E83.3
Conditions
Interventions
Group 1: Study Section I:
Patients with Hypophosphatasia document their diet for 7 days. Number of study participant: 20
Study Section II:
Patients with Hypophosphatasia implement low-phosphorus diet
Sponsors
Klinische StudieneinheitOrthopädische Klinik König-Ludwig-HausLehrstuhl der Universität Würzburg
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
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
Exclusion criteria: Section I,II: - Severe chronic diseases >Renal insufficiency, CKD 4 + 5 (eGFRCurrent 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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Study Section I: - Nutritional intake of phosphorus, using a 7-day food diary, one-time survey (cross-sectional study) Study Section II: - FGF-23, by blood test, examination at the beginning and at the end of the intervention period | — |
Secondary
| Measure | Time frame |
|---|---|
| Study Section I: - Macronutrients: KH, fat, proteins, fiber, water - KJ / Kcal (compared to demand) - Minerals: Calcium, magnesium, zinc - Vitamins: B6, C, D, E - Fatty acids Arachidonic acid, EPA, DHA, linoleic acid, alpha-linolenic acid, percentage of saturated/monounsaturated/polyunsaturated fatty acids Survey using a 7-day food diary, one-time survey (cross-sectional study) Study Section II: - Musculoskeletal symptoms, based on questionnaires and clinical functional testing - Laboratory parameters: > Blood: Kidney (creatinine and C-clearance, Blood Urea Nitrogen/BUN) - Bones (ALP + isoenzymes, PLP, NTx) - Electrolytes (Calcium, Phosphate, Potassium, Natrium, Magnesium) - Hormones (TSH, PTH, Vit. D) - Inflammation (CRP, ESR) - Parameters of iron metabolism (Iron, Ferritin, Transferrin) > 24h Urine: - PEA, Creatinine, Calcium - Gastrointestinal symptoms based on questionnaires - Mental fitness, based on questionnaires Collection by means of blood and urine tests, questionnaires and clinical functional tests, examination at the beginning and at the end of the intervention period | — |
Countries
Germany
Contacts
Public ContactKatinka Kühn
Institut für Lebensmittelwissenschaft und HumanernährungGottfried Wilhelm Leibniz Universität Hannover
Outcome results
None listed