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Project Aim:

1 - To change the current diagnostic criteria to include cognitive, psychiatric, behavioral, and vegetative decline for diagnosis via the UHDRS.

    • UHDRS Q80 should be changed: Q80 diagnostic criteria (Motor, Cognitive, Behavioral, and Functional components) do you believe with a confidence level ≥99% that this participant has manifest HD? (0 = No, 1 = Yes)

    • Confidence level ≥99% should be changed to ≥50%

2 - If a patient has an expanded CAG (mutation above normal range) and expresses cognitive, psychiatric, behavioral, or vegetative decline, the patient should receive a diagnosis of Huntington's disease.  A diagnosis for patients with these symptoms of Huntington's disease will facilitate the necessary supports and services they need. 

Current Diagnostic Criteria for Huntington's Disease:

  • Does not meet the needs of our patients and families.

  • Excludes a large group of our patients who do not express overt motor symptoms (chorea).

  • Does not effectively support our patients who have manifested: psychiatric, cognitive, behavioral, and vegetative symptoms of Huntington’s disease.

How did Project CHANGE begin?

Patients / Family Feedback:

The endeavor and goal to change the diagnostic criteria for Huntington’s disease are driven by patients and families worldwide. WeHaveAFace.org, and its Senior Medical Advisor, Dr. Herwig Lange (George Huntington Institute of Germany), asked the international Huntington’s disease community to participate in an anonymous survey on October 13, 2020. The survey was shared via social media platforms (Facebook, Twitter, LinkedIn, Instagram, etc.), WeHaveAFace Global Times (electronic newspaper), WeHaveAFace TV, and WeHaveAFace global email database. 

The Survey Question: “Should the diagnostic criteria for Huntington's disease be reviewed and updated?”

*In the survey, "other symptoms" pertain to depression, anxiety, behavioral issues, mood swings, physical abuse, social issues, alcohol/drug issues, suicidal thoughts/actions, apathy, sexual promiscuity, inability to hold employment/problems at work, etc.* 

 

  • Data reported from the following survey questions:

- “Do you believe that Chorea should NOT be the only factor to receive a diagnosis of Huntington's when other 

   symptoms of Huntington's disease are present and affecting the individual?” 

- “Chorea is not my/our main concern with HD.” 

- “Me/my loved one experience memory, behavior, cognitive, and social issues.” 

- “In the USA, without a diagnosis and medical coverage, I cannot afford to see a doctor.”

- “I/we believe that a person should receive the diagnosis without Chorea if they are suffering from other

   symptoms.” 

- “I/we believe that if a person should have the right to know if they are positive or negative for HD.”

- “I/my loved one have thought of or attempted suicide.” 

- “Do you believe that the current diagnostic criteria for Huntington's disease should be reviewed and updated?”

 

Results:

  • Over 5,000 of our patients/caregivers participated, and saturation was reached via early review of data on November 15, 2020; however, the survey remained open until January 7, 2021, for additional data collection. 

  • Overall: 95% of our patients and families surveyed agreed that the diagnostic criteria for Huntington’s disease should be reviewed and updated.

  • Participating countries: USA, Canada, Mexico, England, Scotland, Ireland, Germany, Finland, Australia 

  • See survey results and read comments from our patients and families.

Hands Together
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Project CHANGE continued to build...

A group of world-renown HD medical professionals, researches, and HD organization leaders, came together for an open discussion on the need to change the current diagnostic criteria.  This topic was discussed during several Zoom calls, and ideas were shared.  

It is not uncommon, nor is it surprising for some to disagree on the best way forward when discussing a topic such as the diagnostic criteria for Huntington's disease.  Nonetheless, an amazing group of professionals continued to listen to the voices of our HD community.

Steps to receive additional input from our HD patients and families continued.

Support Group
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Dr. Hugh Rickards, Professor of Neuropsychiatry (National Centre for Mental Health, Birmingham, England), brought up a fundamental question for our patients and families.  With Dr. Rickards’ question in mind, the international group continued to move this mission forward and published an anonymous poll on March 1, 2021.  The poll was shared via social media platforms (Facebook, Twitter, Instagram, and email). ​

Dr. Rickards’s question was:   “Why is a diagnosis of Huntington's disease important to you?"

  • On March 7, 2021, over 4,000 individuals within the international Huntington’s community voiced their opinion and participated.  The poll closed on March 15, 2021.

 

  • Participating countries: USA, Canada, Mexico, England, Scotland, Ireland, France, Germany, Netherlands, Italy, Australia, and Spain. 

Chart expressing Huntington’s disease community polling results:

Poll Chart

Data from the three lowest polled responses:

  • My parent did not/will not get tested, but I want to know.

  • To participate in studies and trials.

  • To plan to have biological children.

Holding Hands

Project CHANGE listened to patients and families!

For over two years,  Project CHANGE did not sway from the needs of our patients and families. Pushback was expected, however, the community realized that this was not "rocket science" and finally momentum was now global.  Project CHANGE became inundated with thousands of comments and questions from patients and families who struggled (and continue to struggle) with obtaining a diagnosis when it is needed.

Project CHANGE now included support from mainstream HD charities who agreed that the patient perspective was/is the answer - patients and families are the living experts, regardless of the disease-oriented group.   

All Hands In
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Diagnosis

 

Project CHANGE partnering HD organizations and medical professionals wish to underscore that a diagnosis of Huntington's disease is not for everyone. This is not our aim. We fully understand and recognize the implications of a diagnosis. 

Based on our global polls and petition feedback, Dr. Herwig Lange (George Huntington Institute, Germany) created a proposal of recommendations for new clinical diagnostic criteria for Huntington's disease. This proposal will benefit patients with a diagnosis of Huntington's disease when it is needed.  We are pleased that a project of this magnitude was driven by the perspectives of our global Huntington's disease community.  Decision-making on any diagnostic criteria must include the population being served. 

Recommendations for New Clinical Diagnostic Criteria of Huntington’s Disease 

 

This proposal was written by Dr. Herwig Lange (George Huntington Institute, Germany), and supported by: Dr. Thomas Bird (Founder of University of Washington HDSA Center of Excellence), Dr. Travis Cruickshank (Edith Cowan University, Perth Australia), Dr. Matthias Dose (founder of Huntington-Zentrum Süd, Munich, Germany). Dr. Clare Eddy (Birmingham and Solihull Mental Health NHS Foundation Trust, England), Dr. Jane Paulsen (University of Wisconsin-Madison), Dr. Hugh Rickards (University of Birmingham, England), Dr. Adolf Weindl (Technische Universität München, Munich, Germany),

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Project CHANGE!

Petition Results

Once the new proposal was completed, we brought the new clinical diagnostic criteria recommendations to our global population.  Via a petition, we asked patients, caregivers, family, friends, and our HD medical professionals to sign the petition if they agreed with the updated recommendations.  We were not surprised by the results!  Please review them below. 

Using Mobile Phones

Project CHANGE international partners saw the feedback and participation from the international Huntington's community. As a result, patients and families seek the following considerations for diagnostic criteria to be changed:

Vegetative Function: Bodily processes most directly concerned with the maintenance of life. 

 

Appetite (normal/elevated) -> obesity / reduced -> weight loss -> emaciation, especially with dysphagia
Bladder and bowel problems
Hyposexuality / Hypersexuality

Sleep issues / Insomnia / Increased Sleep /Fatigue

Sweat sleeps

Temperature changes of the body – sweating/freezing

Pain and itching

Psychiatric / Cognitive/ Behavioral Symptoms:

 

Social cognition and emotional responses

Depression with a high rate of suicide

Anxiety / Social anxiety and/or withdrawal

OCB – Obsessive-Compulsive Behaviors / Perseverative Behaviors

Schizophrenia-like behavior / Paranoia / Hallucinations / Delusions 

Mania / Bipolar-like disorder

Irritability / Aggression

Denial (Individuals do not believe they have HD – denying the existence of HD)

Anosognosia (Individual unaware of having or showing symptoms of HD)

Issues with multitasking / Mental speed / Problem solving

Issues with memory 

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Project CHANGE International Support Network

Without the support and participation from the Huntington's community, nothing can change. Therefore, it is paramount that patients and families take the lead in bringing about the changes we need.  We are also pleased that many HD organizations and medical professionals are supporting this initiative.  Together we can better the lives of our Huntington's patients and families.

Dr. Herwig Lange (George Huntington Institute), Dr. Ralf Reilmann (George Huntington Institute), James Valvano (WeHaveAFace), Louise Vetter (HDSA), Debra Lovecky (HDSA), Dr. Jane Paulsen (University of Wisconsin, Madison), Dr. Hugh Rickards (National Centre for Mental Health, Birmingham), Dr. Travis Cruickshank (Edith Cowan University), Mayke Oosterloo (Maastricht University Medical Center, NL), Dr. Thomas Bird (HDSA CoE, University of Washington),  Dr. Roger Barker (University of Cambridge, UK), Dr. Raymund A. C. Roos (Leiden University Medical Centre, NL),  Debbi Fox-Davis (HDReach.org), Donaji Toledo, (AMEH - La Asociación Mexicana de la Enfermedad de Huntington), Tatiana Henrique, (ABH – Associação Brasil Huntington),  Cath Stanley,  (HDA - Huntington's Disease Association), Frances Saldana, (HDCare.org), Dr. Clare Eddy, (Birmingham and Solihull Mental Health NHS Foundation Trust).

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