Trial Outcomes & Findings for LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies (NCT NCT02699190)

Last Updated: 2025-11-10

Results Overview

The primary objective of this study is to evaluate changes in diagnostic status in the study cohort for patients who received Whole Genome Sequencing (WGS) as part of clinical care. Differences in diagnostic status will be measured at disclosure of initial results or disclosure of reanalyzed results.

Recruitment status

COMPLETED

Target enrollment

236 participants

Primary outcome timeframe

12 months

Results posted on

2025-11-10

Participant Flow

Participant milestones

Participant milestones
Measure	Prospective Study Cohort This cohort comprises recently identified individuals for whom a clinical decision has been made to pursue whole genome sequencing (WGS) as a first-line diagnostic test. The cohort also includes each subject's biological parents.
Overall Study STARTED	236
Overall Study Affected Patients	80
Overall Study Biological Parents	156
Overall Study COMPLETED	236
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Prospective Study Cohort n=80 Participants This cohort comprises recently identified individuals for whom a clinical decision has been made to pursue whole genome sequencing (WGS) as a first-line diagnostic test. The cohort also includes each subject's biological parents.
Age, Categorical <=18 years	80 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	0 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants
Sex: Female, Male Female	41 Participants n=5 Participants
Sex: Female, Male Male	39 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	2 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	0 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	78 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants
Race (NIH/OMB) Asian	6 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants
Race (NIH/OMB) Black or African American	4 Participants n=5 Participants
Race (NIH/OMB) White	60 Participants n=5 Participants
Race (NIH/OMB) More than one race	4 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	6 Participants n=5 Participants
Region of Enrollment United States	80 participants n=5 Participants

PRIMARY outcome

Timeframe: 12 months

Outcome measures

Outcome measures
Measure	Prospective Study Cohort n=80 Participants This cohort comprises recently identified individuals for whom a clinical decision has been made to pursue whole genome sequencing (WGS) as a first-line diagnostic test. The cohort also includes each subject's biological parents.
Changes in Diagnosis Status (Resulting From WGS)	45 Participants

SECONDARY outcome

Timeframe: 12 months

Population: There were 45/80 participants with diagnostic results and 38 of these subjects had sufficient medical records for 1-year post-Genomic Sequencing (GS) review. The numbers included below (37, 35 and 8) overlap: one participant could be part of the 3 different rows counts.

The secondary objective of this study is to evaluate changes in clinical care in subjects who received a diagnosis through Whole Genome Sequencing (WGS). Differences in clinical care will be evaluated 1 year following disclosure of results.

Outcome measures

Outcome measures
Measure	Prospective Study Cohort n=38 Participants This cohort comprises recently identified individuals for whom a clinical decision has been made to pursue whole genome sequencing (WGS) as a first-line diagnostic test. The cohort also includes each subject's biological parents.
Changes in Clinical Management (Resulting From WGS) Referred to specialists providers for disease monitoring	37 participants
Changes in Clinical Management (Resulting From WGS) Received additional targeted screening	35 participants
Changes in Clinical Management (Resulting From WGS) Eligible for disease modifying treatment	8 participants

Adverse Events

Prospective Study Cohort

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Dr. Adeline Vanderver

The Children's Hospital of Philadelphia

Phone: 215-590-1719

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place