Application Detail

Description of Medical Service

Analysis of plasma or serum fibroblast growth factor 23 (FGF-23) for patients with a high pre-test probability of X-linked hypophosphatemic rickets to determine eligibility for burosumab.

Description of Medical Condition

Hypophosphatemic rickets is a condition in which, due to abnormal excess production of an endocrine hormone FGF23, there is excessive loss of phosphate in the urine that results in low serum phosphate. Because phosphate is an essential element in the formation of hydroxyapatite, the mineral that deposits on osteoid protein to produce a rigid skeleton, low phosphate levels produce under mineralisation of the skeleton, a condition called rickets or osteomalacia.

A small number of individuals, perhaps 300 in Australia, have developed osteomalacia because of phosphate deficiency due to excessive FGF23 production. In over 80% of cases this is due to an inactivation mutation in the PHEX gene that is an important negative regulator of the production of FGF23.

Reason for Application

New MBS item

Medical Service Type

Investigative technology

Previous Application Number/s

Not Applicable

Associated Documentation

Application Form

Application Form (PDF 204 KB)
Application Form (Word 44 KB)

Consultation Survey

Consultation Survey (PDF 165 KB)
Consultation Survey (Word 29 KB)

MSAC Consultation
MSAC consultation input closed Friday, 14 June 2024.

For further information please refer to PASC, ESC, MSAC Key Dates
For further information on the consultation process please refer to MSAC Consultation Process

PICO Confirmation

-

Assessment Report

-

Public Summary Document

Public Summary Document (PDF 418 KB)
Public Summary Document (Word 144 KB)

Meetings for this Application

PASC

Expedited - Bypassing PASC

ESC

Expedited - Bypassing ESC

MSAC

1-2 August 2024