LBSL Patient Listening Session

May 23, 2023 

The US Food and Drug Administration (FDA) offers multiple options for patient engagement, including the Patient Listening Session.  The goal of these small, closed-door meetings is “to help FDA understand patient/caregiver experiences related to a disease, condition, or a health-related issue.”  

Cure LBSL requested a Patient Listening Session to share the critical patient voice with regulators, reviewers, and others who will be involved in the evaluation and approval process for future treatments.  As the medical literature does not fully reflect the lived experience for many people with LBSL, a primary goal of the meeting was to provide information to the FDA that would otherwise not be available in the literature. 

As the meeting co-host, Cure LBSL was responsible for helping the international patient voice to be heard.  This collective voice includes deeply personal details of the unique lived experienced, disease burden, and treatment priorities of people living with LBSL and their families / caregivers.  The LBSL patient voice (representing over 200 individuals), was shared via: 

1. A video compilation entitled “What it is Like to Live with LBSL,” created from video clips submitted by international families 

2. A clinical summary of LBSL, based on data from scientific publications, as well as pre-publication natural history study data.   

3. A building illustration PowerPoint presentation, entitled “What it Feels Like to Live with LBSL,” created from international patient and caregiver interviews. 

4. Patient stories, with descriptive photographs and videos, shared by representative speakers from the international LBSL community. 

During this meeting, nine patients shared what it’s really like to live with LBSL (using their own voices and/or by having caregivers speak for them).  The speakers were carefully chosen to be representative of the various experiences within the LBSL community, including age of onset, life impact, vulnerability to triggers, prognosis and life expectancy, and interest/eligibility to try experimental treatments.   We additionally tried to include patients who had a different disease course than was originally predicted at diagnosis and/or from the literature. 

While not all patients experience LBSL the same way, there are some common manifestations.  Major themes highlighted in this Patient Listening Session include: 

• Mobility and gait impairment

• Ataxia and imbalance, with tripping and falling risk

• Fine motor difficulties

• Fatigue and exhaustion 

• Nerve and muscle dysfunction (pain, spasms, weakness, cold extremities) 

• Seizures, nystagmus, and visual impairment 

• Environmental triggers (heat and cold intolerance) 

• Triggers (head injuries, fever, overheating, dehydration, puberty, travel, anesthesia, etc.) 

• Crises & regressions 

• Sleep disturbances 

• Nutritional & GI concerns (including need for tube feeding) 

• Difficulty with activities of daily life and independence  

• Mental health concerns (grief, guilt, fear, anxiety, depression, isolation) 

• Social concerns (isolation / being left out / unable to keep up with peers) 

• Burden of many medical and therapy appointments 

• Lack of approved treatments / concerns about experimental supplements 

The meeting was well-attended by representatives from the FDA, including from the Office of the Commissioner, Center for Biologics Evaluation and Research (CBER), Center for Devices and Radiological Health (CDRH), and Center for Drug Evaluation and Research (CDER).  We were also pleased and honored to have several representatives from NIH NCATS in attendance.   

The LBSL community aptly calls itself “small but mighty.”  Despite being only 90-minutes long, the powerful and impactful LBSL Patient Listening Session could also be called small but mighty.  In a very short period of time, the LBSL community was able to share insights into the lived experience of over 200 patients worldwide.  Although the meeting preparation was physically and emotionally exhausting, many meeting participants left the Patient Listening Session feeling “encouraged,” “excited,” and “hopeful.”     

The cohesive, collaborative, research-ready LBSL community feels empowered and excited for clinical trials and future FDA patient engagement opportunities!   

To review of copy of the report or other meeting materials, please email info@curelbsl.org.