Results 21 to 30 of about 172,598 (105)

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia [PDF]

, 2019
Hypophosphatasia (HPP) features low tissue-nonspecific alkaline phosphatase (TNSALP) isoenzyme activity resulting in extracellular accumulation of its substrates including pyridoxal 5\u27-phosphate (PLP), the principal circulating form of vitamin B6, and
Watsky, Eric, Bhatti, M Tariq, Kishnani, Priya S, Rockman-Greenberg, Cheryl, Moseley, Scott, Rauch, Frank, Denker, Andrew E, Whyte, Michael P   +7 more
core   +1 more source

Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data [PDF]

, 2020
Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset hypophosphatasia (HPP), a rare, inherited, systemic disease causing impaired skeletal mineralization, short stature, and reduced physical function in ...
Simmons, Jill H., Martos Moreno, Gabriel Ángel, Petryk, Anna, Rush, Eric T., Zhou, Shanggen, Simmons, Jill H, Martos-Moreno, Gabriel Á, Rush, Eric T   +7 more
core   +3 more sources

Additional file 1 of A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia

, 2022
Additional file 1. Video record of patient 2 demonstrating the patient’s inability to walk and the subsequent improvement in pain and walking ability after asfotase alfa (AA) initiation.
Taijiro Watanabe (12129659), Tetsuro Matsuhashi (9721359), Takuya Fushimi (843970), Masaru Shimura (843971), Tomohiro Ebihara (12129671), Tomoyuki Akiyama (318638), Tomoko Tsuruoka (12129674), Ayako Matsunaga (12129668), Kei Murayama (12129677), Makiko Tajika (12129662), Keiko Ichimoto (12129665), Yohei Sugiyama (12129656)   +11 more
core   +1 more source

Efficacy and safety of asfotase alfa in infants and young children with hypophosphatasia:a phase 2 open-label study [PDF]

, 2019
CONTEXT: Long-term data on enzyme replacement treatment of hypophosphatasia (HPP) are limited.OBJECTIVE: To evaluate efficacy and safety of asfotase alfa in patients aged ≤5 years with HPP followed for up to 6 years.DESIGN: Phase 2 open-label study (July
Rockman-Greenberg, C., Martos Moreno, Gabriel Ángel, Hofmann, Christine E, Liese, Johannes, Moseley, S., Högler, Wolfgang, Fujita, Kenji P, Moseley, Scott, Harmatz, P., Harmatz, Paul, Vockley, Jerry, Hofmann, Christine E., Nakayama, H., Hofmann, C.E., Fujita, K.P., Fujita, Kenji P., Martos-moreno, Gabriel Á, Bishop, N., Bishop, Nick, Vockley, J., Liese, J., ENB-010-10 Study Group, Högler, W., Nakayama, Hideki, Martos-Moreno, G.Á., Rockman-Greenberg, Cheryl   +25 more
core   +1 more source

Pathophysiology of hypophosphatasia and the potential role of asfotase alfa [PDF]

, 2016
Hideo Orimo Division of Metabolism and Nutrition, Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan Abstract: Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone ...
Orimo H
core  

Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X‐Linked Hypophosphatemia in Mice

Journal of Periodontal Research, Volume 61, Issue 3, Page 309-322, March 2026.
Effects of exogenous tissue‐nonspecific alkaline phosphatase (TNAP) were analyzed in the Hyp mouse model of X‐linked hypophosphatemia (XLH). Maxillary first molars were extracted from wild‐type (WT) and Hyp mice at 6 weeks, and collagen gel ± TNAP was placed in sockets. In one group of Hyp mice, submucosal injections of TNAP or saline were delivered at
Aonjittra Phanrungsuwan, Bella Donnelly, José Luis Millán, Brian L. Foster   +3 more
wiley   +1 more source

Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hypophosphatasia (HPP) is an inherited metabolic disease caused by deficient tissue‐nonspecific alkaline phosphatase (ALP) activity and characterized by skeletal and nonskeletal symptoms, including muscle weakness and fatigue. We hypothesized that mitochondrial respiration is impaired in muscle in HPP, independent of skeletal manifestations ...
Denise Devore, Juan Ruanova, Walter Voegtli, Derek Dunn, John Decker, Maurizio Mazzantini, Vincenzo De Tata, Maria Concetta Scavuzzo, Francesco Conti, Anna Petryk, Maria Luisa Brandi   +10 more
wiley   +1 more source

ALPL Mutations With Dominant‐Negative Effect in Infantile Hypophosphatasia Monozygotic Twins

Human Mutation, Volume 2026, Issue 1, 2026.
Background and Aims Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by ALPL gene mutations, resulting in deficient tissue‐nonspecific alkaline phosphatase (ALP) activity. We investigated genotype–phenotype correlations in a monozygotic female twin pair with infantile HPP.
Luna Hao, Na Huang, Yilun Tao, Hui Li, Juyu Zhuang, Xiaoyun Li, Zekun Hao, Feng Zhao, Harleen Khatra   +8 more
wiley   +1 more source

The Clinical Spectrum of Hypophosphatasia in Older Adults

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Alkaline phosphatase (ALP) should be measured in older adults presenting with fragility fractures. Hypophosphatasia (HPP) should be suspected in individuals with hypophosphatasemia (low serum ALP). A correct diagnosis allows clinicians to avoid using potent antiresorptive osteoporosis medications, which are contraindicated in patients with HPP.
Estefania Valdez Navarro, Evelyn M. Wong, Lianne Tile, Angela M. Cheung   +3 more
wiley   +1 more source

PMDA Perspective on Use of Real‐World Data and Real‐World Evidence as an External Control: Recent Examples and Considerations

Clinical Pharmacology &Therapeutics, Volume 117, Issue 4, Page 910-919, April 2025.
Recent discussions about the utilization of real‐world data (RWD) and real‐world evidence (RWE) have been more focused on drug development for regulatory approval rather than during the post‐marketing stage. In Japan, RWD/RWE have been practically utilized as an external control for drug approval.
Junichi Asano, Hiromi Sugano, Hiroyuki Murakami, Atsushi Noguchi, Yuki Ando, Yoshiaki Uyama   +5 more
wiley   +1 more source