Rare, one patient at a time.
Understood, together.
The Rare Metabolic Bone Disease Registry keeps a longitudinal clinical research record for patients with conditions so uncommon most physicians encounter them once in a career — from Osteogenesis Imperfecta to Tumour-Induced Osteomalacia. Built for treating doctors, not patients.
"Most of these diagnoses, a clinician sees once. The registry is what lets them see it a hundred times."
Rare metabolic bone diseases don't behave like common conditions. Any single hospital might see a handful of Fibrous Dysplasia patients a year, one or two with Hypophosphatasia, and perhaps none at all with a given skeletal dysplasia. That scarcity is exactly what makes them hard to diagnose quickly, hard to treat consistently, and nearly impossible to study without pooling cases across sites.
The RMBD Registry exists to close that gap. Every enrolled patient's diagnosis, visits and outcomes are captured in one structured, longitudinal record — so a rare presentation stops being a one-off mystery and starts contributing to a shared, growing body of clinical experience. Your registry and your patients stay private to you; no other doctor on the platform can see them.
A wide, deliberately uncommon spectrum
Every condition below is drawn from real enrolments in the Rare Metabolic Bone Disease Registry — not a generic disease list.
Osteogenesis Imperfecta
Brittle bone disease, across multiple clinical subtypes.
Tumour-Induced Osteomalacia
Phosphate-wasting osteomalacia driven by a tumour.
Fibrous Dysplasia & McCune-Albright
Monostotic, polyostotic and syndromic presentations.
Paget's Disease of Bone
Monostotic and polyostotic bone remodelling disorder.
Hypophosphatemic Rickets & Osteomalacia
Including X-linked and acquired phosphate-wasting forms.
Hypophosphatasia
Inherited disorder of bone and tooth mineralisation.
Osteopetrosis
Abnormally dense, brittle bone from impaired resorption.
Sclerosing bone dysplasias
Melorheostosis, Camurati-Engelmann, Sclerosteosis, Pyknodysostosis.
Enchondromatosis
Ollier disease and Maffucci syndrome.
Renal Tubular Acidosis-related bone disease
Metabolic bone disease secondary to distal RTA.
Tumoral Calcinosis
Periarticular calcified mass deposition.
Skeletal dysplasias
Achondroplasia and related short-stature disorders.
Don't see your diagnosis listed? The registry accepts referrals across the full range of rare metabolic and structural bone disorders — get in touch and we'll confirm fit.
From first contact to a lasting record
Reach out
A treating doctor sends basic patient details through the contact form below.
Clinical review
The registry team confirms the diagnosis fits and reaches out to arrange enrolment.
Enrolment
The patient's history and baseline details are recorded in a dedicated, structured record.
Ongoing follow-up
Each subsequent visit adds to the same record — building a real longitudinal picture over time.
Reach the registry team
For treating doctors and research teams — to enrol a patient with a rare bone disease, or refer a case.