Clinical trial NCT06912841: Deep Brain Stimulation (DBS) MatchMaker
Official title: Deep Brain Stimulation (DBS) MatchMaker
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: TOR1A
PANK2
HPRT1
EIF2AK2
SOX2
KMT2B
GABRB2
ADCY5
UBA5
GNAO1
SGCE
TNPO2
GNB1
PLA2G6
Movement Disorders
Dystonia
Chorea
Keywords: Deep Brain Stimulation
DBS
movement disorders
dystonia
genetic
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
First posted: 2025-04-06
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population consists of individuals with rare genetic movement disorders characterized by childhood-onset dystonia and other hyperkinetic disorders. Cases involve individuals being considered for or undergoing treatment with deep brain stimulation (DBS).

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Identify Potential Matches
timeFrame: 5 years
measure: Connect Clinicians & Facilitate Collaboration
timeFrame: 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
Study officials:
References: