A patient registry is an organized system to collect uniform data from many patients and their physicians. It is a means to document features of disease, to improve the delivery of care, and to facilitate research to develop and test new treatments. Patient registries can address the lack of information associated with rare diseases. They bring together a critical mass and allow the whole of the disease community to be visualized.
Fibrous Dysplasia (FD) of bone is a rare disease caused by spontaneous genetic mutations in G-protein coupled receptor/cAMP-regulating protein, Gs alpha that occur shortly after conception. As such, it is not hereditary. When the mutation occurs in endocrine and skin tissue as well as bone it is known as McCune-Albright syndrome (MAS). Signs and symptoms of the disease in the skeleton include soft tissue lesions which can result in deformity, fracture, and severe pain. In MAS, the effect of the gene mutation on endocrine tissues can result in abnormalities in the body’s rate of growth, precocious puberty, and other dysfunctions.
Treatment of fibrous dysplasia is hampered by patient’s lack of access to knowledgeable clinicians and a general lack of information about:
- the way the disease develops over time (its natural history)
- the patient experience of the disease and its impact on quality of life
- how and when diagnoses are made
- the scope of treatments in use
- what surgical techniques work best
- what medical interventions work best
- what social services and therapies are useful
- the costs of care to patients and their families
- issues that concern patients (such as the impact of pregnancy on FD or children feeling different and facing stigma)
About the Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) Patient Registry
In order to accelerate translational efforts (moving from basic laboratory research to meaningful health outcomes, such as therapies and treatments) related to FD/MAS, the Fibrous Dysplasia Foundation has established the FD/MAS International Registry. The Registry is important for characterizing and understanding these diseases better. Not only will the Registry provide valuable information for families and doctors to make the best care decisions possible, it will be important to help researchers decide what are the most important challenges to address. The Registry will also help scientists find out if there are any FD / MAS patients who might be a good match for their research studies.
The Fibrous Dysplasia Foundation Patient registry is a collaboration involving:
|Fibrous Dysplasia Foundation||Patient Advocacy Organization
Oversight and investigator vetting
|National Organization for Rare Disorders||Software provider and security management|
|Patient Centered Outreach Research Institute||Capacity building|
|Global Rare Disease Registry Network||Integration of de-identified data|
A portion of this project was funded by PCORI an independent, non-profit organization authorized by Congress in 2010 to fund comparative effectiveness research that will provide patients, their caregivers, and clinicians with the evidence needed to make better-informed health and healthcare decisions. PCORI is committed to seeking input from a broad range of stakeholders to guide its work.