Research and advocacy
What we are campaigning for, why it matters, and how researchers, clinicians and the HPP community can work with us.
Four things we are working to change
Soft Bones Australia is new. We are deliberately starting with a small number of clear, achievable goals rather than a long list.
Fairer access to treatment
Enzyme replacement therapy is registered in Australia but funded only for people whose HPP began before six months of age. Children diagnosed later, and every adult living with HPP, have no subsidised pathway to it.
We want the eligibility criteria examined against current clinical evidence, and a clear, published answer on what options exist for Australians who fall outside them. A Commonwealth review of this listing is due during the second half of 2026, and we intend to be part of it.
Earlier diagnosis
Adults with HPP typically wait around a decade between their first symptoms and a correct diagnosis. Where symptoms start in childhood but are only recognised in adulthood, that gap can stretch past twenty years.
Most of that delay is avoidable. It turns on two things: reading alkaline phosphatase against the right reference range, and recognising that a persistently low result is a signal rather than noise. We are focused on getting that message to GPs, dentists, rheumatologists and pathology services.
Australian data
Nobody knows how many Australians have HPP. There has never been a prevalence study here, and there is no Australian patient registry. Every number used in policy and funding decisions about Australians with HPP is imported from overseas research.
That weakens every argument the community can make. Establishing an accurate Australian picture, in partnership with clinicians and researchers and on terms the community is comfortable with, is a founding objective.
Connected care
HPP needs a team: bone medicine, dentistry, physiotherapy, pain management, genetics. In practice most Australians assemble that themselves, from scratch, often across several hospitals.
We want recognised referral pathways in every state, so that a GP who suspects HPP knows exactly where to send someone, and so that families are not left doing the coordination work alone.
Why this matters now
Rare does not mean unimportant
Australia has a National Strategic Action Plan for Rare Diseases, developed by Rare Voices Australia and endorsed by government. It commits to earlier diagnosis, coordinated care and equitable access. HPP is a clear test case for whether those commitments reach small communities.
The gap is structural
A treatment that exists but reaches only the smallest group of patients is not a clinical problem. It is a decision about criteria, which means it can be revisited, argued and changed.
A community with no voice
Until now Australia has had no HPP patient organisation at all. Australians do not appear on international lists of HPP patient groups. Nobody has been in the room. That is what we are here to fix.
Where the science is heading
HPP research has moved quickly since enzyme replacement therapy arrived. The current areas of active work internationally include:
- Next-generation enzyme therapies. At least two successor enzymes have completed early-phase human trials, aiming for less frequent dosing and better tolerability.
- Gene and cell-based approaches. Still preclinical, but a genuine long-term prospect for a single-gene condition like HPP.
- Adult HPP. Historically neglected. Better characterisation of the adult disease burden, particularly pain, fatigue and quality of life, is now a research priority in its own right.
- Diagnostic criteria. An international working group has proposed formal criteria for diagnosing HPP; these are published but not yet validated.
- Natural history and registries. Long-term international registry data is what made the scale of diagnostic delay visible in the first place.
Australian research
Australia has strong bone and mineral research capability through university groups, medical research institutes and the clinical networks around major hospitals. What it does not yet have is HPP-specific research.
We would like to change that, and we think the most useful contribution a patient organisation can make is to be the bridge: connecting researchers to a community willing to take part, and making sure research questions reflect what actually matters to people living with the condition.
If you are a researcher
We are interested in hearing from anyone working on rare bone disease, mineral metabolism, rare disease health services or diagnostic delay. Get in touch, even if it is only exploratory.
How you can help
Advocacy for a rare condition works on evidence and on voices. Both come from the community.
Tell us you exist
The single most useful thing an Australian with HPP can do right now is let us know they are here. It costs nothing and it is the foundation of everything else.
Register your interest →Share your story
Personal accounts do what statistics cannot. They help other families recognise HPP, and they make the case real for decision-makers.
How story sharing works →Talk to your clinician
Ask whether they know about HPP. Point them to this site. Diagnostic delay is reduced one conversation at a time.
Clinician guidance →Consider research
If a suitable Australian study or registry becomes available, we will let our community know. There is no obligation to take part in anything.
Join the mailing list →Help us build
We need people with lived experience, clinical knowledge, governance, fundraising or communications skills. A new organisation is built by volunteers.
Volunteer with us →Spread the word
Many Australians with HPP do not know the diagnosis exists. Sharing this site with one person who has unexplained bone pain or early tooth loss genuinely matters.
Share the explainer →Working with us
We are actively seeking to work with Australian rare disease organisations, bone and mineral clinicians, researchers, genetic services and HPP organisations overseas.
We are also committed to being transparent about how we operate. As the organisation formalises, our governance documents, board membership, funding sources and annual reporting will be published on this site. If we accept funding from any source with a commercial interest in HPP, we will say so plainly and set out what conditions attach to it.
If you represent an organisation and want to talk, we would like to hear from you.
Reviewed August 2026. Positions described here reflect Soft Bones Australia's stated priorities and are not clinical guidance.