The ALD Connect website offers a great video that explains ALD
As part of our ongoing focus on multi-stakeholder collaboration in the rare disease space, we are highlighting successful and unique examples of this programming to improve patient outcomes. ALD Connect is a Patient-Powered Research Network (PPRN) consortium composed of ALD patients, patient advocates, and researchers supported in part by the Patient-Centered Outcomes Research Institute (PCORI). The mission of the organization is to improve health outcomes for patients with X-linked adrenoleukodystrophy (ALD) by empowering patients, raising awareness, and accelerating the translation of scientific advances into better clinical care.
ALD Connect’s Impressive Track Record
ALD Connect is a model of what can be accomplished when patient advocacy groups, academic researchers and physicians, and biopharmaceutical companies work together to accomplish their goals. Ben Lenail, a founder of the organization, was diagnosed in his 40s with adrenomyeloneuropathy (AMN), a late-onset phenotype of ALD. Frustrated by the lack of knowledge and options he was confronted with, Ben leveraged his own 25 years of technology and start-up experience to create ALD Connect to accelerate diagnosis and treatment of the disease and ultimately eradicate the debilitating single-gene disorder.
The latest innovative offering from ALD Connect is a series of doctor-patient webinars designed to give physicians, researchers, patients, patient advocates, and industry attendees live education on various topics related to ALD. The biggest benefit this webinar series offers is the opportunity to raise awareness of the disorder and its diagnosis, and to enable attendees to have their questions answered by ALD experts. For the advocacy group, it is also a chance to understand what information people are seeking and to highlight its resource offerings.
Key Facts on ALD
The first webinar broadcast on October 13th—presented by Dr. Keith Van Haren, a board member of ALD Connect—was designed as an introduction to the series. It will be posted on the website in the future. But here are some of the highlights:
• ALD is an abbreviation for x-linked adrenoleukodystrophy. It’s a genetic disorder that impacts the brain, nerves, and adrenal glands of women and men—regardless of race or ethnicity.
• Symptoms differ from patient to patient and a challenging aspect of the disease is that it’s difficult to predict which symptoms will occur – and when they will manifest.
• If caught early, disease progression can be halted but not reversed.
• Most males with the ALD gene will develop adrenal insufficiency, with signs that can be life threatening including fatigue, nausea, low blood sugar, low blood pressure, coma, and seizures.
• Adult men with AMN may have walking and balance problems in their 20s or 30s. Pain, numbness, or tingling in the legs and urinary problems can develop somewhat later.
• As with many x-linked disorders, women with ALD have fewer symptoms and later onset—more than 80% at 40s or later.
• Current medical therapies include Lorenzo’s oil for asymptomatic boys 3-10 years and, for cerebral ALD, prompt evaluation for bone marrow transplant (BMT).
Symptomatic treatments are available for AMN and corticosteroids are used for adrenal insufficiency, but the effort to find new treatments and ensure early diagnosis is ongoing. In the meantime, diagnosed patients can stay healthy by letting their physicians know that ALD guidelines were published in Orphanet Journal of Rare Diseases. It’s also helpful to maintain a healthy diet, moderate exercise, healthy relationships and regular visits with their neurologist, physical therapist, and other specialists.
The ALD Connect website offers a great video that explains ALD ( view here), as well as other valuable resources, and the organization is in the process of building a referral network. If you’d like to be notified of future webinars, contact firstname.lastname@example.org. To learn more about ALD Connect’s collaboration efforts, download our white paper on the topic and let us know if you have a collaboration story that should be shared.