Joe Hiller, who has a rare
inherited disease, has become the first person in the world to
participate in a new trial which could alter the lives of fellow
sufferers. Joe who is four years old and from
Shropshire has the condition, Hunter Syndrome, which affects around
80 people in the UK. The Royal Manchester Children's Hospital
is the only hospital in the UK to be delivering the study.
Hunter Syndrome (also called
mucopolysaccharidosis Type II or MPS II) is a progressive and
life-threatening disease that primarily affects males. The syndrome
is usually diagnosed in childhood, with sufferers having
difficulties growing normally and with hearing, skin changes,
frequent ear, nose and throat infections, joint problems, and
Parents, James and Emma Hiller,
were first prompted to seek medical advice, because they were
concerned about the development of Joe's speech and that he always
seemed to have a runny nose. Joe was diagnosed with the
condition when he was three years old. He is one of six
patients the NIHR/Wellcome Trust Manchester Children's Clinical
Research Facility hopes to recruit to take part in the new
The study aims to test a new treatment that researchers hope
will reduce the developmental delay and improve the learning
ability of patients with Hunter Syndrome. Neither Joe's
parents nor the hospital can reveal whether Joe is on the treatment
or control arm of the study, as this would skew the results.
However, all involved hope that the study will demonstrate that the
new treatment is effective and safe.
Father, James Hiller, explains why taking part in research is a
good opportunity: "Joe received the first few months of clinical
treatment, enzyme replacement therapy, at Birmingham Children's
Hospital. Joe has more recently been able to have this
therapy at home, and this seems to have helped with his general
movement and stiffness.
"Joe is happy and content, but his speech is behind that of
other children his age. When the consultant at Birmingham
explained that there was a research study in Manchester that might
address Joe's developmental symptoms, we felt that it was really
important for us to get involved. The support we've received
from doctors and The Society for Mucopolysaccharide Diseases in
understanding Joe's condition has been great."
Professor Dame Sally C. Davies FRS FMedSci, Chief Medical
Officer and Chief Scientific Adviser at the Department of Health,
said: "This trial will help to develop treatments to improve
the lives of patients with this difficult and debilitating
condition and their families. I am delighted the first patient to
be recruited is in Manchester. Clinical research such as this
brings hope to those affected by rare diseases. As described
in the Strategy for UK Life Sciences, the National Institute for
Health Research's investment in clinical research infrastructure in
the NHS supports world-leading researchers and facilities to
support the life sciences industry and providing faster access for
patients to new treatments."
The study is being led by Dr Simon Jones, Consultant in
Paediatric Inherited Metabolic Disease at Saint Mary's Hospital,
Manchester. Dr Jones, who is also Honorary Senior Lecturer at
The University of Manchester, explains: "We are very keen to have a
treatment that can change the learning ability of our patients, as
this is clearly an area that needs a treatment and we are excited
to be part of this trial".
Clinical Research Fellow and Speciality Trainee in Clinical
Genetics, Dr Catherine Breen, adds: "The children that take part in
our research studies have complex medical needs, so their care must
be carefully coordinated by a specialist team. It's our
specialist knowledge and infrastructure that enables The Royal
Manchester Children's Hospital to deliver studies like this
The Clinical Research Facility provides dedicated 24-hour
research space/beds, and dedicated and highly trained research
nurses to cover overnight stays as well as the 1:1 patient care
required by the study. "
The study is sponsored by Shire and supported by the National
Institute for Health Research Clinical Research Network.
more about our research across all clinical areas.
Note to Editors
About International Clinical Trials Day
International Clinical Trials Day is on or around 20 May each
year and commemorates the anniversary of the very first clinical
trial by James Lind. CMFT is one of a number of Trusts
celebrating International Clinical Trials Day in 2014, and under a
single theme of 'it's okay to ask', set by the National Institute
for Health Research (NIHR). By focusing our efforts on one
theme nationally, we hope to have a greater impact.
The theme 'it's okay to ask' is intended to empower members of
the public to have the information and confidence they need to
raise the subject of clinical research with their doctor if they
About this study
The study will assess the safety and effectiveness of the
intrathecal use of the medicine Idursulfase-IT (HGT-HIT-094), in
paediatric patients diagnosed with Hunter Syndrome and with early
The patients taking part in the study are already receiving
Idursulfase (Elaprase®) intravenously (an injection into the
vein). However, as the medicine is unable to reach the brain
due to the blood:brain barrier, it is unlikely to reduce the
cognitive impairment, associated with the condition.
By administering the medicine intrathecally, directly to the
child's brain via the fluid around the spinal cord, clinicians will
be able to assess the safety of the medicine and its effectiveness
in reducing cognitive impairment.
Patients taking part are randomised to the control arm or the
treatment arm of the study. All patients will continue to
receive Elaprase therapy intravenously throughout the study.
The patients on the treatment arm of the study will receive
intrathecal Idursulfase-IT for 12 months via a surgically implanted
intrathecal drug delivery device. All patients will be
invited back regularly to the National Institute for Health
Research/Wellcome Trust Manchester Children's Clinical Research
Facility at The Royal Manchester Children's Hospital, where the
study is taking place.
Central Manchester University Hospitals NHS Foundation
Trust is a leading provider of specialist healthcare services
in Manchester, treating more than a million patients every year.
Its eight specialist hospitals (Manchester Royal Infirmary, Saint
Mary's Hospital, Royal Manchester Children's Hospital, Manchester
Royal Eye Hospital, University Dental Hospital of Manchester and
Trafford Hospitals) are home to hundreds of world class clinicians
and academic staff committed to finding patients the best care and
The NIHR/Wellcome Trust Manchester Clinical Research
Facility (MCRF) is a purpose-built unit focused on
supporting experimental medicine research helping to bring new
drugs and medical devices into patient care. The facility is
based at Central Manchester University Hospitals NHS Foundation
Trust and receives funding from the National Institute for Health
Research (NIHR). The MCRF offers state-of-the-art equipment and
facilities for adult and children's studies, and has a team of
specialist research nurses and support staff. A satellite unit the
Children's CRF in the Royal Manchester Children's Hospital is at
the cutting edge of research into inherited renal, metabolic, and
For further information see: www.wtcrf.nhs.uk and www.childrenscrf.org
The National Institute for Health Research
The National Institute for Health Research (NIHR) is funded by
the Department of Health to improve the health and wealth of the
nation through research. Since its establishment in
April 2006, the NIHR has transformed research in the NHS. It has
increased the volume of applied health research for the benefit of
patients and the public, driven faster translation of basic science
discoveries into tangible benefits for patients and the economy,
and developed and supported the people who conduct and contribute
to applied health research. The NIHR plays a key role in the
Government's strategy for economic growth, attracting investment by
the life-sciences industries through its world-class infrastructure
for health research. Together, the NIHR people, programmes, centres
of excellence and systems represent the most integrated health
research system in the world. For further information, visit the
NIHR website (www.nihr.ac.uk).
About the NIHR Clinical Research Network
We provide researchers with the practical support they need to
make clinical studies happen in the NHS, so that more research
takes place across England, and more patients can take part.
This practical support includes:
- Reducing the "red-tape" around setting up a study
- Enhancing NHS resources, by funding the people and facilities
needed to carry out research "on the ground"
- Helping researchers to identify suitable NHS sites, and recruit
patients to take part in research studies
- Advising researchers on how to make their study "work" in the