P50DC019900

Next-generation clinical phenotyping and pathophysiology of laryngeal dystonia and voice tremor - Project Summary / Abstract

Laryngeal dystonia (LD) and voice tremor (VT) are hyperkinetic neurological disorders that significantly impair voice and speech production and negatively impact the patient’s quality of life, extending beyond speech motor alterations and often causing occupational disability and life-long social isolation.

The standards of clinical care of LD and VT are not established; that is, the differential diagnostic criteria remain vague, leading to a high rate of misdiagnosis, whereas treatment is largely limited to temporary symptom management with botulinum toxin injections into the affected laryngeal muscles.

One of the major causes of suboptimal clinical care of these patients is the limited understanding of their distinct clinical characteristics and neural pathophysiology.

We propose a multi-institutional, cross-disciplinary center research program that will focus on the delineation of unique clinical and pathophysiological features of LD and VT in order to establish the fundamental framework for the enhanced clinical management of these disorders, including their accurate diagnosis and disorder-specific therapies.

The center research goals will be accomplished through collaborative clinical research studies at Massachusetts Eye and Ear Infirmary, Massachusetts General Hospital, University of California San Francisco, and University of Utah, which will include three center projects, a scientific core that incorporates the clinical research and data science components, and an administrative core that provides an overall organizational infrastructure to the center activities.

The overall specific aims of this center will be (1) characterization of clinical phenotypes of LD and VT; (2) understanding disorder-specific neural pathophysiology in LD and VT; (3) deep brain stimulation in LD and VT, and (4) machine-learning platforms for differential diagnosis of LD and VT.

We expect that our cross-disciplinary and collaborative center, encompassing the expertise in otolaryngology, speech-language pathology, neurology, neurosurgery, brain and larynx imaging, invasive neurophysiology, and clinical neuroscience and applying complementary multimodal methodologies across these fields, will have a significant positive impact on developing new knowledge about the links between symptomatology and pathophysiology of LD and VT, which will help define the new standards of enhanced clinical care of these disorders.

Massachusetts Eye And Ear Infirmary

TO INVESTIGATE SOLUTIONS TO PROBLEMS DIRECTLY RELEVANT TO INDIVIDUALS WITH DEAFNESS OR DISORDERS OF HUMAN COMMUNICATION IN THE AREAS OF HEARING, BALANCE, SMELL, TASTE, VOICE, SPEECH, AND LANGUAGE. THE NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS (NIDCD) SUPPORTS RESEARCH AND RESEARCH TRAINING, INCLUDING INVESTIGATION INTO THE ETIOLOGY, PATHOLOGY, DETECTION, TREATMENT, AND PREVENTION OF DISORDERS OF HEARING AND OTHER COMMUNICATION PROCESSES, PRIMARILY THROUGH THE SUPPORT OF BASIC AND APPLIED RESEARCH IN ANATOMY, AUDIOLOGY, BIOCHEMISTRY, BIOENGINEERING, EPIDEMIOLOGY, GENETICS, IMMUNOLOGY, MICROBIOLOGY, MOLECULAR BIOLOGY, THE NEUROSCIENCES, OTOLARYNGOLOGY, PSYCHOLOGY, PHARMACOLOGY, PHYSIOLOGY, PSYCHOPHYSICS, SPEECH-LANGUAGE PATHOLOGY, AND OTHER SCIENTIFIC DISCIPLINES. THE NIDCD SUPPORTS: (1) RESEARCH INTO THE EVALUATION OF TECHNIQUES AND DEVICES USED IN DIAGNOSIS, TREATMENT, REHABILITATION, AND PREVENTION OF DISORDERS OF HEARING AND OTHER COMMUNICATION PROCESSES, (2) RESEARCH INTO PREVENTION AND EARLY DETECTION AND DIAGNOSIS OF HEARING LOSS AND SPEECH, VOICE, AND LANGUAGE DISORDERS AND RESEARCH INTO PREVENTING THE EFFECTS OF SUCH DISORDERS BY MEANS OF APPROPRIATE REFERRAL AND REHABILITATION, (3) RESEARCH INTO THE DETECTION, TREATMENT, AND PREVENTION OF DISORDERS OF HEARING AND OTHER COMMUNICATION PROCESSES IN THE ELDERLY POPULATION AND ITS REHABILITATION TO ENSURE CONTINUED EFFECTIVE COMMUNICATION SKILLS, AND (4) RESEARCH TO EXPAND KNOWLEDGE OF THE EFFECTS OF ENVIRONMENTAL AGENTS THAT INFLUENCE HEARING OR OTHER COMMUNICATION PROCESSES. SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM: TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO ENCOURAGE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM: TO STIMULATE AND FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.

93.173 - Research Related to Deafness and Communication Disorders

National Institute on Deafness and Other Communication Disorders (NIDCD) [HHS - NIH]

Boston, Massachusetts 021143002 United States

Single Zip Code

NIDCD Clinical Research Center Grant (P50 Clinical Trial Optional) (PAR-19-137)

Amendment Since initial award the End Date has been extended from 08/31/26 to 08/31/27 and the total obligations have increased 313% from $2,478,460 to $10,238,629.