UCL KD Research Newsletter

Below is the first newsletter from the UCL Kennedy's Disease Research Center. Many thanks to all who provide support as well as search for a treatment and a cure.

FYI - Kennedy’s Disease Clinic

This clinic is linked to the National Register for Kennedy’s Disease and is aimed at providing a central referring point for all patients in the UK. Kennedy’s disease (also known as Spinal Bulbar Muscular Atrophy) is a rare disorder and the Clinic will offer the multi-disciplinary approach available for MND and also provide screening for a number of non-neurological conditions that may associate with Kennedy’s Disease.

Coordinator for this clinic is Jan Clarke (jan.clarke1@nhs.net - Telephone: 020 3448 3517); general enquiries Marcia Forde (marcia.forde@nhs.net - Telephone: 020 3448 8251 - Fax: 020 3448 3633).

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UCL KD Research Newsletter

Hi and welcome to the inaugural research newsletter from the !

We always enjoy letting you know about exciting developments in KD research and care, and a few members of the KD community have asked to know more about the research happening at UCL, Oxford and further afield – so here we are!

We’re planning to update you with research news four times a year. We would really love to hear your feedback on what you like and what doesn’t work so well, so that we can improve what we are sending you. We really want it to be the most useful and interesting for you that it can be. Please do let us know at sbma@ucl.ac.uk.

KD Clinic

It has been wonderful to see so many faces coming through the KD clinic.

From the medical side we have a new consultant, Dr Carlo Rinaldi, who has many years’ experience in KD. Carlo runs a research group at Oxford University studying ways to develop new treatments for KD. Dr Helen Devine, a registrar, has returned from maternity leave and is joining the clinic alongside her PhD using stem cells to study KD.

KD research

There is plenty of ongoing research linked to the clinic, both in UCL and in Oxford. In some cases people with KD have been directly involved, for example: undergoing muscle MRI scans, or donating blood or skin samples that are currently being analysed in the lab. There are also numerous ongoing studies that use disease models to better understand KD and to find ways of changing its course.

We will include updates of these projects in upcoming newsletters.

Results from Japan using testosterone-lowering drug

Many of you have asked us about the results from a clinical trial recently published by colleagues in Japan.

Background: Our bodies naturally produce testosterone. In people with KD, this testosterone binds to faulty androgen receptors – and that causes damage to the nerves and muscles. Gen Sobue’s KD lab in Japan wanted to see if less testosterone would mean less activity of the androgen receptor – and therefore less damage. There is already a drug called Leuroprelin that makes men produce less testosterone. A team lead by the scientist Atsushi Hashizume ran a long-term trial giving Leuroprelin to some people with KD in order to reduce the levels of testosterone in their bodies, to see if they stayed healthier than others who were not given the drug. The scientists chose people who were similar in terms of age, length of disease and CAG repeat length. The first results were published in 2009 and actually showed that there was no clear benefit to people with KD after 18m of treatment.

Results from this study: Treatment was continued with Leuroprelin after the original study end and now the effect of the drug after up to 11.5 years in the longest-term patients has been published. Encouragingly, the researchers found that, over the observed time period, the people who were given Leuroprelin were less likely to develop pneumonia requiring hospitalisation, and they had a slower progression of disease.

Our view: The positive finding of this study is that reducing the action of testosterone can impact on the disease course of KD. On the cautionary side, however, the benefits are modest, and the drug, when taken chronically, has some side-effects.

In summary, although Leuprorelin may not prove to be clearly beneficial for people with KD, these results show that modifying testosterone can have an impact on disease, which brings optimism for future drug therapies.

Symptom management

We thought it would be useful to hear how you deal with KD’s most common and troublesome symptoms to create a resource for all of us to share, review and access.

So our first question is: what are the best strategies you have found to manage laryngospasm?  If you wish to contribute please e-mail Luca at: luca.zampedri@nhs.net

Best wishes,
Pietro, Carlo, Mike, Linda, Helen, Jan and Luca.

A not so friendly reminder

Blogging was the last thing on my mind this past week. My wife’s father unexpectedly passed away on Thursday.

With his loss I am once again forced to consider “the fragile nature of life.”

• You just never know what will happen next
• And, you can never count on anything.

It also reminds me to:

• Live for today
• Stop harboring resentment
• Choose my attitude rather than let it control me
• Release any anger that I am holding on to
• Count my blessing every day
• Stop clinging to unrealistic expectations
• Accept who I am with my current capabilities

And, most importantly, I need to always “be there” for my loved ones.


Some might consider this article a little negative, but it is not meant to be. In fact, it is uplifting for me. The loss of a family member and friend is a wakeup call to live more in the moment.

When is cold not always cold?

One of the undiagnosed systems associated with Kennedy’s Disease is sensory neuropathy. For years it was never listed or even associated with diagnosing Spinal Bulbar Muscular Atrophy (SBMA) or Kennedy’s Disease. I have commented in earlier articles about my neuropathy systems. This week, another person living with Kennedy’s Disease asked what my symptoms were like, so I thought this would be a good opportunity to discuss the subject again.

The website Medical News Today had some good information on this subject.

What is Neuropathy?

Neuropathy is a collection of disorders that occurs when nerves of the peripheral nervous system (the part of the nervous system outside of the brain and spinal cord) are damaged. The condition is generally referred to as peripheral neuropathy, and it is most commonly due to damage to nerve axons. Neuropathy usually causes pain and numbness in the hands and feet. It can result from traumatic injuries, infections, metabolic disorders, and exposure to toxins. One of the most common causes of neuropathy is diabetes.


Neuropathy can affect nerves that control muscle movement (motor nerves) and those that detect sensations such as coldness or pain (sensory nerves). In some cases - autonomic neuropathy - it can affect internal organs, such as the heart, blood vessels, bladder, or intestines.


Pain from peripheral neuropathy is often described as a tingling or burning sensation. There is no specific length of time that the pain exists, but symptoms often improve with time - especially if the neuropathy has an underlying condition that can be cured. In the United States, about 20 million people suffer from neuropathy.

What are the Symptoms for Sensory Nerve Damage Neuropathy?

Sensory nerve damage can cause various symptoms, such as an impaired sense of position, tingling, numbness, pinching and pain. Pain from this neuropathy is often described as burning, freezing, or electric-like, and many report a sensation of wearing an invisible "glove" or "stocking". These sensations tend to be worse at night, and can become painful and severe. Sensory nerve damage may lead to a lessening or absence of sensation, where nothing at all is felt.

How can Neuropathy be managed?

There are several ways to manage neuropathy and prevent its symptoms. Good foot health is important, especially for diabetics. Patients should check feet for blisters, cuts, or calluses and avoid tight fitting shoes and socks. Doctors can recommend an exercise plan that will reduce neuropathy pain and control blood sugar levels. Patients should also quit smoking and eat healthful meals. Massages of hands and feet may also aid neuropathy management by stimulating nerves and temporarily relieving pain.

My Sensory Issues

My neuropathy is caused by sensory nerve damage and that is why I focused on it above. The three main areas/symptoms for me are:

1. Feet and lower legs always feel cool or cold ... even if they are warm when touched. I normally cannot go to sleep when they feel cold.
2. A burning sensation in the heels ... mainly in the left leg. Often the burning sensation is so intense I cannot got back to sleep.
3. Hands and fingers not as sensitive to hot and cold. This becomes  an issue with freezing weather or when picking up hot items.

What works for me?

1. Cold Sensation: If I wear calf length socks in bed, the feeling goes away quicker. An electric blanket also seems to help. Normally about an hour or two later I can remove the socks and be fine.
2. Heel pain: Massaging the area seems to help immediately. Placing a pillow under the shin area to hold the heel off of the bed seems to help also.
3. Hands and fingers: Massage, gloves, pot-holders, and awareness of the problem seems to help. I especially have to be careful when picking up something hot because I can blister before the pain hits.

Do you have any neuropathy issues?

Please let me know if you have any issues with neuropathy. What kind, where and what you do to help the issue?