January 2014

CGD Society newsletter January 2014
  Dear CGD Society members,
Welcome to our first newsletter of 2014. We hope you find the information below of interest. If you would like to suggest a story for a future edition, please do get in touch.
  Dr Reinhard Seger
It is with regret that we said goodbye in 2013 to long-term member of the CGD Society medical panel, Dr Reinhard Seger. Dr Seger had been involved with the charity for over 15 years and as a world leading expert on CGD provided invaluable guidance and advice to us in his role on both our medical and research advisory panels. We would like to express our sincere thanks to Dr Seger for all his work on behalf of the CGD Society and CGD patients, and wish him a happy and long retirement.

  Dr Janine Reichenbach
We are delighted to welcome Dr Janine Reichenbach to our medical advisory panel. Dr Reichenbach is a consultant in immunology, haematology and bone marrow transplantation at the Children's Hospital in Zurich, Switzerland and has worked for many years alongside Dr Seger. In addition to her clinical work, Dr Reichenbach is involved in developing gene therapy for the p47phox deficient form of CGD.

  Dr Sergio Rosenzweig
We also have the pleasure of welcoming Dr Sergio Rosenzweig to our medical advisory panel. Dr Rosenzweig is the Director of the Primary Immunodeficiency Clinic at the National Institutes of Health in the USA. He is a paediatrician and immunologist with more than 20 years' experience in hands-on diagnosis, treatment, follow up and research on primary immunodeficiency diseases. In addition to his contributions to the field of chronic granulomatous disorder and the diagnosis and treatment of primary immunodeficiency diseases, Dr Rosenzweig is currently working on genetic susceptibility to fungal infections.
  Guide for medical professionals
You will find our Guide for Medical Professionals available to download from our website and order from our webshop. This guide is written by medical professionals for medical professionals and will help those unfamiliar with CGD better respond to your everyday and acute health issues.



  Guide for parents
Can you help us review a guide for parents whose child has been diagnosed with CGD? In spring 2014, we will be ready with the first draft of our new Guide for Parents to help those whose child has recently been diagnosed with CGD. If your child has been diagnosed with CGD in the last two years and you would be willing to help review this draft and provide feedback, we would very much like to hear from you.
  New advances in BMT for CGD patients
A landmark study published in the medical journal, The Lancet, has shown the success of using a more gentle form of chemotherapy (referred to in the article as 'reduced intensity conditioning') on patients before they undergo a BMT. The study involved 16 centres in 10 countries around the world, and three-quarters of the patients treated had what clinicians call 'high-risk' features. You can find a summary of these research findings together with a link to the abstract of this publication in our newsroom.

  Patients' stories on our website
During the past year we have been developing the area of our website dedicated to BMT. If you are considering a BMT for your child, please do check the website regularly for new material. In recent months we have added new information about the fertility issues associated with BMT as this is a subject we are often asked about by families:

We are keen to continually add to our website stories of patients who have undergone a BMT because we know from members' feedback how important it is for families to read about the experiences of others. If you would be willing to share your story or your photos, please do contact us.

We are very grateful to the following children and parents who have so generously shared their stories with us recently; Joe and his mother, Gillian; Tom and his mother, Jackie, and Alfie and his mother, Cathy.

  Can you help us review some films that we have made about BMT for CGD patients?
Alfie and his family courageously allowed the CGD Society to film both Alfie's BMT and his brother's bone marrow donation process and we now have a first edit of these films. Before uploading these films to our website, we would like to have them reviewed by a number of parents whose children have had a BMT in 2012 or 2013. If you would like to help us and are willing to provide feedback, please do get in touch.
  Calling all female carriers of X-linked CGD who live in the UK
Would you like to be involved in an important study exploring carrier health issues? Dr Alex Battersby is heading up this research on behalf of the Great North Children's Hospital in Newcastle and Great Ormond Street Hospital in London and would like to hear from any female carriers of X-linked CGD who live in the UK and are interested in taking part. The aim of the study is to see if carriers have significant medical problems that have not been previously described in the literature. At present more than 50 women are enrolled in the project but the more women who take part, the better the learning and conclusions will be. You can read more about this project here and please contact Alex (a.battersby@ncl.ac.uk) if you want to know more about what would be involved if you volunteer.

  New gene therapy trial for X-linked CGD gets go-ahead
The British Medicines and Healthcare Products Regulatory Agency has approved a new gene therapy clinical trial for X-linked CGD to start at Great Ormond Street Hospital in London. It will form part of a multicentre trial with centres in Germany, Switzerland, France and the USA. The trial uses the lentiviral vector designed and developed through CGD Society funding of over £1 million to Professor Adrian Thrasher at Great Ormond Hospital, London, and Dr Manuel Grez at Georg-Speyer-Haus in Frankfurt. You can read more about this trial here.

  Input needed on the development of a stem cell bank for disease-relevant cell lines
We would like to encourage all CGD researchers in Europe to take part in a short survey on a new initiative called the EBiSC project. This project aims to establish a European centralised, not-for-profit cell line bank providing users with access to scalable, cost-efficient and customised induced pluripotent stem cell (iPSC) products.

The project leaders are looking to develop evidence as to what the research community and diverse stakeholders would like to see in the cell line catalogue, based on either current or future needs for disease representative lines. If you would like to give feedback, you are invited to complete the short survey here.
  Nursing support for patients in the UK
In 2013, the CGD Society combined access to paediatric and adult nursing services through our Clinical Nurse Specialist, Helen Braggins. Helen provides a comprehensive service for children, adults and female carriers of X-linked CGD. Helen works closely with the bone marrow transplantation unit and family clinic at Great Ormond Street Hospital, and attends the adult clinics at the Royal Free Hospital with Dr. Ronnie Chee and his team. To contact Helen, please consult our website.

  Change of dates for adult CGD clinics at the Royal Free Hospital
CGD clinics now take place at the new Institute for Transplantation and Immunity unit at the Royal Free Hospital in London. Please note that the day of the clinics has changed recently from Tuesdays to Wednesdays. For further information and to find out clinic dates please click here.
  The CGD Society is run by a very small part-time team. The charity receives no funding from public bodies and supports members from around the world whose number increases daily. If you value the information you have found on our website and would like to see us continue to build our expertise in the management, treatment and research into CGD, please consider making a donation to the charity, no matter how small. Here are just a few of the recent fundraising stories from members.

In memory of Lorraine Ridley

Michelle Winsor has been raising money for the CGD Society in memory of her sister, Lorraine, who tragically died at just 29 years old of heart disease. Lorraine left behind two sons, the youngest of whom, Corey, has CGD. Michelle and her family want to raise money to help other families affected by CGD in her sister's memory.

Alfie Luxton
Alfie, 14, underwent a bone marrow transplant in 2013, and raised almost £3,000 for the charity by shaving his hair off.
  Angela Stockwell and Denise Tyler
Angela Stockwell and Denise Tyler put on a couple of fundraising events, including a wonderful ball, and raised an incredible £7,000 for the CGD Society. Angela's son, Sam, underwent a successful bone marrow transplant for CGD in 2012.

David Kitt

David Kitt bravely took on a swimathon in aid of the CGD Society at Chichester Lions Club in summer 2013. David and his team, 'Kittman's Splashers', swam 85 lengths in 55 minutes to raise £200 for the charity.

Simon Frewin

Simon took on the incredible Mount Kilimanjaro in 2013, climbing the staggering mountain and raising £3,460 in the process.
  We are very grateful to everyone who has donated individually to the CGD Society since our last newsletter. We would like to say a special thanks to:

The friends of Michelle Winsor, Alfie Luxton, Simon Frewin, Jill and John King, and David Kitt

Debra Hunt and all at The Brown Jug pub

The Jeffrey Modell Foundation
  Johnathan He
The CGD Society would like to congratulate Johnathon He, aged 7, who won a prestigious Well Child Award. The Well Child Awards celebrate the inspiring qualities of the UK's seriously ill young people, and Johnathan won the award for the bravery he showed throughout a year-long hospital stay, during which time he fought off several serious infections and underwent a bone marrow transplant. Johnathan collected his award from Prince Harry.
  If you would like to share a story about someone in the CGD community who has inspired you, please do get in touch.

We hope you have found this newsletter informative. Thank you for reading!

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