Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients with Pelizaeus-Merzbacher disease

Recruiting

• Conditions: leukodystrophy; Pelizaeus-Merzbacher disease; white matter disease; 10083624; 10012303

• Registration Number: NL-OMON51633
• Lead Sponsor: Ionis Pharmaceuticals, Inc.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 10

Inclusion Criteria

Key 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-8 years old, inclusive, at the time of informed consent and
phenotype
consistent with classic PMD
4. No contraindications for LP*s, blood draws, neuroimaging, sedation (if
necessary) or
other study procedures
5. Medically stable who can undergo sedation or general anesthesia

Exclusion Criteria

Key Exclusion Criteria
Clinically significant abnormalities in medical history (e.g., clinically
significant renal,
hepatic, or cardiac abnormalities; systemic infection within 3 months of
Screening; major
surgery within 3 months of Screening) or physical examination
2. Phenotype consistent with SPG2
3. Unwillingness or inability to comply with study procedures, including
follow-up, as
specified by this protocol, or unwillingness to cooperate fully with the
Investigator
4. Any contraindications or unwillingness to undergo a LP, including but not
limited to:
a. Platelet count < 100,000/µL
b. International normalized ratio (INR) > 1.4
c. Prothrombin time (PT) or partial thromboplastin time (PTT) > upper limit of
normal
(ULN)
d. History of bleeding disorder
e. Use of Warfarin
f. Suspected raised intracranial pressure as determined by the Investigator
g. Suspected spinal epidural abscess as determined by the Investigator
h. History of intolerance to the LP procedures (e.g., severe headache) as
determined by
the Investigator
i. Evidence of infection at the anticipated LP site as determined by the
Investigator
j. Significant lower spinal deformity, prior spinal fusion surgery, or other
spinal surgery
at LP site
5. Active infection with human immunodeficiency virus (HIV), hepatitis C or
hepatitis B
diagnosed by initial serological testing and confirmed with ribonucleic acid
(RNA)
testing, or prior treatment for hepatitis C. Patients at Screening who test
positive by
serology, but negative by RNA may be allowed by the Investigator in
consultation with
the Sponsor medical monitor
6. LP procedure 30 days or less before the CSF collection visit
7. Malignancy within 5 years, except for basal or squamous cell carcinoma of
the skin or
carcinoma in situ of the cervix that has been successfully treated. Patients
with a history
of other malignancies that have been treated with curative intent and which
have no
recurrence within 5 years may also be eligible if approved by the Sponsor
medical
monitor
8. Treatment with another investigational drug, gene therapy, stem cell
therapy, biological
agent, or device within 30 days of Screening, or 5 half-lives of
investigational agent,
whichever is longer
9. Previous treatment with an oligonucleotide (including siRNA) within 4 months
of screening if single dose received, or within 12 months of Screening if
multiple doses received. This exclusion does not apply to vaccines (both mRNA
and viral vector vaccines).
10. History of severe allergic or anaphylactic reactions or other adverse
reactions to anesthetics used in this study
11. Active bacterial or viral infection
12. Have any other conditions, which, in the opinion of the Investigator would
make the subject unsuitable for inclusion, or could interfere with the subject
participating in or completing the study

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified