Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials
Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by compound heterozygous variants in ALPL. Her chief...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300896 |
| _version_ | 1818726785916862464 |
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| author | Hitomi Nishizawa Yoshihiko Sato Masumi Ishikawa Yuko Arakawa Mari Iijima Tomoyuki Akiyama Kyoko Takano Atsushi Watanabe Tomoki Kosho |
| author_facet | Hitomi Nishizawa Yoshihiko Sato Masumi Ishikawa Yuko Arakawa Mari Iijima Tomoyuki Akiyama Kyoko Takano Atsushi Watanabe Tomoki Kosho |
| author_sort | Hitomi Nishizawa |
| collection | DOAJ |
| description | Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by compound heterozygous variants in ALPL. Her chief complaints were severe musculoskeletal pain, muscle weakness, and impaired daily activities necessitating assistance in housework and child-rearing in addition to a history of early tooth loss and mildly short stature. Asfotase alfa therapy produced a remarkable increase in muscle strength and daily activities and markedly reduced musculoskeletal pain. Drug efficacy was clearly demonstrated through multiple test batteries (muscle strength test using microFET®2, six-minute walking test, Stair Climb Test, rising-from-floor-time test, and number-of-steps test using Actigraph®) currently adopted as standardized evaluations in Duchenne muscular dystrophy clinical trials since no test batteries for HPP have been established to date. These tests may also be promising for the assessment of HPP. |
| first_indexed | 2024-12-17T22:03:44Z |
| format | Article |
| id | doaj.art-da7aa63db0994ed9abb3d5997d5b9ff5 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-17T22:03:44Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-da7aa63db0994ed9abb3d5997d5b9ff52022-12-21T21:30:54ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-12-0125100643Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trialsHitomi Nishizawa0Yoshihiko Sato1Masumi Ishikawa2Yuko Arakawa3Mari Iijima4Tomoyuki Akiyama5Kyoko Takano6Atsushi Watanabe7Tomoki Kosho8Faculty of Health Sciences, Department of Medicine, Shinshu University, Matsumoto, Japan; Correspondence to: H. Nishizawa, Faculty of Health Sciences, Department of Medicine, Shinshu University, 3-1-1 Asahi, Matsumoto 390-8621, Nagano, Japan.Department of Diabetes, Endocrinology and Metabolism, Division of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan; Department of Diabetes, Endocrinology and Metabolism, Matsumoto City Hospital, Matsumoto, JapanCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, JapanDepartment of Dentistry and Oral Surgery, Shinshu University School of Medicine, Matsumoto, JapanDepartment of Clinical Nutrition, Shinshu University Hospital, Matsumoto, JapanDepartment of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama, JapanCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, JapanDivision of Clinical Genetics, Kanazawa University Hospital, Kanazawa, JapanCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan; Division of Clinical Sequence, Shinshu University School of Medicine, Matsumoto, Japan; Correspondence to: T. Kosho, Department of Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Nagano, Japan.Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by compound heterozygous variants in ALPL. Her chief complaints were severe musculoskeletal pain, muscle weakness, and impaired daily activities necessitating assistance in housework and child-rearing in addition to a history of early tooth loss and mildly short stature. Asfotase alfa therapy produced a remarkable increase in muscle strength and daily activities and markedly reduced musculoskeletal pain. Drug efficacy was clearly demonstrated through multiple test batteries (muscle strength test using microFET®2, six-minute walking test, Stair Climb Test, rising-from-floor-time test, and number-of-steps test using Actigraph®) currently adopted as standardized evaluations in Duchenne muscular dystrophy clinical trials since no test batteries for HPP have been established to date. These tests may also be promising for the assessment of HPP.http://www.sciencedirect.com/science/article/pii/S2214426920300896HypophosphatasiaAlkaline phosphataseGenetic diseaseAsfotase alfaRecombinant gene therapyMotor function |
| spellingShingle | Hitomi Nishizawa Yoshihiko Sato Masumi Ishikawa Yuko Arakawa Mari Iijima Tomoyuki Akiyama Kyoko Takano Atsushi Watanabe Tomoki Kosho Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials Molecular Genetics and Metabolism Reports Hypophosphatasia Alkaline phosphatase Genetic disease Asfotase alfa Recombinant gene therapy Motor function |
| title | Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials |
| title_full | Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials |
| title_fullStr | Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials |
| title_full_unstemmed | Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials |
| title_short | Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials |
| title_sort | marked motor function improvement in a 32 year old woman with childhood onset hypophosphatasia by asfotase alfa therapy evaluation based on standardized testing batteries used in duchenne muscular dystrophy clinical trials |
| topic | Hypophosphatasia Alkaline phosphatase Genetic disease Asfotase alfa Recombinant gene therapy Motor function |
| url | http://www.sciencedirect.com/science/article/pii/S2214426920300896 |
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