The pros and cons of a rare diseases registry

Rare diseases are highly complex, but data can help overcome the challenges of small population sizes. However, it must be treated with care


A row of human samples for analytical testing including blood, urine, chemistry, proteins,anticoagulants and HIV in lab

Data is a saviour in many settings, prized like gold or oil.  For rare diseases, its value is immense, with a power to accelerate understanding and advance treatment.

Rare diseases – conditions that affect fewer than one in 2,000 people - are at an inherent disadvantage when it comes to drug development. Their small population sizes create logistical, legal and economic roadblocks to clinical trials. 

Registries collate patient histories and responses across aspects of a particular disease. They can play a vital role in understanding disease trajectory, helping to create clinical trials that meet safety and efficacy criteria despite their low enrolment: many have fewer than 100 patients worldwide.

But as with all healthcare data sets, there are concerns around how that data is curated and used, with campaigners calling for greater transparency.

Raising standards 

EURORDIS, an alliance of patient organisations representing 974 rare disease patient organisations in 74 countries, believes registries are a vital component in improving the lives of the 30 million people affected by rare diseases throughout Europe.

“They are a core part in advancing knowledge, care and the development of treatments,” says Anna Kole, EURORDIS’s public health policy director. “Because these conditions are so rare, data is scarce and it is a struggle to reach the thresholds for clinical trials, care standards and health policy decisions.”

Because these conditions are so rare, data is scarce

Pooling data for clinical and epidemiological research and stratifying patients improves the design of clinical trials, she explains, and the chances of finding eligible patients. It also means researchers can follow a cohort of patients over time to track the natural history of a disease, helpful both for clinical trials and developing standards of care, she explains. 

“It may not lead to a curative treatment, but it can track what is working and what doesn’t work to inform care for people.”

A recent EURORDIS Rare Barometer survey among rare disease patients recorded 100% approval of data sharing for research, with 80% wanting to keep a level of control. 

“But control simply means people who share their data just want to know 

the who, how and why their data might be shared – being informed, engaged and involved in where the data is helping research,” says Kole.

A lot of patient organisations are starting registries themselves, she adds, because they can be pivotal to advance prospects for their particular condition. Research shows that conditions with a registry combined with a well-connected community of clinical specialists and a threshold of publications have more potential to improve care, create clinical trials and the opportunity to ultimately develop treatments.

“They are seen as a way of getting past a bottleneck,” she adds. 

Data is protected by a range of relatively new legislation including General Data Protection Regulation (GDPR), but these were not designed with patient registries in mind.

“Good and clear regulatory controls are also key to patient registration and the GDPR can be difficult to navigate,” says Kole. “There shouldn’t be unnecessary hurdles and in this fast-changing area we need wider discussion so that patient data can be collected and shared more efficiently but without risking the privacy or expectations of patients.”

Safety fears

The benefits are clear. Patient registry data successfully acted as the control arm in a clinical trial for a new enzyme replacement treatment for Pompe’s disease, according to a paper in the Orphanet Journal of Rare Diseases. Pompe’s disease is a glycogen storage condition that’s currently diagnosed in less than 200 patients in the UK. Without the help of the registry, the drug wouldn’t have made it to a clinical trial and subsequent approval.

Every patient should know where their data is being used

But the use of patient data has a shaky heritage. Landmark cases have stoked fears over commercial access to data sets that still reverberate today, tainting data safety assurances. Such cases include the Royal Free Hospital’s move to share kidney patient information with Goodle’s DeepMind subsidiary without consent, or the NHS’s abandoned care.data scheme. 

Likewise, a research study into the genetic and environmental factors of autism ran into trouble earlier this year when protestors claimed the DNA data could be misused by researchers wanting to cure or eradicate autism rather than advance understanding.

MedConfidential, an independent organisation that campaigns for confidentiality and consent in health and social care, believes more work is needed to ensure patient data is stored safely and used ethically.

“Every patient should know where their data is being used and there should be no surprises,” says Sam Smith, MedConfidential co-ordinator. 

Smith advocates tighter consent protocols, greater transparency and the ability for people to check a central database to see where their data is being used.

“The NHS can act as honest broker here,” he adds. “We want to see a system where a legitimate researcher can log into a computer to analyse the data and take the analysis away, not the data. This gives researchers more data and there is more accountability and confidence.”

Life-changing results

EURORDIS is campaigning for better patient registry standards and practices, including shared quality assurance and data security standards.

“In recent years, registries have been cross-linking clinical data, confirming genetic mutations and underlying symptoms, that helps speed this along,” adds Kole.

The cystic fibrosis community has also benefited, she says, with the registry used to improve standards of care. Life expectancy for those with the condition was improved because people received care in accredited, well-networked centres, where it was possible to monitor and share information on dosages or avoiding infections. 

“As a result, better standards of care and disease management led to a dramatic increase in life expectancy, thanks to the patient registry.”