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Back in February Amy Dockser Markus in an article on natural history studies for rare diseases in the Wall Street Journal  (WSJ) had a quote that has resonated with me “The parents want different scientists researching the diseases to share data about the patients so the children won’t need to participate in so many studies.”

One could read into this on so many levels.  As a parent who has not undergone what a parent with a child of a rare disease or ultra-rare disease has had to, you really have to put yourself in their shoes. First your child is suffering from a potentially fatal disease for which there is no cure or treatment, they need continuous attention and support and you have to travel half way around the country for a clinical study for several days so the doctors can learn more about the progression of the disease or receive a treatment. Then another research center wants your child for their study and you have to repeat the process which may involve the same time intensive and emotional commitment (and also requires your child to give multiple tissue samples, and possibly anaesthesia). This definitely makes you wonder why people do not as a ‘standard’ share such data to reduce duplication.

But here is the pill we have to swallow, in order to get scientists to share their data they need an incentive.  The WSJ article describes how several groups of parents offered to raise $550,000 to cover the costs for a study on the condition the information is shared. The article describes how several Sanfilippo Syndrome foundations are funding such a natural history study1 at the Nationwide Children’s Hospital: The Sanfilippo Research Foundation (Ben’s Dream), The Children’s Medical Research Foundation (Cure Kirby) and The Sanfilippo Childrens Research Foundation (Life for Elisa.). Another group of patient advocates (JJB/HANDS consortium) has started funding a Natural History Study for Sanfilippo types C and D. In this case the patient populations are even smaller than for Types A and B and the patient populations are more geographically disparate so there may only be one shot to get this right. With ultra-rare diseases there isn’t much historical data on the disease and they therefore provide data about the progression of the disease and provide the benchmarks that will be used in clinical trials in order to gain FDA approval.


In parallel with these Natural History Studies, a Sanfilippo Patient Registry has also been developed to help disseminate information for upcoming clinical trials and to identify patients that would like to be part of trials.  The registry was donated to the Sanfilippo Community by the Patient Crossroads CONNECT program, is sponsored by multiple Sanfilippo patient advocacy groups and includes all Sanfilippo subtypes A-D. Most importantly this registry is open to the worldwide community. Such a registry can show definitively how many Sanfilippo patients there are and help inspire pharmaceutical companies to address this patient population with potential treatments2.

The involvement of patient / parent led organizations in these pivotal Natural History Studies and clinical registries shows their impact in rethinking clinical studies and how they are driving more open science and collaboration. Which begs the question what else can they do? The common sense approach they are instilling in rare and ultra-rare diseases could transfer to other diseases. For example imagine if much more clinical and preclinical data was shared and opened up, could it be used to promote an explosion in knowledge growth on diseases of all types? If more scientists collaborated and shared their data could we translate good ideas to the clinic faster and get them approved? Ultimately all of these ideas probably come back to incentives and that means money. If more and more research is funded by rare disease patient / parent led organizations they will have more influence. If they insist on no university or low university research overheads it could drive costs down. If they insist on open data and more collaboration it could stimulate more fundamental research on rare diseases and innovative ways to share data such that there is more progress. Ultimately it comes back to the patient the parents are caring for, they need a treatment. The traditional approach is failing and so what else is there to do but try the obvious experiment. Open up data, share and create a new research environment. They are proving with limited money and resources they can impact clinical and preclinical research and be a force to be reckoned with.



1 There will be a webinar (Tuesday October 8th at 2pm) providing invaluable information to those that would like to qualify for this NHS for Sanfilippo Syndrome A and B.


2 Because it’s a global resource in order for non-English speakers to understand it there is access to Google translator on the site, but there is additional help offered.

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