Recruiting

Observational Study

Sponsor:

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Code:

NCT03624374

Conditions

Leukoencephalopathies

LBSL

Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation

White Matter Disease

Ataxia, Cerebellar

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.

Conditions

Leukoencephalopathies

LBSL

Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation

White Matter Disease

Ataxia, Cerebellar

Study ID

NCT03624374

Start date

Apr 1, 2018

Status verified date

Jul, 2024

Completion date

May, 2029

Anticipated

Primary completion date

May, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

1. Confirmed DARS2 mutation through genetic analysis
2. Ability of the caregiver or participant to speak and understand English at an 8th-grade level

Exclusion Criteria:

  • The vulnerable populations of prisoners, non-viable neonates, pregnant women, adults lacking the capacity to consent, non-English speakers or children who are in foster care or wards of the state.

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Track Natural History of LBSL patients using medical record review [ Time Frame: 4/1/2018 - 3/31/2023 ]
  • Assessment of behavior in patients with LBSL using standardized neurocognitive surveys. [ Time Frame: 4/1/2018 - 3/31/2023 ]
  • Assessment of social communication in patients with LBSL using standardized neurocognitive surveys. [ Time Frame: 4/1/2018 - 3/31/2023 ]
  • Assessment of executive function in patients with LBSL using standardized neurocognitive surveys. [ Time Frame: 4/1/2018 - 3/31/2023 ]
  • Assessment of adaptive function in patients with LBSL using standardized neurocognitive surveys. [ Time Frame: 4/1/2018 - 3/31/2023 ]
  • Assessment of quality of life in patients with LBSL using standardized surveys. [ Time Frame: 4/1/2018 - 3/31/2023 ]
  • Assessment of ataxia in patients with LBSL using wearable sensor technology and standardized clinical scales. [ Time Frame: 4/1/2018 - 3/31/2023 ]
  • Assessment of balance in patients with LBSL using wearable sensor technology. [ Time Frame: 4/1/2018 - 3/31/2023 ]
  • Timed Up and Go Test [ Time Frame: 4/1/2018 - 3/31/2023 ]
  • Long Walk Test [ Time Frame: 4/1/2018 - 3/31/2023 ]

Central Contacts and Locations

Central contacts

Aditii Makwana, MS

667-205-4498makwana@kennedykrieger.org

Jordan Goodman, MS

443-923-2769goodmanj@kennedykrieger.org

Locations

Hugo Moser Center for Leukodystrophies

Recruiting

Baltimore, Maryland, United States, 21205

Contacts

Connor Murray

443-923-2750murrayc@kennedykrieger.org

Principal Investigator:

Ali Fatemi, MD MBA

More Information

Sponsor

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Last update posted

Jul 3, 2024

Last verified

Jul, 2024

Keywords

  • Natural History Study
  • Kennedy Krieger Institute
  • Virtual assessment
  • DARS2
  • Johns Hopkins Hospital

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. on 2024-07-03.