Recruiting

Observational Study

Sponsor:

Ionis Pharmaceuticals, Inc.

Code:

NCT05659901

Conditions

Pelizaeus-Merzbacher Disease

Eligibility Criteria

Sex: Male

Age: 0 - 17

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The purpose of the study is to prospectively assess longitudinal changes in proteolipid protein 1 (PLP1) protein, disease-related biomarkers in cerebral spinal fluid (CSF) and blood, neuroimaging parameters relevant to Pelizaeus-Merzbacher disease (PMD) and longitudinal changes in performance on clinical, participant, and caregiver-reported outcome assessments to inform the development of therapies for PMD.

Conditions

Pelizaeus-Merzbacher Disease

Study ID

NCT05659901

Start date

Oct 3, 2022

Status verified date

Apr, 2026

Completion date

Mar, 2029

Anticipated

Primary completion date

Mar, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Male

Age: 0 - 17

Healthy Volunteers: Not accepted

Inclusion Criteria:

1. Participant has a parent or caregiver capable of providing informed consent (signed and dated) and able to attend all scheduled study visits and provide feedback regarding the participant's symptoms and performance as described in the protocol and be able to comply with all study requirements
2. Participant has a diagnosis of Pelizaeus-Merzbacher Disease with genetic confirmation of PLP1 duplication
3. Male, 6 months-17 years old, inclusive, at the time of informed consent and phenotype consistent with classic PMD
4. No contraindications for lumbar punctures (LPs), blood draws, neuroimaging, sedation (if necessary) or other study procedures

Exclusion Criteria:

1. Clinically significant abnormalities in medical history or physical examination
2. > 2 copies of the PLP1 gene
3. Have any other conditions, which, in the opinion of the investigator would make the participant unsuitable for inclusion, or could interfere with the participant taking part in or completing the study

Study Design

Enrollment

32 participants

Anticipated

Interventions and Outcome Measures

Arms

Pelizaeus-Merzbacher Disease Participants

Participants will undergo CSF collection and neuroimaging procedures, up to Week 106 as a part of prospective study. Each participant's medical and family history data will be collected retrospectively from available medical notes and charts, from birth up to the end of the study period (up to 26 months).

Primary outcome measure

  • Assess Longitudinal Changes in Fluid Biomarkers [ Time Frame: Up to 26 months ]
  • Assess Longitudinal Changes in Neuroimaging Parameters [ Time Frame: Up to 26 months ]
  • Assess longitudinal changes in performance on clinical, and patient and caregiver-reported outcome assessments [ Time Frame: Up to 26 months ]

Central Contacts and Locations

Central contacts

Ionis Pharmaceuticals

(844) 430-1848IonisPelizaeusMerzbacherStudy@clinicaltrialmedia.com

Locations

Ionis Investigative Site

Recruiting

Atlanta, Georgia, United States, 30342

Ionis Investigative Site

Recruiting

Philadelphia, Pennsylvania, United States, 19104

More Information

Sponsor

Ionis Pharmaceuticals, Inc.

Last update posted

Apr 17, 2026

Last verified

Apr, 2026

Keywords

  • PMD

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Ionis Pharmaceuticals, Inc. on 2026-04-17.