NIHR UK Rare Genetic Disease Research Consortium Agreement
There are over 7000 rare diseases, most being the result of a
genetic disorder. In the 1980's and 90's great progress was made in
understanding the cause and improving the care of patients affected
by this group of conditions which collectively affect 1 in 17
people in the UK. Sadly, an unintentional consequence of modern
research governance is that small scale projects largely dried up.
The common practice of genetics teams joining forces to investigate
a particular rare disorder fell foul of the need for individual
contracts and material transfer agreements. In most cases, there
were more administrative staff involved in the permission process
than there were patients in the UK with the disease. The present
system is deeply frustrating to families urging research groups to
work on their disease. As our capacity to identify the underlying
cause increases the disproportionate bureaucracy is shown in stark
At a meeting of NIHR Senior Investigators John Burn and his
team were tasked with working with NOCRI to develop a national
agreement applicable to non-CTIMP rare disease projects with
minimal local hospital costs whereby when one of our regional
genetics centres, supported by their NHS Trust, developed a rare
disease non-CTIMP project, the R&D team responsible for all the
other regional genetics centres would sign off without a full
review of protocol and the need for individual negotiations.
In 2012, representatives of most Trusts with regional genetic
centres met in London and there was broad agreement to proceed. The
agreement has been assembled by a Trust and University lawyer from
Cambridge and Southampton, originally selected by the NIHR because
of their expertise and involvement on other NIHR agreement
initiatives, and who have consulted a few of your R&D leads.
The cost to trusts will be minimal and each will benefit from
portfolio recruitment funding. The benefits to people with rare
disease will be significant. It is hoped that every centre in the
UK joins the agreement - the "Musketeers' Memorandum"- all for one
and one for all!
For further information contact Dr Gill
The Agreement was circulated on Tuesday 21st May 2013 for
final signature and fully executed on 23rd November 2013.
The first amendment to the Agreement was circulated on 25th July
2014. This Agreement is now fully executed with the Royal
Marsden Hospital now being party to the Agreement.
Musketeers' Memorandum Agreement (Amendment 1, 25th July
Schedule 1 -
Access Policy 14th April 2014
The Parties who sign up to this agreement and the research
studies approved under this agreement will be recorded on this
If you are the CI of a study and you would like it to be
considered under this Agreement please contact email@example.com.
All studies need to fit the Rare Genetic Disease definition of an
illness caused by abnormalities in genes or chromosomes and
affecting less than 5 in 10,000 of the general population.
Update 27th April 2016: The last
Musketeers study has been circulated today for approval; to date 32
rare genetic disease research studies have gained NHS permissions
under the Musketeers' Memorandum. Due to the recent change in the
English approval process we are working with the HRA and the NIHR
CRN to integrate the Musketeers' Memorandum 3 day approval with the
new system. The studies will be guided regionally by the lead site
R&D teams and the Regional NIHR CRN genetics lead. There are
already studies listed on this website to be approved with the new
HRA process. The new process may include standardising the HRA
Statement of Activities, and a review of the Musketeers'
For further information please
contact Dr Gill