis of certain diseases. We compared manual measurements results to laboratory normal values. In some cases, these values depend on the gender and age as well.
Fodor, Anna +2 more
core +2 more sources
A Rare Case of Perinatal Hypophosphatasia Treated With Asfotase Alfa [PDF]
J Endocr Soc, 2021 Abstract Background: Perinatal Hypophosphatasia (HPP) is a rare and lethal disorder associated with a 50–100% mortality rate, usually due to respiratory complications. HPP occurs due to a loss-of-function mutation in the ALPL gene, responsible for the function of tissue-nonspecific alkaline phosphatase (TNSALP).
Srivastava P +4 more
europepmc +3 more sources
Growth and disease burden in children with hypophosphatasia [PDF]
, 2023 Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical manifestations of ...
Dahir, Kathryn +9 more
core +2 more sources