Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia

NCT05317390 | Recruiting

• 1 other identifier: 2020P004129
• Study Type: interventional
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

This research involves retrospective and prospective studies for clinical validation of a DystoniaNet deep learning platform for the diagnosis of isolated dystonia.

Conditions

Dystonia; Drug Induced Dystonia; Parkinson Disease; Essential Tremor; Dyskinesias; Myoclonus; Tic Disorders; Torticollis; Ulnar Nerve Entrapment; Temporomandibular Joint Disorders; Dysphonia

Outcome Measures

Primary Outcomes (2)

• Correctness of clinical diagnosis of dystonia using the DystoniaNet algorithm

  Correctness of dystonia diagnosis (yes dystonia/no dystonia) will be established using the DystoniaNet machine-learning algorithm

  4 years

• Time of clinical diagnosis of dystonia using the DystoniaNet algorithm

  The length of time (in months) from symptom onset to clinical diagnosis will be established using the DystoniaNet machine-learning algorithm

  4 years

Study Arms (2)

Retrospective clinical validation of DystoniaNet

NO INTERVENTION

Retrospective studies will (1) clinically validate the diagnostic performance of DystoniaNet compared to a normal neurological state (normative test), and (2) develop and test DystoniaNet extensions in comparison with other neurological and non-neurological conditions (differential test).

Prospective clinical validation of DystoniaNet

EXPERIMENTAL

Prospective randomized studies will validate DystoniaNet performance for accurate, objective, and fast diagnosis of dystonia in the actual clinical setting.

Diagnostic Test: DystoniaNet-based diagnosis of isolated dystonia

Interventions

DystoniaNet-based diagnosis of isolated dystonia DIAGNOSTIC_TEST

DystoniaNet will be used for the diagnosis of dystonia and its differential diagnosis from other neurological and non-neurological disorders mimicking symptoms of dystonia

Prospective clinical validation of DystoniaNet

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Males and females of diverse racial and ethnic backgrounds, with age across the lifespan;
• Patients will have at least one of the forms of dystonia, including focal dystonia (e.g., laryngeal, cervical, oromandibular, blepharospasm, focal hand, musicians), segmental dystonia, or generalized dystonia;
• Patients will have other movement disorders (Parkinson's disease, essential tremor, dyskinesia, myoclonus) and other non-neurological conditions (tic disorders, torticollis, ulnar nerve entrapments, temporomandibular disorders, dysphonia) that mimic dystonic symptoms.

You may not qualify if:

• Patients who are incapable of giving informed consent;
• Patients who are unable to undergo brain MRI due to the presence of certain tattoos and ferromagnetic objects in their bodies (e.g., implanted stimulators, surgical clips, prosthesis, artificial heart valve) that cannot be removed or due to pregnancy or breastfeeding at the time of the study.

Sponsors & Collaborators

• Massachusetts Eye and Ear Infirmary: lead

Study Sites (1)

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, 02114, United States

RECRUITING

MeSH Terms

Conditions

Dystonia; Parkinson Disease; Essential Tremor; Dyskinesias; Myoclonus; Tic Disorders; Torticollis; Ulnar Nerve Compression Syndromes; Temporomandibular Joint Disorders; Dysphonia

Condition Hierarchy (Ancestors)

Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Neurodevelopmental Disorders; Mental Disorders; Ulnar Neuropathies; Mononeuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Nerve Compression Syndromes; Cumulative Trauma Disorders; Sprains and Strains; Wounds and Injuries; Craniomandibular Disorders; Mandibular Diseases; Jaw Diseases; Musculoskeletal Diseases; Joint Diseases; Muscular Diseases; Stomatognathic Diseases; Voice Disorders; Laryngeal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases

Study Officials

• Kristina Simonyan, MD, PhD

  Massachusetts Eye and Ear

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kristina Simonyan, MD, PhD

CONTACT

617-573-6016; simonyan_lab@meei.harvard.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: PARTICIPANT, CARE PROVIDER
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Otolaryngology - Head and Neck Surgery

Study Record Dates

• First Submitted: November 28, 2021
• First Posted: April 7, 2022
• Study Start: June 1, 2022
• Primary Completion (Estimated): April 30, 2028
• Study Completion (Estimated): April 30, 2028
• Last Updated: December 2, 2025

Record last verified: 2025-11

Locations

US (1)