The Voice of the Patient: Living with Polyglutamine Spinocerebellar Ataxias and Dentatorubral-Pallidoluysian Atrophy – Ataxia

The Voice of the Patient: Living with Polyglutamine Spinocerebellar Ataxias and Dentatorubral-Pallidoluysian Atrophy

The Voice of the Patient: Living with Polyglutamine Spinocerebellar Ataxias and Dentatorubral-Pallidoluysian Atrophy

On September 25, 2020 the National Ataxia Foundation (NAF) and CureDRPLA organised the Externally-Led Patient Focus Drug Development (EL-PFDD) meeting. You can watch the recording here. The EL-PFDD meeting provided a unique opportunity for the United States’ Food and Drug Administration (FDA) to hear directly from patients, their families, caregivers, and patient advocacy organisations. This meeting focused on polyglutamine spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, 8, 17) and Dentatorubral-pallidoluysian atrophy (DRPLA). NAF and CureDRPLA have prepared the Voice of the Patient Report to summarise the feedback gathered at this meeting. This report was submitted to the FDA and it will be used as a reference in future applications for therapy approvals when evaluating effectiveness of treatments. You can read the full report here. 

Over 450 people attended this meeting and the main themes that emerged are: 

  1. Polyglutamine SCAs and DRPLA are characterised by progressive deterioration and an intensification of symptoms over time.  
  2. Polyglutamine SCAs and DRPLA symptoms impact the lives of individuals affected as well as their families and caregivers. 
  3. Polyglutamine SCAs and DRPLA have an unmet treatment need.  

The health related problems that impact the most SCA and DRPLA affected individuals are lack of balance, impaired mobility, and speech or swallowing difficulties. The daily activities that these individuals have most trouble with are walking, participating in sports or physical activities, and socialising.  

When asked about what worries them the most about these conditions the most common answers were losing independence, losing the ability to communicate, and having to move to an assisted nursing facility.  

Polyglutamine SCAs and DRPLA do not have a curative treatment. Therefore, patients and their families reported that to manage the symptoms they use herbal and dietary supplements, prescription medications for muscular issues, and over the counter medications. Exercise and physical therapy also help manage the symptoms.  

Individuals affected with polyglutamine SCAs and DRPLA and their families/caregivers would like future treatments to slow or stop disease progression, improve coordination and balance, and improve speech.  

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