Adrenoleukodystrophy (ALD)
https://pmc.ncbi.nlm.nih.gov/articles/PMC12781523
Adrenoleukodystrophy (ALD) is a rare, inherited condition caused by changes in the ABCD1 gene that leads to a build-up of very long chain fatty acids that damage the brain, spinal cord, and adrenal glands. Although ALD is often discussed in children, many adults, including both men and women, live for decades with progressive and disabling symptoms. This study shares the lived experiences of adults with ALD and their caregivers through an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting organised by the US charity ALD Connect. The virtual meeting brought together 254 participants who were recruited via ALD Connect’s newsletter, including adults with ALD, caregivers, clinicians, researchers, and representatives from the U.S. Food and Drug Administration (FDA). Patients described a wide range of symptoms, most commonly balance problems, changes in gait, spasticity, weakness, pain, bladder and bowel issues, fatigue, and depression. These symptoms often made everyday activities, such as walking, working, sleeping, socialising, and maintaining relationships, very difficult or impossible. Many participants expressed fear about the future, particularly symptom worsening, loss of mobility, and the risk of developing cerebral ALD, a severe and life-threatening form of the disease. Currently, there are no approved treatments for adult manifestations of ALD besides hematopoietic stem cell transplantation (HSCT) which has strict criteria. Most patients rely on medications, physical therapy, mobility aids, and other supportive approaches, which usually provide relief. Despite these challenges, patients and caregivers voiced hope. They want treatments that slow or stop disease progression, preserve walking and balance, prevent cerebral ALD, and improve quality of life. Importantly, both men and women with ALD are participating in clinical trials and are shaping future therapies together.