Adult persons with genetically or biochemically verified hereditary hypophosphatemia.

Adult control persons without disturbances in calcium, vitamin D or phosphate homeostasis matched on age, gender and menopausal status.

Whole blood, serum, white cells, urine, and bone tissue.

X-linked Hypophosphatemia

Hereditary Hypophosphatemia

Dept. of Endocrinology and Internal Medicine, The Osteoporosis Clinic

Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls

Characterising Pain, Quality of Life, Body Composition, Arterial Stiffness, Muscle Function, Bone Density and Geometry in Adult Persons With Hereditary Hypophosphatemia and Healthy Controls

Pressure pain threshold assessed by pressure algometry

Assessed by questionnaire (FACT-BP) on a scale from 0 to 4. Higher scores mean a worse outcome.

Assessed by questionnaire (Brief Pain Inventory) on a scale from 0 to 10. 0 meaning no pain, 10 meaning worst pain ever.

Assessed by questionnaire (painDETECT) on a scale from 0 to 10. 0 meaning no pain, 10 meaning worst pain ever.

Assessed by questionnaire (SF36v2) on a scale from 1 to 5. Higher scores meaning a worse outcome.

24 hour blood pressure of the upper right arm

Assessed by tonometry using SphygmoCor system

Assessed by tonometry using Arteriograph24

Handgrip strength, elbow and knee flexion and extension assessed by dynamometer chair (Good Strength; Metitur Ltd, Finland).

Measures the time to stand up, walk three metres in a straight line, and immediately return to the chair.

Measures the time for ten consecutive chair rises.

Measures the time for ten consecutive weight lifts.

Measures the distance walked in 6 minutes.

Assessed by HRpQCT of distal tibia, distal radius, and bone biopsy

Osteoid volume in trabecular and compact bone assessed by histomorphometry on bone biopsy

Osteoid thickness in trabecular and compact bone assessed by histomorphometry on bone biopsy

Osteoid surface covering in trabecular and compact bone assessed by histomorphometry on bone biopsy

Assessed by histomorphometry on bone biopsy

Assessed by questionnaire (Pain Catastrophizing Scale) on a scale from 0 to 4. Higher scores mean a worse outcome.

Assessed by questionnaire (Patient Health Questionnaire) on a scale from 0 to 3. Higher scores mean a worse outcome.

Assessed by questionnaire (Generalized Anxiety Disorder 7) on a scale from 0 to 3. Higher scores mean a worse outcome.

Measured in standing, weight bearing position.

Passive mobility of the neck, shoulder, elbow, wrist, ankle, back, hip and knee will be measured from anatomic neutral position using a protractor and compared to normal values.

BMD at the lumbar spine, femoral neck and distal forearm assessed by DXA

Plasma concentration of ion-calcium taken in a fasting state

Plasma concentration of phosphate taken in a fasting state

Plasma concentration of magnesium taken in a fasting state

Plasma concentration of creatinine taken in a fasting state

Plasma concentration of PTH taken in a fasting state

Plasma levels of 25OHD, 1,25(OH)2D, 24,25(OH)2D, 1,24,25(OH)3D and vitamin D-binding protein taken in a fasting state

Plasma concentration of FGF23 taken in a fasting state

Plasma concentration of sclerostin taken in a fasting state

Plasma concentration of klotho taken in a fasting state

Plasma concentration of osteopontin taken in a fasting state

Plasma levels of bone-specific alkaline phosphatase, osteocalcin, procollagen type I N-terminal propeptide (P1NP), C-terminal telopeptide (CTX)

Plasma levels of tissue non-specific alkaline phosphatase taken in a fasting state

University of Aarhus

Arthroplasty, Replacement, Hip

Intended to prevent periprosthetic loss of bone mineral density

Denosumab

Keck Medicine of USC

Longjohn Amgen Study - Effect of Denosumab...

Effect of Denosumab in Reversing Periprosthetic Bone Loss Following Hip Replacement

The primary outcome variable will be the difference in loss of bone mineral density between the experimental group taking denosumab and the placebo control group.

Bone turnover differences between the experimental group taking denosumab and the placebo control group.

Donald Longjohn

Assistant Professor of Clinical Orthopaedics

University of Southern California

Orthopaedic Institute for Children

Bone marrow (BM) will be collected from healthy patients undergoing orthopedic surgery. BM will be collected from disposable tissue that is removed during the normal sequence of the surgery.

Collection of connective tissue from patients with tumors of musculoskeletal origin - a part of the resected tumor specimens.

1. Bone marrow will be collected from othewise healthy patients undergoing orthopedic surgery - arthroplasty for the treatment of degenerative joint disease or traumatised patients. The bone marrow will be collected from disposable tissue that is removed during the normal sequence of the surgery. 2. Collection of connective tissue from patients with malignancies of musculoskeletal origin. The tissue that will be used is part of the resected tumor specimens. The tissue will be used for:

Group 1: Trauma Operation for Otherwise Healthy Patients

Group 2: Primary Tumors of Mesenchymal Origin

Rambam MC

The Role of RING Ubiquitin Ligases in Biologic and Oncologic Processes in Tissues of Mesenchymal Origin

To determine the levels of RING ubiquitin ligases mRNA and protein in differentiating human mesenchymal precursor cells. We will extract mesenchymal precursor cells from the collected tissue and test the mRNA and protein levels of RING ubiquitin ligases upon induction of differentiation.

It is not clear if RING ubiquitin ligases protein levels are elevated in soft tissue-derived cancers (primary and metastatic tumors) and whether there is a correlation between RING ubiquitin ligases levels and staging and grading of soft tissue-derived cancers. For this reason, we will check whether RING ubiquitin ligases expression correlates with cancer development and progression in human-derived samples. We will determine the relevance of RING ubiquitin ligases to human musculoskeletal cancers. To do this we will screen primary tumor biopsies for RNA and protein levels of RING ubiquitin ligases .

Rambam Health Care Campus

Technion, Israel Institute of Technology

pelvic compartment advanced-stage (Kellgren and Lawrence grade 3 or 4) osteoarthritic donors

osteoarthritis/phosphatase

Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls

Longjohn Amgen Study - Effect of Denosumab...

The Role of RING Ubiquitin Ligases in Biologic and Oncologic Processes in Tissues of Mesenchymal Origin

Mesenchymal Stromal Cells and Osteoarthritis

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