High Intensity Focused Ultrasound for X-linked Dystonia-parkinsonism

NCT05592028 | Unknown

• 1 other identifier: DoN-001
• Study Type: expanded_access
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

X-linked dystonia-parkinsonism (XDP) is a rare, X-linked, adult-onset, and progressive movement disorder seen almost exclusively in men from Panay Island in the Philippines. The disease is associated with mutations involving the DYT3/TAF1 gene, and all the cases described so far have been linked to Filipino ancestry. Although XDP is very rare globally, the prevalence is 5.74 per 100,000 individuals in Panay Island and 0.31 per 100,000 in the Philippines as a whole. Majority of patients (95%) were males, and the mean age of onset was 39 years. The mean duration of illness was 16 years, and the mean age of death was 55.6 years.

Conditions

X-Linked Dystonia Parkinsonism

Keywords

High intensity focused ultrasound; pallidothalamic tractotomy; transcranial MR-guided focused ultrasound

Interventions

transcranial magnetic resonance-guided focused ultrasound pallidothalamic tractotomy DEVICE

XDP patients will receive unilateral or bilateral transcranial magnetic resonance-guided focused ultrasound pallidothalamic tractotomy.

Eligibility Criteria

• Age: 18 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• years old and above
• have been diagnosed with XDP and confirmed by genetic testing
• have a skull density ratio (SDR) of \>/= 0.35 on CT scan
• have psychiatric and medical clearance
• have passed the neurocognitive test
• have undergone MRgFUS pallidothalamic tractomy, either unilateral or bilateral,

You may not qualify if:

• patients aged less than 18 years old
• patients who have movement disorders other than XDP
• patients with abnormal neuroimaging findings that would preclude MRgFUS lesioning
• Skull SDR \< 0.35
• patients with medical contraindications

Sponsors & Collaborators

• University of the Philippines Manila - Philippine General Hospital: lead

Study Sites (1)

Philippine General Hospital

Manila, 1000, Philippines

AVAILABLE

Related Publications (1)

• Jamora RDG, Khu KJO, Sy MCC, Pascual JSG, Legaspi GD, Aguilar JA. Transcranial magnetic resonance-guided focused ultrasound pallidothalamic tractotomy for patients with X-linked dystonia-parkinsonism: a study protocol. BMC Neurol. 2023 Aug 18;23(1):306. doi: 10.1186/s12883-023-03344-x.

  PMID: 37596524 DERIVED

MeSH Terms

Conditions

Dystonia 3, Torsion, X-Linked

Study Officials

• Roland Dominic G Jamora, MD, PhD

  Department of Neurosciences, University of the Philippines Manila

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Roland Dominic G Jamora, MD, PhD

CONTACT

+63 2 85242338; rgjamora@up.edu.ph

Kathleen Joy O Khu, MD

CONTACT

+63 2 85242338; kokhu@up.edu.ph

Study Design

• Study Type: expanded access
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: August 21, 2022
• First Posted: October 24, 2022
• Last Updated: October 24, 2022

Record last verified: 2022-08

Locations

PH (1)