Spotlight on…Rett Syndrome


Hannah Blake interviews Rachael Bloom

Rett Syndrome Research Trust UK

This ‘Spotlight on...’ articles looks into the symptoms of the debilitating postnatal neurological disorder, Rett Syndrome, which at the moment has no treatments for patients. We speak with Rachael Bloom to find out her thoughts on how pharma can better support patients and their families.

Our theme on pharmaphorum this month is on rare diseases and we’ve had a great response so far from rare disease patients, organisations and pharma companies who are involved in the development of orphan drugs. The biggest recurring theme is the need for more awareness about rare diseases and the importance for pharma to develop orphan drugs.

This month’s ‘Spotlight on...’ article takes a look at the symptoms and risks of the debilitating postnatal neurological disorder, Rett Syndrome, which affects approximately 1 in 12,000 females in the UK.1

At the moment, there are no treatments for patients with Rett Syndrome, and although the symptoms can be difficult to manage, most girls with Rett Syndrome survive into adulthood with full-time care.2


"...there have been current advances within Rett Syndrome research which brings hope for patients and families of this rare disorder..."


However, according to the Rett Syndrome Research Trust, there have been current advances within Rett Syndrome research which bring hope for patients and families of this rare disorder: “For families living with Rett Syndrome, the prognosis has always been poor, until the reversal experiments of 2007 catapulted the disorder into new realms of possibility, positioning Rett Syndrome to become the world's first curable brain disorder.”

Read our interview summary below with Rachael Bloom, from the Rett Syndrome Research Trust UK, to find out her thoughts on how pharma can continue to build on these positive advancements and what this will mean for patients of this rare disease and their families in the future.

Interview summary

HB: Hello Rachael, thanks for speaking with me. So what is Rett Syndrome?

RB: Rett Syndrome is a debilitating postnatal neurological disorder, which results in a range of severe dysfunctions and disabilities. The syndrome occurs primarily in girls and women, symptoms usually present between six and 18 months of age, until then, the child’s development appears to be normal. Usually the progression of the condition follows a set pattern with developmental stagnation, and/or loss of previously acquired skills. Once fully developed, the syndrome is marked with severe multiple disabilities including loss of the motor and communication skills, epileptic and non-epileptic seizures, dyspraxia, the inability to control one’s movements, and the loss of control and co-ordination of autonomic function.

HB: Who specifically then is at risk of developing the syndrome?

RB: Rett Syndrome is most often caused by a spontaneous mutation of the gene MECP2 on the long arm of the X chromosome, so it’s usually little girls that are affected. But anyone is at risk of having a child with the condition. For parents who already have a child with Rett Syndrome generally the fact that it’s a spontaneous mutation means that the risk of having another child with the condition is extremely small, at less than 1%.


"Despite the current grim prognosis for girls with Rett Syndrome, in the labs spectacular progress has been made in a relatively short space of time."


HB: What are the symptoms to look out for?

RB: At first the symptoms are almost imperceptible. The child’s general development seems to slow down, they might lose skills that they developed, fine motor skills such as feeding themselves or holding or carrying a favourite toy, they seem to stop playing. They lose words they’ve learnt, it can be difficult to engage with them, and they can become very agitated, often panic stricken and difficult to calm. And some children’s head growth, which is normal at birth, can gradually start to slow down at this time.

HB: What treatments are currently available?

RB: There’s currently no treatment for Rett Syndrome, nor are there any preventative measures which can cure Rett Syndrome or stop it from progressing further.

Instead, the focus is on symptom management, so in young children, therapies are vital to try to stave off the loss of function, and to try and enable the best quality of life possible. These therapies should be carried out in a co-ordinated manner by a multidisciplinary team in collaboration with the specialist within paediatric neurology or neurology to ensure that the needs of the girl are met across the board medically, educationally, and socially and emotionally. But despite their enormous physical challenges girls and women with Rett Syndrome can learn, their minds and ability to listen and engage are often all they have left after the condition has taken its toll, so they need a high level of support to make the most of their remaining skills and help them develop those skills further. In terms of managing medical complications symptoms, such as epilepsy, these are often managed with a combination of medications. Gastrointestinal feeding problems are common and they’re often managed with G or NG tube feeding. Orthopaedic problems need to be monitored and managed from an early age, through positioning and regular standing and bracing, and engaging with an orthopaedic surgeon where that’s necessary.

HB: How do you think pharma can better support patients with Rett Syndrome?

RB: Despite the current grim prognosis for girls with Rett Syndrome, in the labs spectacular progress has been made in a relatively short space of time.

Rett Syndrome is a single gene disorder, in 1999, the gene MECP2 was identified as the gene responsible for the condition. In 2002, the first genetic animal model was developed, and most spectacularly in 2007, in the lab of Professor Adrian Bird at the University of Edinburgh, the condition was demonstrated to be reversible in animals of even late stage disease.


"As potential treatments and therapies for Rett begin to come to light it will be vital for us to identify UK-based clinicians and researchers..."


Obviously, for all of us who love someone with Rett Syndrome, the overwhelming question now is whether there is a way to reverse the symptoms in people, and more importantly can this happen quickly enough to improve the lives of our own children living with Rett Syndrome today. There are two primary approaches to developing treatments for Rett Syndrome. The first is to understand the function of the MECP2 protein, and to design rational drugs to compensate for that deficit. And the second is to identify the various outcomes of having a deficiency in MECP2 and screen for anything that contravenes that outcome. So at Rett Syndrome Research Trust UK, we’re supporting several projects pursuing both those approaches. As potential treatments and therapies for Rett begin to come to light it will be vital for us to identify UK-based clinicians and researchers with a specific interest in Rett Syndrome. We need to also carry on spreading the word about the condition and the potential for treatment in order to continue to generate the funds we need to accelerate the research into treatment, which looks so increasingly promising for this devastating condition.

HB: What does the future look like in this area?

RB: Recent data from a variety of labs suggests that there might be ways to improve Rett symptoms pharmacologically at least in mice, so we’re hoping that the next few years will bring clinical trials and pilot studies of existing medication and procedures, to explore whether applied individually or even in combination, they can relieve symptoms.

Ultimately, achieving the cure that we all want for our children is likely to require addressing the underlying genetic problems, repairing the MECP2 mutation via some kind of gene therapy, or protein replacement, activating the silent healthy MECP2 on the inactive X, or finding a way maybe through modifier genes to bypass MECP2 altogether. Whichever way treatment comes, our goal is that that one day when someone’s child is diagnosed with Rett Syndrome the doctors will say, “Don’t worry, we have some treatments for that.”

HB: Thank you Rachael very much for speaking to us today.


1. NHS Choices page on Rett Syndrome:

2. About Rett Syndrome, according to the Rett Syndrome Research Trust UK:


About the interviewee:

Rett Syndrome Research Trust UK is the only UK charity exclusively focused on the development of treatments and cures for Rett Syndrome and related MECP2 Disorders.

Rachael Bloom is Executive Director of the charity and the mother of a 17 year old daughter with the disease. Rachael co-founded the charity in July 2010, which has since committed over £1 million to research projects focused on treatments and cures for Rett Syndrome


Phone: 0161 955 4261



Twitter: @reverseRett

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25 February, 2013