Editor’s note: The Muscular Dystrophy News Today team is providing in-depth coverage of the 2021 MDA Virtual Clinical and Scientific Conference, March 15–18. Go here to read the latest stories from the conference.
A long diagnostic process and a wide range of symptoms and functional problems affecting quality of life were reported by people with limb-girdle muscular dystrophy type 2i (LGMD2i) and their families in an interview study.
Researchers recommend more education for physicians, rehabilitation therapists and mental health professionals, as well as access to support services and help from patient advisory groups.
The study results were presented as a poster titled, “Patient and Family Experience of Limb-Girdle Muscular Dystrophy Type 2I,” at the 2021 MDA Virtual Clinical & Scientific Conference, which concludes today.
LGMD2i is caused by mutations in the FKRP gene, leading to weakness and wasting of the muscles around the shoulders and hips. The disorder often develops in late childhood and may include difficulty walking and running.
As a progressive condition, people with LGMD2i may come to rely on a wheelchair for mobility about 25 years after onset. Some cases are characterized by progressive weakness of the lung and heart muscles. No disease-modifying therapy has been approved for people with LGMD2i.
Recently, a group of LGMD2i patients and their family members were invited to describe the diagnostic process, symptoms, and the disease impact on quality of life by scientists at Bridge Bio Pharma, and its subsidiary ML Bio Solutions. They are currently evaluating BBP-418, a potential disease-modifying therapy for LGMD2i in a Phase 2 clinical trial.
The meeting, which took place in Charlotte, North Carolina, consisted of seven people with LGMD2i and seven family members without financial or family ties to ML Bio Solutions and not currently enrolled in a study sponsored by the company.
A guide was developed for a semi-structured discussion, and participants were asked to list the symptoms that affected their physical health and quality of life, and choose which had the most impact. Analysis of the transcripts identified key themes important to participants.
The discussion revealed the diagnostic process was often long and challenging due to uncertainty, misdiagnoses, and delays in finding specialized treatment and care.
“The doctors always said, oh well, you know, she’s just clumsy,” said a participant. “I felt like they were telling me that I was out of shape and needed to try harder,” added another.
Collectively, the patients reported 36 different symptoms or difficulties functioning, which impacted quality of life.
“You have to be the doctor, you have to sort it out, you have to ask around, you have to seek out answers,” a participant said.
Symptoms most troubling included difficulty getting up from a chair, the ground, or the toilet, as well as fatigue, muscle weakness, walking and mobility problems, inability to climb stairs or a curb more than six inches in height, and mental health challenges such as depression, anxiety, and fear.
Patients were stressed by fears about the future, the need for a ventilator, developing heart problems, losing mobility, not being able to fulfill their family role, and being isolated or alone. Additional worries included the fear of falling, worsening mood, something happening to their caregiver, incontinence, and losing independence.
Family members listed many of the same troublsome symptoms and experienced anxiety about falls, the loss of mobility, and depression in their loved ones.
After diagnosis, many participants reported they received little to no instruction from their clinicians about self-management such as exercises, assistive devices, management of fatigue, home or vehicle modifications, how to prevent falls, and wheelchair prescriptions. Most sought information from patient advocacy organizations, patients and family meetings, and peers on social media.
“Generally, the progression is so slow you keep adapting, keep adapting, keep adapting, and then there’s a breaking point,” a participant said. “Okay. Now I have to use a cane. Okay. Now I have to use a walker. Okay. Now I have to use a scooter. You are re-grieving over and over to adapt to a new stage, as are your caregivers and partners. You are both getting used to one thing, and then it’s something else.”
Based on these findings, the scientists recommended more education for primary care physicians and specialists, as well as rehabilitation therapists and mental health professionals who care for LGMD2i patients.
In addition, people with LGMD2i need access to support services, including informal sources such as patient advocacy organizations and support groups to help them cope daily. Finally, patient advisory groups are necessary to help guide the development of new therapies, which will help researchers and clinicians focus on patient needs.
“Additional studies of the experience of patients can help health care providers gain a greater understanding of the disease and inform the research community in ways to best design studies with meaningful endpoints [goals],” the team wrote.
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