TY - JOUR
T1 - Fibrodysplasia ossificans progressiva
T2 - Review and research activities in Japan
AU - Haga, Nobuhiko
AU - Nakashima, Yasuharu
AU - Kitoh, Hiroshi
AU - Kamizono, Junji
AU - Katagiri, Takenobu
AU - Saijo, Hideto
AU - Tsukamoto, Sho
AU - Shinoda, Yusuke
AU - Sawada, Ryoko
AU - Nakahara, Yasuo
N1 - Funding Information:
This work was partly supported by Health and Labor Sciences Research Grants for Research on Intractable Diseases, the Ministry of Health, Labor and Welfare. We appreciate the contribution of Professor Atsushi Okawa, Department of Orthopaedic Surgery, Tokyo Medical and Dental University, for supporting the activities of our research group. We acknowledge the contribution by the Project of Clinical and Basic Research for FOP, Saitama Medical University, which performed most of the gene analyses of Japanese FOP patients. We also express our sincere appreciation to all the participants in our research group’s study, especially the Japanese Patients and Family Society for FOP “J-FOP.” We thank Rebecca Jackson, PhD, from Edanz Group (www.edanzediting.com/ac) for editing a draft of this manuscript.
Funding Information:
This work was partly supported by Health and Labor Sciences Research Grants for Research on Intractable Diseases, the Ministry of Health, Labor and Welfare. We appreciate the contribution of Professor Atsushi Okawa, Department of Orthopaedic Surgery, Tokyo Medical and Dental University, for supporting the activities of our research group. We acknowledge the contribution by the Project of Clinical and Basic Research for FOP, Saitama Medical University, which performed most of the gene analyses of Japanese FOP patients. We also express our sincere appreciation to all the participants in our research group’s study, especially the Japanese Patients and Family Society for FOP “J‐FOP.” We thank Rebecca Jackson, PhD, from Edanz Group ( www.edanzediting.com/ac ) for editing a draft of this manuscript.
Funding Information:
In 2007, we established a research group on FOP in Japan, supported by the Health and Labor Sciences Grants on Intractable Diseases from the Ministry of Health, Labor, and Welfare. This group comprises orthopedic surgeons, pediatricians, physiatrists, oral‐maxillofacial surgeons, and basic researchers. We have performed clinical studies with Japanese patients with FOP, and disseminated our findings and knowledge to clinicians, researchers, patients, and their caregivers through our website and newsletters. Here, we review the recent situation and the medical management of patients with FOP, including the research activities of our group.
Publisher Copyright:
© 2019 Japan Pediatric Society
PY - 2020/1/1
Y1 - 2020/1/1
N2 - Fibrodysplasia ossificans progressiva (FOP) is a rare genetic skeletal disorder manifesting progressive heterotopic ossification (HO) and congenital malformation of the great toes. Since 2007, we have conducted research on FOP. Here, we review the findings on FOP published to date, including the results of our research. Epidemiological studies in Japan have indicated that FOP has nearly the same prevalence in Japan as in the rest of the world. Basic research on its pathoetiology has progressed rapidly since the identification of the causal gene in 2006. Clinical and radiological findings have been thoroughly researched, including early radiological signs, and diagnostic criteria were established, designating FOP as an intractable disease in Japan. In patients with FOP, the progression of HO is associated with numerous disabilities, often manifesting in vicious cycles that can lead to early mortality. Through cross-sectional and short-term longitudinal studies, we have explored patient education, quality of life, and activities of daily living among Japanese patients. The management of FOP requires education of patients and caregivers, the use of medications to settle inflammation and flare-ups, instructions to ensure proper oral care, and other compensatory approaches that aid in rehabilitation. An avoidance of medical intervention, which may cause HO to progress, is also important. The advent of new drugs to prevent HO could have clinical benefit.
AB - Fibrodysplasia ossificans progressiva (FOP) is a rare genetic skeletal disorder manifesting progressive heterotopic ossification (HO) and congenital malformation of the great toes. Since 2007, we have conducted research on FOP. Here, we review the findings on FOP published to date, including the results of our research. Epidemiological studies in Japan have indicated that FOP has nearly the same prevalence in Japan as in the rest of the world. Basic research on its pathoetiology has progressed rapidly since the identification of the causal gene in 2006. Clinical and radiological findings have been thoroughly researched, including early radiological signs, and diagnostic criteria were established, designating FOP as an intractable disease in Japan. In patients with FOP, the progression of HO is associated with numerous disabilities, often manifesting in vicious cycles that can lead to early mortality. Through cross-sectional and short-term longitudinal studies, we have explored patient education, quality of life, and activities of daily living among Japanese patients. The management of FOP requires education of patients and caregivers, the use of medications to settle inflammation and flare-ups, instructions to ensure proper oral care, and other compensatory approaches that aid in rehabilitation. An avoidance of medical intervention, which may cause HO to progress, is also important. The advent of new drugs to prevent HO could have clinical benefit.
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U2 - 10.1111/ped.14065
DO - 10.1111/ped.14065
M3 - Review article
C2 - 31774601
AN - SCOPUS:85078693449
SN - 1328-8067
VL - 62
SP - 3
EP - 13
JO - Pediatrics International
JF - Pediatrics International
IS - 1
ER -
