Report on the ENMC Conference

I wish to thank the Kennedy's Disease Association (KDA) for sharing this report from the recent European Neuro Muscular Centre Conference (ENMC). 

I feel this is a major step forward in finding a treatment for SBMA.  

Towards a European Unifying Lab for Kennedy's Disease

Twenty-four scientists working in academia, hospitals and industry from 8 different countries (Denmark, France, Germany, Israel, Italy, Spain, United Kingdom, USA) along with three patients’ representatives, (one who was also a representative of the USA patient group, The Kennedy’s Disease Association), met in the Netherlands on the weekend of the 15th- 17th of February 2019. They discussed the recent developments in research and shared the most recent clinical observations in spinal and bulbar muscular atrophy (SBMA). The workshop was conducted under the leadership of Maria Pennuto, Gianni Sorarù, Linda Greensmith and Pierre-Francois Pradat.

Background and Aims of the Workshop

SBMA, also known as Kennedy’s disease, is a rare, adult onset, neuromuscular disease caused by a mutation in the gene encoding for the protein which binds the male hormone androgen. This protein is called the Androgen Receptor (AR). The mutation is carried on the X chromosome and because the effects of the mutation are dependent on the presence of the male hormone androgen, the disease only affects males. However, females can be carriers of the mutation and if they do show symptoms, these tend to be mild.

The Androgen Receptor has an essential role in mediating the effects of the male hormone, androgen, and, when mutated, leads to muscle fatigue, weakness and atrophy of the arm and leg muscles, along with problems in speech, chewing and swallowing. Twitching or cramping of muscles can also occur.

Significant improvements have been made over the last few years in both our understanding of pathological mechanisms underlying the disease as well as in a greater recognition of the varied clinical manifestations of SBMA and in the development of clinical evaluation tools which together are essential to undertake effective therapeutic trials.

The aim of this workshop was to bring together leading clinical and basic scientists working in the field of SBMA to discuss the current understanding of basic disease mechanisms and to share and update the most recent developments in clinical evaluation of patients, with the objective of increasing the prospects of developing and testing new treatments that could effectively slow down disease progression in SBMA patients. ...

... Next Steps

In order to increase scientific and clinical collaborations between groups working in different countries, it was agreed that the First International Conference on SBMA will be organized, to be held in the spring 2020. The researchers and clinicians have underlined the need to collaborate with patients’ associations in the organization of the meeting with the aim of reinforcing the communication of scientific and clinical progress to SBMA patients and families, and providing the community with the possibility to directly collaborate in the research process.

Click here to read the entire report

Oh boy, let’s eat some Soy!

Ed Meyertholen, Ph.D., our new KDA President KDA wrote the following report on a recent study. These are Ed’s comments on the research report including the potential viability of the treatment for those of us living with Kennedy's Disease.

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Genistein, a natural product derived from soybeans, ameliorates polyglutamine-mediated motor neuron disease.
 
Research Report from Sobue’s group in Japan

Essentially, genistein is a substance found in soy and may be able to reduce the symptoms of Kennedy's Disease (KD).  This is due to the property of genistein to disrupt the association of the androgen receptor with another protein known as ARA70.  This allows the cell to remove the AR more efficiently and this, it is argued, may help relieve symptoms of KD (aka SBMA or Spinal Bulbar Muscular Atrophy).

The group did two major sets of experiments, one in cell models and one in a mouse model of KD. 

The results suggest that genistein reduces the symptoms of KD. 

Now, before we all rush out to buy soy products, understand that:

• Mice were treated with genistein at 6 weeks, two weeks BEFORE symptoms were found to be expressed in untreated KD mice.  They did NOT test genistein in mice that already were showing symptoms.
• The genestein did not eliminate the symptoms, it did seem to slow down the progression.  Also, it is not known if it would slow down progression after the onset of symptoms – as stated previously, this experiment was not done.  It is very unlikely that it would reverse symptoms that have already occurred.
• The dose of genestein in the study used was 250 mg/kg/day of mouse.  This would mean a typical 70 kg (155 lb.) man would have to ingest 250*70 = 17500 mg of genistein/day.  From what I could find, soy powder has the highest concentration of genestein of all soy products; it has a concentration of 1 mg/g of soy powder.  Thus, to take in the same amount of genestein as the mice in this experiment, one would have to eat 17500 g of soy power per day – this is about 38 pounds!  You cannot eat enough soy powder daily to get the small change in symptoms seen in the mice.  If one buys the ‘purified’ (it is really just enriched) genistein, it comes in 1g tablets – one would have to take more than 17 every day – and the safe recommended dose is 2 tablets/day.   Genistein has side effects – talk to your doctor!
• Just because genistein shows positive effects in mice does not mean it will have that effect in humans.

Conclusion: More work needs to be done before getting excited and wasting money on genistein.

What is Pseudoscience?

Ed, our resident biology professor and research reporter, is trying to educate everyone about bogus claims of treatments and cures for Kennedy’s Disease. Recently, many of these type claims have shown up across the internet as pseudoscience.

Pseudoscience …

… as defined by the WiseGeek website, is:

“ … a body of knowledge which presents itself with a veneer of scientific respectability which does not hold up under scrutiny. The term “pseudoscience” is meant to be derogatory; you may also hear terms like “alternative science” or “junk science” used to refer to such fields. Learning to distinguish true science from pseudoscience is very important.


The key characteristic of pseudoscience is that it does not conform with the scientific method. This means that pseudoscientific claims cannot be tested, and do not follow a logical order. Plenty of scientific concepts cannot be tested with existing equipment, but the originators of such theories can provide solid information which supports their hypotheses, and these creators also welcome critiques and honest analysis. Pseudoscience has no scientific backing, and it cannot be tested.


Several key things can be used to identify a field of knowledge or a claim as pesudoscience. The first is the lack of testability and independent confirmation. True scientists are always happy to share the data they used to arrive at their conclusions, and they welcome independent testing and critiques of their work, using refutation as the primary tool to prove a theory, rather than seeking out proofs. The pseudoscience community rejects refutation, preferring to seek out evidence which bolsters specific claims, and it is not open to scrutiny or discussion.


It is also common to see pseudoscience accompanied with grandiose languages and claims which are heavily exaggerated. Misleading language is often used in a pseudoscientific argument, and the author may make an argument which is based in ignorance, or in an assumption that the reader will be ignorant.”

The article concludes with the following warning:


“Many professional scientists regard pseudoscience as very harmful, in addition to irritating. Consumers spend large amounts of money on pseudoscience every year, believing the grandiose claims made by companies attempting to turn a profit, and pseudoscience can infiltrate society to an alarming level. At one time, for example, people genuinely believed in the practice of phrenology, which involves examining the bumps on someone's head to determine his or her inner nature.”

Do your research and ask your doctor

Regularly the KDA is sent emails exclaiming some treatment or cure for Kennedy’s Disease. Many of these emails today are for stem cell treatments or some drug like Naltrexone.

The message is simple. Always check with your doctor before embarking upon some treatment passed by word-of-mouth, emails or the internet. Always error on the side of caution.