Study of longitudinal observation for patient with X-linked hypophosphatemic rickets/osteomalacia in collaboration with Asian partners

Conditions

X-linked hypophosphatemic rickets/osteomalacia

Fujiwara K, Kabata D, Kawai R, Kang HG, Namba N, Ito N, Shintani A, Fukumoto S, Ozono K, Michigami T.

2025-10-04

Prevalence of Comorbid Hyperparathyroidism and Its Association with Renal Dysfunction in Asian Patients with X-Linked Hypophosphatemic Rickets/Osteomalacia.

Ito N, Kang HG, Michigami T, Namba N, Kubota T, Shintani A, Kawai R, Kabata D, Ishii H, Nishida Y, Fukumoto S, Ozono K.

2025-03-121 citations

10.1007/s00223-025-01359-9

Long-term outcomes for Asian patients with X-linked hypophosphataemia: rationale and design of the SUNFLOWER longitudinal, observational cohort study

Takuo Kubota, Seiji Fukumoto, Hae Il Cheong, Toshimi Michigami, Noriyuki Namba et al. (9 authors)

BMJ Open2020-06-0113 citations

10.1136/bmjopen-2019-036367

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patients with a diagnosis of XLH who fulfil all of the following criteria: 1. Patients must meet at least one of the following: (1) Documented PHEX gene mutation (2) Documented PHEX gene mutation in at least one family member with X-linked genetic relationship (3) Documented FGF23 >30 pg/mL 2. Typical clinical findings of rickets/osteomalacia in the past or present 3. Written informed consent obtained from patients aged >=18 years or from parents or legally acceptable representatives of patients aged <18 years

Exclusion criteria

Exclusion criteria: 1. Participation in any clinical study (trial) sponsored by Kyowa Kirin at the time of informed consent 2. Any patient whose participation in the study is considered inappropriate by the investigator or the subinvestigator

Design outcomes

Primary

Measure	Time frame
Patients aged,<18years:Height,Rickets Severity Score,QOL,and motor function Patients aged >=18years:QOL and motor function	—

Secondary

Measure	Time frame
Patients aged <18 years:Growth velocity, lower limb deformity,biomarkers for phosphorus metabolism and bone metabolism,and fracture Patients aged >=18 years:Biomarkers for phosphorus metabolism and bone metabolism,fracture,spinal ligament ossification,nephrocalcinosis,and renal function	—

Countries

Japan,Asia(except Japan)

Contacts

Public ContactEtsuou Imai

SRD Co., Ltd. Clinical Research Department

khk-xlh@cro-srd.co.jp03-5543-0302

Outcome results