Separation of the organ of Corti from the basilar membrane.
SEPTEMBER 2022 UPDATE: One fascinating presentation at the 2022 International Workshop on Alport Syndrome (Sept. 7th) featured new findings about the cause of hearing loss in our disease. Dr. Felipe Santos shared his discoveries from an innovative research project funded by Alport Syndrome Foundation in 2021.
The findings indicate that structural changes in a specific part of the inner ear, called the organ of Corti, corresponded to patients who experienced moderate to severe hearing loss. This observation, along with other physical changes within the cochlea, were present in temporal ear bones of Alport syndrome patients examined in this study. What was found in the temporal ear bones of human patients was not mirrored in mice with Alport syndrome.
This critical study has created a new path for additional studies that can help us better understand and treat hearing loss in Alport syndrome.
2021 FUNDING AWARD
Dr. Felipe Santos, MD
April 22, 2021: Inspired by two Alport patients who reached out to us in 2020, ASF is making a new and historic investment of $26,000 to better understand the cause of Alport syndrome-related hearing loss. This is an important first step in understanding if and/or how Alport hearing loss may potentially be treated or cured.
The project is being led by Dr. Felipe Santos, a physician, surgeon, and Interim Chief of Otology and Neurotology at Massachusetts Eye and Ear. Dr. Santos is also an Assistant Professor of Otolaryngology – Head and Neck Surgery, at Harvard Medical School.
The human inner ear is inaccessible in life. Therefore, the study of donated ear specimens is critical to the understanding of hearing loss. Near the end of his life just over a year ago, Alport patient Timothy Fiscus sought to support hearing loss research in some way. This led ASF to establish communication with the National Temporal Bone Registry at Massachusetts Eye and Ear. Although circumstances beyond his control did not allow Mr. Fiscus to donate his own ear, his interest kindled ASF’s relationship with experts at the National Temporal Bone Registry.
Months later, when Jake Boyles, also an Alport patient, expressed a similar desire to support Alport research at the end of his life, Jake’s family contacted us. Jake’s remarkable October 2020 post-mortem gift of his temporal bone became the start of an ASF-funded research project. On behalf of the community of Alport patients and families, we extend our deepest gratitude to Timothy Fiscus, Jake Boyles, and their respective families for their incredible selflessness and generosity. We appreciate their efforts to reach out and coordinate with ASF.
To learn more about the National Temporal Bone Registry and how to make advance plans for anatomical gifts, contact: [email protected] or visit the Massachusetts Eye and Ear website.
Learn More About This Research Project
May 25, 2021 HLAA Patient-Focused Drug Development Virtual Meeting:
Watch a recording of the Hearing Loss Association of America’s Patient-Focused Drug Development meeting on sensorineural hearing loss on the HLAA website. Numerous individuals affected by Alport syndrome voiced their experiences via live phone calls and virtual polling.
Subscription-Based Articles:
Vestibular and audiological findings in the Alport syndrome
Barozzi, Stefania et al.
The American Journal of Medical Genetics, August 20, 2020.
Open Access Articles:
Multidisciplinary Management of Alport Syndrome: Current Perspectives
Kashtan, Clifford E.
Journal of Multidisciplinary Healthcare, May 21, 2021.
Under the Scope. “WashU Lab Finds Clues to Restoring Hearing Loss in Rare Alport Syndrome.” Washington University School of Medicine Department of Otolaryngology, 27 Apr. 2021, oto.wustl.edu/washu-lab-finds-clues-to-restoring-hearing-loss-in-rare-alport-syndrome.
Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome
Boeckhaus, Jan et al.
Life, December 18, 2020.
DNA-seq analysis of gene expression profiles in isolated stria vascularis from wild-type and Alport mice reveals key pathways underling Alport strial pathogenesis
Dufek, Brianna et al.
PLoS One, August 21, 2020.
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Zhang, Xiao et al.
Orphanet Journal of Rare Diseases, December 22, 2018.
Temporal Bone Histopathology of X-linked Inherited Alport Syndrome
Ungar, Omer et al.
Laryngoscope Investigative Otolaryngology, August 9, 2018.
Endothelin-1 Mediated Induction of Extracellular Matrix Genes in Strial Marginal Cells Underlies Strial Pathology in Alport Mice
Meehan, Daniel et al.
Hearing Research, August 21, 2016.
Hearing Loss and Alport syndrome
Consolación Rosado
ENT & Audiology News, May 1, 2015.
Matrix metalloproteinase dysregulation in the stria vascularis of mice with Alport syndrome: implications for capillary basement membrane pathology
Gratton, Michael Anne et al.
The American Journal of Pathology, May 2005.
PDFs of Alport syndrome Hearing Loss Research:
