The first LHON-Plus Patient Advocacy Group (PAG) created in the United States
Taking
ACTION NOW brings a
BRIGHTER FUTURE!
LHON-Plus Patients: Matt Hoffmeier (RIP), with his sister, Andrea Hoffmeier, facing upward into sunshine, on Cayamo Cruise balcony.
Support our work though our sponsor, 501(c)03 SHERPA Institute
Action matters NOW for every patient with Rare Mitochondrial Disease.
ABOUT
LHON-Plus Action is a patient advocacy group (PAG), focused primarily on this largely overlooked rare and incurable maternally inherited mitochondrial disease. Our PAG’s Founder has been collaborating for many years with researchers dedicated to LHON-Plus. Both our Founder and her brother, Matt (RIP) were screened for participation in the Basket Clinical Trial at The Chiaramello Lab. This collaboration has developed into a symbiotic ecosystem between these uniquely dedicated researchers and patients. Read more about our clinical and PAG goals, with the primary goal to designing novel small molecule-based therapeutic avenues, for improving quality of life by curtailing the debilitating and progressive neurological complications exhibited by most patients.
Created and Spearheaded by Patients for Patients
We ACT NOW in Honor of ALL
Rare Mito-Patients Who Have Gone Before Us
LHON-Plus Patients: Matt Hoffmeier (RIP), with guide dog and his sister, LHON-Plus Action founder, Andrea Hoffmeier
Despite the challenges, Andrea WAS able to complete her thesis!
To learn more about Andrea’s academic background, credentials, global professional accomplishments, and why she pivoted to found LHON-Plus Action, connect with her on LinkedIn.
OUR FOUNDER
Pictured here, LHON-Plus Action Founder, Andrea Hoffmeier pauses for a quiet Commencement Day moment by the Harvard Memorial Church WWI Memorial Bell, cast in 1926. This historic artifact, rang for over 80 years, honoring those in the Harvard community who sacrificed their lives in the 1st World War. Now displayed, after having been broken in a fall from the tower, the bell is inscribed: “IN MEMORY OF THE VOICES THAT ARE HUSHED”.
Likewise, this patient advocacy group (PAG), LHON-Plus Action, is dedicated to all Mito-Patients who endured broken bodies, and lost their battle with mitochondrial disease battle.
LHON-Plus
Why"DASH"-Plus Matters
There is more than meets the eye, with LHON-Plus. Vision impairment is just ONE of the potential symptoms exhibited by LHON-Plus patients. The prefix of the disease’s name, LHON, stands for “Leber’s Hereditary optic neuropathy”. The “Plus” suffix represents the presence of EXTRA-OCULAR SYMPTOMS. The schematic* pictured here illustrates the diverse and complex mitochondrial phenotype, which differs from patient to patient.
If LHON-Plus were an iceberg, vision would be a fraction of the frozen surface! LHON and LHON-Plus ARE NOT THE SAME! LHON-Plus is not The Big Door Prize. It is multi-symptom.
*“Mitochondrial diseases: the contribution of organelle stress responses to pathology” Suomalainen A and Battersby BJ, Nature Reviews Mol Cell Biol, 2018, Vol 19, 77-92
BOLT ON NAMING PROBLEM
Notice that vision loss is just ONE of numerous clinical features of the larger schematic? Despite this, there is a focus on vision impairment (the disease name prefix) in the rare disease community. Patients and caregivers can lose hope in finding a specialist (typically in a distant location), to collaborate with hometown medical professionals, forming a complex, yet effective ecosystem of care.
Bolt-on naming problems, include:
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CONNECTING SPECIALIST WITH HOMETOWN CARE
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LHON FAMILY LHON HISTORY DELAYING CARE
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IMPACTS OF DELAYED TEAM FORMATION AND DIAGNOSIS
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STICKS & STONES – NAMES CAN HURT YOU!
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WHEN KNOWLEDGE IS NOT POWER - FUELS INERTIA
Substantial discussion in the LHON Community about one being a “carrier” fuels confusion; the reality anyone with a pathogenic variant is wise to focus on any available nutritional and lifestyle habits that might manage emergence of symptoms, which are often dismissed merely as aging or other cause.
Clinical diagnosis can be difficult, and patients are prone to give up, due to frustration. Extra-ocular symptoms can include myopathy, tremors, peripheral neuropathy, MS-like challenges, dystonia (being stuck in a “frozen posture”), migraines, cognitive deficit, anxiety, urinary dysfunction, gastrointestinal dysmotility and cardiomyopathy.
With no cure, LHON-Plus Patients too often neglect pursuing palliative therapies, typically a combination of nutraceuticals. However, these treatments typically fail to halt the progression of the symptoms, resulting in significant disability. This is why the previously discussed TEAM is critical, and physical therapy is also important to improve strength, stamina and mobility.
Dr. Anne Chiaramello (pictured) received FDA authorization to conduct the first basket clinical trial in the U.S., for the two rare mitochondrial diseases we’ve discussed, which are transmitted from mother to child and share a molecular etiology. It is the combination of two diseases that result in the name “basket clinical trial”. The clinical trial is largely funded by a prestigious grant from the National Center for Advancing Translational Sciences (NIH). There are funding gaps, however, due to the extraordinary costs of clinical trial drug manufacturing.
We are working to close these gaps AND to provide patient/caregiver travel assistance to DC, as this is not covered by the grant funds.
Our Action
We help researchers recruit potential research subjects for screening, and translate highly technical, scientific language into layman’s terms. Once enrolled, we aim to support patients with travel expenses, including airfare and lodging, by partnering with airlines and hotel companies as well engaging with local “host families. The latter provide assistance with logistics, and ground transportation, when navigating cities (often unfamiliar) for clinical trial visits. Interested in contributing to these efforts?
FDA Basket Trial Authorization
CONTACT
Support Our Work
through the 501(c)(3) SHERPA Institute
THANK YOU to all of our donators!
Your help has progressed important scientific work and helped to save lives!