This page is dedicated to the Congenital Sensorineural Hearing Loss research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Congenital Sensorineural Hearing Loss research study, established at Boston Children’s in 2019, is led by Drs. Margaret Kenna and Eliot Shearer and has enrolled more than 650 patients and their families. The study aims to identify genetic causes of undiagnosed congenital sensorineural hearing loss and provide personalized medicine.

Disease information

Congenital sensorineural hearing loss (SNHL) affects the inner ear and reduces a person’s ability to detect sound. Hearing loss can affect one or both ears and ranges from mild to profound. Even mild hearing loss can interfere with a child’s speech and language skills.

It is estimated that 50-60% of individuals with congenital hearing loss have an underlying genetic cause for their condition. Learn more about SNHL.

Key outcomes

Some key outcomes include definitive diagnoses for 31 percent of patients and changes to treatment plans for some patients. Non-hearing-loss-related incidental genetic findings for 5.5 percent of patients led to additional changes in treatment.

Genes identified in study patients

ACTB ADGRV1 ALMS1 CABP2 CDH23 CHD7 COL11A1 COL11A2 COL2A1 DIAPH1 DMXL2 DSPP EYA1 FGFR3 GJB2 KITLG KMT2C LOXHD1 MITF MYH14 MYO15A MYO3A MYO6 MYO7A NPC1 OTOG OTOGL PAX3 PTPN11 SLC26A4 STRC TBC1D24 TCOF1 TECTA TMPRSS3 TRIOBP TYR USH2A WNT10A GATA2 TMC1 PKHD1L1

Participate in research

Physicians may refer their patients with diagnoses of congenital sensorineural hearing loss to Dr. Kenna or Dr. Shearer. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their studies, including the Congenital Sensorineural Hearing Loss study, on the Translational Hearing Genomics Lab.

Patient care

Patients and their families with congenital sensorineural hearing loss can be seen by an expert multidisciplinary team in the  Deaf and Hard of Hearing Program at Boston Children’s. Learn more about childhood hearing loss.

Patient stories

Our team evaluated a 7-year-old patient for a new diagnosis of sensorineural hearing loss. She had a complex medical history which included complex venous malformation, structural heart defect, organomegaly, and dysmorphic facial features in addition to hearing loss. She was evaluated in Genetics as an infant and had some limited genetic testing based on available testing at that time. Dr. Kenna’s team performed analysis if research exome sequencing identified a genetic diagnosis of Niemann Pick disease type C (NPC1 gene), a lipid storage disorder associated with progressive neurodegeneration. The identification of this genetic diagnosis for the patient resulted in her eligibility for a clinical trial of a new medication aimed at slowing the progression. The patient appears to be doing very well since joining this clinical trial.

Investigators

Divisions

Notable publications by investigators

Exome Sequencing Expands the Genetic Diagnostic Spectrum for Pediatric Hearing Loss.

Disease support organizations

American Speech-Language-Hearing Association

The American Speech-Language-Hearing Association (ASHA) is the national professional, scientific, and credentialing association of audiologists, speech-language pathologists, scientists, assistants, and other affiliated professionals, dedicated to transforming lives.

American Society for Deaf Children

The American Society for Deaf Children (ASDC) is committed to empowering all families with deaf and hard-of-hearing children and youth by embracing full language and communication access in inclusive environments through mentoring, advocacy, resources, and collaborative networks.

Beginnings

Beginnings for Parents of Children who are Deaf or Hard of Hearing is a non-profit that serves families across North Carolina whose children from birth to age 22 are deaf or hard of hearing, to understand hearing loss as well as the diverse needs of children who are deaf or hard of hearing. This support helps families make informed decisions and empowers them to advocate for their child’s needs.

Hands & Voices

Hands & Voices is a parent-driven organization that supports families with children who are Deaf or Hard of Hearing without a bias around communication modes or methodology.

Hearing Loss Association of America

Hearing Loss Association of America (HLAA) is the nation’s leading organization whose mission is to open the world of communication to people with hearing loss by providing information, education, support, and advocacy.

International

National Deaf Children’s Society (NDCS)

Trusted sites