ADCY5, Chorea, Dystonia, EIF2AK2, GABRB2, GNAO1, GNB1, HPRT1, KMT2B, Movement Disorders, PANK2, PLA2G6, SGCE, SOX2, TNPO2, TOR1A, UBA5
Conditions
Keywords
Deep Brain Stimulation, DBS, movement disorders, dystonia, genetic
Brief summary
DBS Matchmaker (https://www.dbsmatchmaker.com) is a platform designed to connect clinicians worldwide who are treating rare movement disorders with deep brain stimulation (DBS). It facilitates global collaboration and knowledge sharing to enhance patient care by improving patient selection, counseling, treatment, and outcomes for individuals with movement disorders.
Detailed description
Deep brain stimulation (DBS) is an effective treatment for childhood-onset dystonia and other hyperkinetic disorders, with emerging evidence supporting its use in an expanding range of monogenic movement disorders. While some conditions, such as TOR1A-related dystonia, are well-established indications for DBS, many rare and ultra-rare movement disorders are also being considered for treatment. However, individual centers often have limited experience with these conditions, leading to mostly anecdotal observations. Furthermore, the published literature is often scarce or not up to date. To bridge this gap, DBSMatchMaker (https://www.dbsmatchmaker.com) was developed both as a tool to assist clinicians in determining the appropriateness of DBS for their patients, and in supporting therapy adjustments for patients who already have an implant. By connecting specialists worldwide, DBSMatchMaker seeks to improve patient selection, counseling, treatment, and outcomes for individuals with rare movement disorders, ultimately enhancing care for this underserved patient population. By connecting specialists worldwide, the platform aims to: Improve patient selection and counseling; Enhance treatment strategies and outcomes for individuals with rare movement disorders; Ultimately, DBSMatchmaker seeks to elevate the standard of care for this underserved patient population. Key Features: Global Collaboration: Enables clinicians to connect with peers treating similar conditions with DBS, fostering a worldwide network of specialists. Knowledge Sharing: Facilitates the exchange of experiences and expertise in DBS treatment, promoting collaborative learning. Enhanced Patient Care: Aims to improve treatment outcomes through shared insights and collective knowledge. How It Works: Clinicians can submit information about their cases to DBS Matchmaker. The platform adheres to strict safety and privacy protocols; it does not collect identifiable data, and the database is not searchable by users. Submitted data may be shared with potential collaborators to facilitate connections between medical centers treating similar cases. Developed by the Ebrahimi-Fakhari Laboratory at Boston Children's Hospital, DBS Matchmaker is committed to advancing the care of individuals treated with DBS for rare movement disorders.
Interventions
None listed
Sponsors
Boston Children's Hospital
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Individuals of all ages with genetic movement disorders, who are undergoing or being considered for DBS treatment.
Exclusion criteria
* Individuals who have not undergone DBS treatment.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identify Potential Matches | 5 years | Clinicians can submit their DBS cases through a secure platform (https://www.dbsmatchmaker.com/), which are then reviewed to identify potential matches with other centers treating similar cases. When a match is found, direct connections between medical teams are facilitated to promote collaboration and knowledge sharing. |
| Connect Clinicians & Facilitate Collaboration | 5 years | DBS Matchmaker is a platform designed to connect clinicians worldwide who are treating rare movement disorders with deep brain stimulation (DBS). It facilitates global collaboration and knowledge sharing to enhance patient care. |
Countries
United States
Outcome results
None listed