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Contents
Research
UK Turner Study
Taking part in Trial By Karen
Insulin sensitivity in Adolescents and Young Women with Turner Syndrome
Taking part in research by Sarah
Recent Papers
Spatial Relationships
Letters to Editor
Trip Down Under
Sound Familiar
Editor's note – There has been some comment from members that by publishing research protocols and updates in ASPECTS means that the Society endorses that research. This is not necessarily correct - the aim is to inform members of current research in order to enable them to make an informed choice as to whether or not they wish to participate in research projects.
Update on the Prospective UK Collaborative Study into Growth Promoting Treatment for Turner's Syndrome
This multi-centre study was initiated by the British Society for Paediatric Endocrinology & Diabetes [BSPED] to examine the impact, if any, of oxandrolone and the timing of oestrogen induction on final height [FH] in Turner's syndrome [TS]. Girls with TS between the ages of 7 and 14 years are eligible, providing they have had no previous treatment with either oxandrolone or oestrogen. All girls in the study receive a standard dose of growth hormone [GH] – 30 IU [10mg]/m2/week in daily injections. They are then randomised at 9 years [or on enrolment, if older] to receive either oxandrolone tablets or placebo [dummy tablets, containing no active drug], until FH. In addition, they are further randomised to either begin oestrogen treatment at 12 years or to receive placebo tablets for 2 years and then begin oestrogen treatment at 14 years. Both treatments use a double-blind method; i.e. neither the girl nor her family nor her paediatrician knows to which group she has been allocated. Girls older than 12.25 years on entry to the study undergo the first randomisation to oxandrolone or placebo but automatically begin oestrogen treatment at 14 years, with no placebo.
Since the recruitment of the first subjects to this study in November 1999, interest from both families and clinicians has steadily increased. To date, 70 paediatricians and paediatric endocrinologists from 56 different UK hospitals have offered their support; the largest study of its kind ever undertaken in TS in the UK. Families of girls with TS have similarly welcomed the study and, at the time of writing, 44 girls have been recruited, with more currently considering the invitation to participate. The recruitment period is ongoing and investigators expect this figure to continue to rise in coming months. In any long-term study such as this, a small number of subjects are expected to decide they no longer wish to participate in the study and to "drop out". Indeed, girls retain this right throughout their involvement. However, investigators are pleased to report that, to date, no girls have chosen to withdraw and compliance to treatment appears to be high. Investigators are obviously keen to build on the current total of 44 girls already recruited. However, it should be stressed that participation is entirely voluntary and a decision not to take part or to drop out will in no way affect the care provided.
Enrolment in the study does not require any major change to the usual care given to girls with TS and consists of the following treatments & investigations:
daily growth hormone injection – offered to most girls with TS
oxandrolone/placebo tablets – girls with TS may currently be offered oxandrolone treatment, depending on their paediatrician
oestrogen/placebo tablets – almost all girls with TS require oestrogen treatment in adolescence and into adulthood
4-6 monthly clinic visits regarded as good practice for any
annual bone age X-ray patient on GH
annual blood test for thyroid function – recommended for all girls with TS
It should be noted that the dose of GH prescribed in the study [30IU[10mg]/m2/week] is considered "best practice" for TS at this time. The low dose of oxandrolone used in the study [approx. 0.05mg/kg/day] is not associated with any side effects and puberty is induced, at 12 or 14 years, gradually, with a very small starting dose of oestrogen – 2 micrograms daily. If prescribed outwith the context of the study, these are the doses likely to be used by UK paediatricians to treat girls with TS. The study is not concerned with investigating new and unknown treatments, but rather with the "fine tuning" of existing therapies. It is recognised, however, that in enrolling in the study, families & clinicians are asked to relinquish the control they have over treatment choices. The magnitude of this sacrifice is readily acknowledged. However, the past decade or so has been characterised by an unsystematic approach to treatment and the investigators feel strongly that it is only within the confines of a strictly controlled study such as this, that the best possible growth promoting treatment for TS can be identified.
When deciding whether or not to enrol their daughter in the study, families' primary concern is her safety and this is taken very seriously by the investigators. Families can be assured that none of the drugs used in the study are new. All have been used to treat TS for over a decade and are being used in this study, in doses that are considered safe. Girls enrolled in the study are monitored at regular clinic visits at which time, in addition to growth data, details of any adverse events [AE] are recorded. An AE is defined as any illness, accident or operation, however unrelated to the study medications these events may appear. All of these AEs are then reported to the independent Data & Safety Monitoring group, who have the responsibility of overseeing the overall conduct of the study. To date, these reports have related to minor infections, skin disorders, ENT treatments and limb fractures and, as expected, no significant AEs thought to relate to the active treatment have been reported.
As with any study examining growth, results will not be available for several years and this study is still very much in its infancy. However, with the help of girls with TS and their families, identifying the best possible growth promoting treatment for girls with TS is a step nearer. The total of 44 girls already enrolled is testament to the commitment of families and clinicians up and down the country but more are needed. If you and your daughter are interested in taking part in the study and would like further information, please contact your paediatrician/paediatric endocrinologist or Emma-Jane Gault, Research Assistant for the study, details below:-
Emma-Jane Gault
Department of Child Health
Royal Hospital for Sick Children
Yorkhill, Glasgow, G3 8SJ.
(0141 201 6952 Fax: 0141 201 0837
Email: EJ.Gault@clinmed.gla.ac.uk
One of the Society's younger members writes about her experience in taking part in the above trial.
When I was 11 years old I started to ask Dr Donaldson questions about my development and when I should start oestrogen. He told me he was sorry that he did not know when the best age to start the treatment was. Different doctors gave it at different times depending on what each patient wanted. He then went on to explain that in order to know when the best time to begin oestrogen and to get the best height for girls with TS, he was running a trial. It is called a double blind trial, that means taking a tablet everyday, but neither the doctor nor I would know if it were oxandrolone or a placebo [dummy tablet]. We would not know what I had taken until I was fifteen.
It was not easy to make a decision, I could continue as I would have without the trial or take part. No one put any pressure on me to take part, in fact what was difficult was that it was completely up to me. My Mum said that really I had to decide what was the best for me, as it was my body. Emma-Jane, Dr Donaldson's research assistant, was very helpful she spent a lot of time with me explaining everything. My Mum and I talked it all over lots of times. After a lot of consideration, talking and some tears I decided I would take part in the trial.
So 18 months ago I started taking a tablet as well as my growth hormone every night. I would wait until I was 14 to start the oestrogen. When I started taking the tablets I felt at least I was trying something else to help me grow and felt waiting until I was 14 for oestrogen might make me a little taller. Waiting for the development treatment would mean I was a little later in developing than my friends.
I am now 4ft 9¼inches and still growing. I feel great and I am glad that I did go on the trial. I am now taking my GH injection, oxandrolone/placebo & oestrogen every night. I know that the results of the trial will not really benefit me. But it will benefit younger TS girls, I hope they won't have to make the difficult decision of height verses development. If older TS girls had not taken part in trials for Growth Hormone I might not be as tall as I am. So I like to think I am helping the doctors to help other TS girls. Many of them are my friends.
Ed - Thank you Karen for sharing your experience of taking part in the trial, which as you say, will hopefully be of benefit to younger girls with TS.
Prof David Dunger & team, Cambridge
from Dr Rakesh Amin
There is still a need for more volunteers to take part in this study. We have now finished the investigations on 4 volunteers; a further 6 are booked to take part in the first two weeks of June. Obviously we would like more people with TS to come forward and take part but appreciate they may have some concerns. Anyone who would like to know more about the study and detailed information of what is involved should contact me Dr Rakesh Amin on 01223 763404 or e-mail ra249@cam.ac.uk. I look forward to hopefully attending the TSSS Conference in Blackpool and reporting on what the research has discovered so far.
A Society member writes about her experience of taking part in the above research.
December's ASPECTS mentioned about some research that was being done at the University of Oxford at the John Radcliffe Hospital. This research was being run by David D Dunger, who is Professor of Paediatrics, and his assistant Dr Rakesh Amin, Specialist Registrar. This research study looks at the way adolescents and women with TS utilise glucose. Insulin is required for your muscles to absorb glucose. One of the many features of TS is something called "insulin resistance". This means that more insulin is required than normal by your muscles to absorb glucose for use as energy. In the longer term this may led to diabetes.
This suggests that the X-chromosome is somehow involved in the way the body handles glucose. In addition this may depend on whether the X chromosome is inherited from your mother or father.
This research study sounded all rather interesting to me and I volunteered to participate. Since it was being held at the John Radcliffe Hospital in Oxford [which is my local hospital] I thought, "hey, what is a couple of hours of my time", [little did I realise!!!]
Once I received all the information, which was all very informative, and very simple. The appointment came through quite quickly. If the appointment hadn't suited I could have changed it. The researchers are very keen to work around you and your schedule
To my horror I discovered that it was to be done at Addenbrooke's Hospital in Cambridge [HELP] and not Oxford as I had thought. I was to be there for 9am [it is only a 3-hour drive from Oxford!!!] Now it was getting to be a major exercise sorting out the travel, time off work, kids and the dog. The only solution was staying somewhere the night before so that I could be "bright eyed and bushy tailed" for the next day. I spoke to Rakesh about the problems who suggested staying at the Sports Centre [yes, the Sports Centre] that is situated in Addenbrooke's hospital grounds. He was very helpful and organised everything for us and sent us directions etc. He organised paying for the family room and we even had the facility of using the Sports Centre [optional!!]
The day before, the day of travel to Cambridge, it began to snow and snow and snow. Stewart, my husband, said it would be OK and off we set. What a journey! However, the next day I was in the ward for 9am, a bit worried to say the least. Rakesh who was very nice met me and made me very comfortable. I was expecting a doctor with the white coat etc - not so - he and his team were all casually dressed, which makes you feel a bit more relaxed [well it did me]. He went through all the procedures from A to Z. By this time I had a slight headache, all due to not being allowed to have breakfast - which to me is lots of coffee which I was certainly missing. He placed a small plastic tube [a cannula] into a vein in each arm, in my case they placed it into each side of my wrist. I must admit it did hurt but it soon went away. They explained what they were doing at all times and were checking me every 5 minutes. And there was me thinking that I could fall asleep, you do not get the chance. He asked me for my parents' addresses. He has to get blood from both of your parents to complete this study. He also went through a complete medical history.
Lynne arrived just after 9am to keep me company and to talk to Rakesh about the research. I was all ready, plumbed in, and raring to go. At about 12pm everything was finished. They unplugged me, took my blood pressure and "ordered my lunch" - I thought, "this is rather nice". After I had my sandwich and 2 large mugs of coffee Stewart and the kids came to collect me. They had spent a nice morning watching TV in the bedroom and walking around the ground floor of the hospital which is like a shopping mall. We then took the kids to Burger King in the "Shopping Mall" - even Stewart and Lynne, not noted for their enjoyment of 'fast food', had a burger and chips and coke in a plastic cup!!
All in all we had a good day - I was concerned and a bit stressed out before I got there - which in the event was needless - as they were very nice and I even got to lie on the bed and get pampered - [did I mention the sheepskin heated pad?], which does not happen very often in our household! It was a long and tiring day and all I had to show for it was a bruise on the side of each wrist, which was a bit tender to touch, and cleared up after a few days. By the way, halfway through the morning I discovered that I was the No. 1 GUINEA PIG. In a strange way I was rather chuffed with myself. I hope that this will give an insight to this research study and maybe other women with TS will now volunteer to get involved.
[Ed – Thank you Sarah for this insight into a day in the life of a research volunteer. For my part [as an observer] I found the research team in Cambridge extremely kind, checking on Sarah all the time, she was never left alone and regularly monitored through out. They were more than willing to answer our questions and explain the research and procedures in layman's terms].
The British Medical Journal [BMJ] 28 April issue focused on genetics Arlene was asked to write an article "Value of genetic counselling: a parent's view"
Ref BMJ 2001;322:1071 [28 April]
BMJ 2001:322:463-466 [24 February]
"What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study" Lenore Abramsky et al
This was a disturbing paper and has made the TSSS Committee all the more determined to ensure that health professionals making a prenatal diagnosis of TS have accurate and up to date information on TS to give to parents.
JCE&M Vol. 86 No 5 p1936-1941 Reiter et al
"Early Initiation of Growth Hormone Treatment Allows Age-Appropriate Estrogen Use in Turner's Syndrome" will be reviewed in September ASPECTS.
Via the Australian TS Association newsletter the Society was introduced to the ARK Foundation and a superb article describing spatial awareness. The article gives one of the best descriptions of spatial awareness we have read and offers a better understanding of how girls and women with TS see things differently from others. If you would like a copy of the article please send a large stamped self addressed envelope and 4 x 1st class stamps to the TSSS office, marking your envelope 'spatial' in the bottom left hand corner. If you have Internet access the article can be downloaded from www.newhorizons.org/spneeds_arkspatial.html
Dear Editor
My name is Shirley I am 35 years old, married and living in the Westy Midlands. I was diagnosed as having a chromosome deficiency when I was just thirteen but only learned of the connection with Turner syndrome as recently as 5 years ago. Thanks to my brother-in-law getting the information from the Internet, I was able to join The Turners Syndrome Support Society and find the articles in the newsletter very helpful and informative. It helps knowing that I am not quite as alone with my problems as I first thought.
In the March issue of ASPECTS one particular article mentioned that some of the women with TS have like me, problems with their weight and suffer with back and neck pains, which in my case are at times quite severe and can lead to long spells of absence from work. I thought some of your readers might be interested to hear what I do in order to keep the situation under control?
I have for a number of years had regular manipulation treatment from my chiropractor. Recently I began a course of acupuncture treatment which I find very helpful in relieving any stress and also allows a reduction in the amount of pain killers needed to get me through those particularly stressful days, and of course I do not need as many manipulation visits. As a result of these treatments particularly the acupuncture I feel like a new person both physically and mentally and have a much brighter outlook on life generally.
[Ed -Anyone wishing to contact Shirley please do so via the TSSS office.]
We reported in March that only Australia had submitted a bid to host the 6th International Turner Syndrome Societies Conference in 2003 and the choice of city would be between Melbourne and Sydney. Well Sydney it is! No definite date has been published yet but it will be in September or October. Start now to trace the long lost relatives in Oz and to start your Australia Fund.
As always the Editor is delighted to be able continue this popular column. It is apparent that members are benefiting from sharing their experiences with others. It takes courage to share painful experiences but in doing so it can give hope to others. Lauren writes of her surprise and delight in discovering a source of information about her condition
Hello!
I am a twenty four-year-old with Turner syndrome. I have just found the TSSS website and was very pleased and pleasantly surprised. I was diagnosed when I was ten and given treatment until the age of sixteen at Great Ormond Street hospital. However, since that time when I was signed off from my consultant, I have had no information about my condition or any follow up treatment. I have read your information open mouthed as it describes many of the traits I have e.g. weight problems, hearing difficulties as a child etc. that have never been made clear to me. It has made it evident that I need to make sure I look at various aspects of my health and should have enquired long ago about my condition.
Until now I have buried my head in the sand and thought I was the only person with TS in the world and let myself be ignorant to my condition, which is why I was pleased to find the TSSS website. Now there is a way that I can find out more information and be kept up to date about findings and I am very pleased. The only information I had read was fourteen years ago when I was first diagnosed and medical dictionary descriptions [not very helpful!] I was amazed that there was a TS Support Society as my parents were never encouraged to look for support or information and were therefore uninformed themselves. Thanks for the wonderful website!
[Ed – we are pleased and delighted that Lauren has discovered the TSSS and hope that the information we have provided and will continue to provide her will help her in the future. Lauren's story is not the only one in this vein – all we can do is try and create more awareness of TS and the existence of the TSSS and the Internet is proving valuable in this way.]
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