Clinical research in PMD

ClinicalTrials.gov ID: NCT05659901

Full study title: Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease

Study assessments: 

• Motor function (ability to move)
• Cognition (learning and memory)
• Overall disease severity
• Sleep problems
• Daily living skills
• Brain imaging
• Hearing tests (EEG)

Who may be eligible to participate: 

• Ages 6 months – 17 years
• Diagnosis of PMD with PLP1 duplication
• Participant has a parent or caregiver who can provide informed consent and attend study visits
• Able to take part in study assessments and visits

Learn more on ClinicalTrials.gov

ClinicalTrials.gov ID: NCT06150716

Full study title: A Phase 1b Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION356 in Patients With Pelizaeus Merzbacher Disease

What is ION356? ION356 is an intrathecally administered (injected into the spine) investigational RNA-targeted treatment that is designed to reduce the production of PLP1 in the brain.

Study assessments:

• Motor function (ability to move)
• Cognition (learning and memory)
• Overall disease severity
• Sleep problems
• Daily living skills
• Brain imaging
• Hearing tests (EEG)

Who may be eligible to participate:

• Ages 6 months – 17 years
• Diagnosis of PMD with PLP1 duplication
• Able to take part in study assessments and visits
• Has a parent or caregiver who can provide informed consent and attend study visits

Learn more on ClinicalTrials.gov

ClinicalTrials.gov ID: NCT02254863

Full study title: Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells

What is DUOC-01? DUOC-01 is an investigational cell therapy made from donated umbilical cord blood, which is believed to help protect and repair myelin, the protective coating around nerves that is damaged in conditions like PMD.

Study assessments:  

• UCB transplantation
• Hospital visits and medical monitoring
• Brain scans (MRI)
• EEG testing to monitor brain activity
• Neurological and developmental assessments
• Hearing and vision testing
• Blood tests and routine health monitoring
• Monitoring for side effects or treatment-related complications

Who may be eligible to participate:  

• Ages 1 week – 21 years
• Diagnosis of PMD or another inherited neurological condition affecting myelin
• Showing signs of neurological involvement or disease progression
• Healthy enough to undergo transplantation and study procedures
• Have a parent or caregiver able to provide consent and support participation

Learn more on ClinicalTrials.gov

ClinicalTrials.gov ID: NCT03047369

Full study title: The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network

Study assessments: 

• Sharing medical history and health information
• Physical and neurological examinations
• Blood, skin punch biopsy, cerebrospinal fluid, urine biological sample collection
• Developmental and motor assessments
• Follow-up visits or questionnaires over time

Who may be eligible to participate: 

• Male or female participant of any age
• Suspected or confirmed diagnosis of PMD, PMLD, or another disorder affecting the white matter of the brain
• Able to provide clinical data, biologic samples and complete study assessments
• Has a parent or caregiver who can provide informed consent and attend study visits

Learn more on ClinicalTrials.gov

A clinical trial is a research study that helps researchers learn more about a disease, evaluate potential treatments, or better understand how a condition changes over time.

Some clinical trials test investigational medicines or therapies, while others collect information about symptoms, quality of life, or disease progression. Every study has specific goals, eligibility criteria, and procedures.

Research into PMD and PMLD is ongoing, and there may be clinical trials, natural history studies, registries, or other research opportunities available at different times.

Visit our Research & progress page to find the most up-to-date studies currently recruiting. We also encourage you to discuss potential opportunities with your child’s care team.

At present, there is no cure for PMD or PMLD.

However, researchers around the world are working to better understand these rare conditions and develop potential new therapies. Clinical trials play an important role in this process by helping researchers evaluate whether new approaches are safe and effective.

Clinical trials are carefully regulated and monitored to help protect participants.

Before a study can begin, it must undergo review by ethics committees and regulatory authorities. Participants and caregivers are provided with detailed information about the study, including potential risks and benefits, before deciding whether to take part.

However, all research carries some level of uncertainty, which is why it is important to discuss whether it is right for your family with your healthcare team and the study investigators.

Clinical trials are designed to answer research questions, and it is not possible to guarantee that an individual participant will benefit directly from taking part.

Some families choose to participate because they wish to contribute to research, while others may be interested in accessing investigational therapies or specialist care teams.

A clinical trial typically evaluates an investigational treatment, therapy, or intervention.

A natural history study does not test a treatment. Instead, it follows individuals over time to better understand how a condition progresses, identify potential biomarkers, and gather information that may support future therapeutic development.

Both types of research are important for advancing knowledge about PMD and PMLD.