After clinical trial results were announced for deutetrabenazine (Austedo), I hoped we might be getting a drug that didn't cause the side effects of other chorea treatments (antipsychotics or the old tetrabenazine). And now that I have prescribed it, it has proved better than I had expected based on the clinical trial results.  Though not successful in everyone, it has clearly decreased chorea in most. But what I was not expecting is how much this drug improves the functional activities that chorea impacted.

For sure Austedo is not the cure, nor does it treat the cognitive or behavioral complications of HD , nor does it work for everybody, nor does it take all the chorea away -- but it is the best drug we have -- and for the first time in the history of our disease we can make people better by improving motor function.

Bowel and bladder problems cause much distress for individuals with Huntington's disease (HD) and their families.  How common are these complaints? How "real" are these complaints? Are these just obsessive behaviors?  Are they imagined and just "in the head"? Or what?

Although there surely are others, four non-drug "things" that this author believes can make a huge difference for those with HD or at risk of it is the focus of this article.  The "things" include:

  • Exercise for body and brain
  • Knowledge of and early recognition and management of symptoms
  • Healthy Sleep
  • Attention to carer needs

 

Although a study testing bupropion (Wellbutrin) for treating apathy has recently been completed, there has been no high level study of any drug for treatment of any behavioral or neuropsychiatric symptom in Huntington's disease (HD).  Nor is there study on adverse side effects of the drugs commonly used in HD.  However experts believe, and families know that available drugs can be helpful. Unfortunately there is little available guidance for doctors or families on when and how to use these drugs, or what side effects to look for.

Lack of guidance leads to opposing problems: Some with HD have too little drug therapy, while others likely have too much . . .

The Huntington's Disease Society of America (HDSA) has recently released their "Genetic Testing Protocol for Huntington's disease" intended to update previous guides.  Work on this document followed an HDSA review of Centers of Excellence that showed a variation among centers regarding procedures and relative number of premanifest individuals tested at each site. There are several differences from the previous guide to the updated protocol, some of which are intended to make the genetic testing process more flexible and assessible.  However, some of the wording, including the choice of "protocol" instead of "guide" or "guideline" and "must" or "should not" as in the testing for juvenile disease suggests a more dogmatic approach.

Two points to make from the beginning: Guideline development is (very) hard and there will always be differences of opinion.. 

Psychosis is a severe but relatively rare behavioral/neuropsychiatric symptom in Huntington's disease (HD).  Psychosis in HD is defined by the presence of delusions or hallucinations.  Delusions are fixed beliefs not grounded in reality.  Hallucinations are the sensory experience of seeing, hearing, or feeling something not based in realtiy.

Psychological distress and psychiatric symptoms are terms that we can use to describe a range of situations that occur in Huntington's disease (HD) that are emotionally troubling and have negative impact on how we function as individuals and families. And we certainly have more than our share of psychological distress living and and coping with this disease.

All in our community, families and professionals alike tend to describe various symptoms, like depression, anxiety, irritability and others as if they are rigidly separate disease symptoms. Though there can be value in separating symptoms, this author believes this separation may also create barriers to understanding and optimally treating the individual with HD experiencing them.

There have been a number of studies about the impact and burden of Huntington's disease (HD) on both those affected and their family carers. Though there are many other factors, the major recurring theme boils down to "lack of care". This includes lack of access to HD subspecialty medical care, lack of community medical or service provider knowledge about HD, and lack of support for family or other carers. It is unfortunate that the magnitude of burden imposed by "lack of care" for HD has not substantially changed over the two decades or so covered in these studies.

The Huntington Study Group (HSG) hosted more than 400 attendees from around the world that included expert clinicians, researchers, and coordinators of clinical studies at their annual meeting in late October. Rounding out this group were representatives from several drug companies, and most importantly individuals and families affected by HD. The highlights listed are just a few of the many presentations but are those that this author thought most important.

In a recent publication in the Journal for Huntington's Disease, Tedroff and collaborators report that antidopaminergic (antipsychotic and tetrabenazine) drugs were associated with more rapid progression of Huntington's disease. Any study showing a factor associated with more rapid progression is important. However the question remains whether these medications "caused" the more rapid progression, or whether those on these medications had a more severe type of HD that would have progressed more rapidly with or without the medications.

What is the take home message from this study for individuals with HD who are taking these drugs?