utritional Status and dietary Effects on Phosphorous metabolism and clinical Symptoms in Hypophosphatasia

Not Applicable

• Conditions: E83.3; Disorders of phosphorus metabolism and phosphatases

• Registration Number: DRKS00015225
• Lead Sponsor: Klinische StudieneinheitOrthopädische Klinik König-Ludwig-HausLehrstuhl der Universität Würzburg

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2018-08-14
• Results First Posted: 2020-06-05
• Study Completion: 2021-04-22
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 77

Inclusion Criteria

Section I,II:
- Adult males and females (age >18 years)
- Established diagnosis of Hypophosphatasia
- Reduced Serum/Plasma ALP-Activity below age and sex specific reference range of the respective test kit applied (measured at least twice with a minimum 4 week interval)
- At least one of the items below
>Genetically confirmed ALPL-Mutation
>Elevated PLP (urine or serum), above ULN
>Symptoms of the disease
- Signed informed consent

Section I (control group):
- Adult males and females (age >18 years) without Hypophosphatasia
- Signed informed consent

Exclusion Criteria

Section I,II:
- Severe chronic diseases
>Renal insufficiency, CKD 4 + 5 (eGFR<30ml/min/KO)
>Current or past history of solid or haematological neoplasia; patients are eligible when clinically stable (as judged by the investigator) and diagnosis of this neoplasia dates back > 5 years.
- Inflammatory bowel disease, or history of colostomy or small or large intestine bowel surgery where resection was performed
- Coagulopathy
- Intake of phosphate binders or Dialysis
- Ongoing treatment with glucocorticoids >7,5mg/d prednisolone-equivalent
- Current/previous treatment with Asfotase alfa (ERT) (section I), Current/recent treatment with Asfotase alfa (ERT) within the last 3 months before enrollment
- Regular use of laxatives
- Intake of nutritional supplements (exception: Vit.D, magnesium) (this exclusion criteria doesn’t apply to section 1)
- Pregnancy or lactation
- Addiction to drugs or alcohol
- Current participation in another clinical study
- Withdrawal of consent

Study & Design

• Study Type: interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Study Section I:<br>- Nutritional intake of phosphorus, using a 7-day food diary, one-time survey (cross-sectional study)<br><br>Study Section II:<br>- FGF-23, by blood test, examination at the beginning and at the end of the intervention period<br><br><br>