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Study of dimethyl fumarate safety and efficacy in patients with Neurodegeneration with Brain Iron Accumulation (NBIA), including PKAN and MPAN

Verified siteRegistered drugNo placebo
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What is this trial about?

A plain-language summary of the goals, design and what participants do

The study looks at a rare brain condition called Neurodegeneration with brain iron accumulation. This condition includes subtypes such as pantothenate kinase-associated neurodegeneration and mitochondrial membrane protein-associated neurodegeneration. In this condition, brain cells gradually die (neurodegeneration) and excess iron builds up in the brain, leading to movement problems and loss of function. The medication being tested is an oral capsule containing dimethyl fumarate, which is taken by mouth.

The purpose of the study is to see whether the medication is safe and can slow the worsening of symptoms compared with no treatment. Participants will be randomly assigned to receive either the medication or no additional therapy, and neither the participants nor the study staff will know which group each person is in (blinded). Over about 25 weeks, participants will have regular visits where doctors will check for side effects and will use simple questionnaires, such as the MPAN Disease Rating Scale or the PKAN Disease Rating Scale, to see if the disease is staying stable. Blood samples will also be taken to measure substances that indicate brain injury or inflammation, called biomarkers, which are measured in the blood (serum). After the initial period, participants may continue in an open label extension where everyone receives the medication.

The research process

The trial runs in 7 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial visit and consent

    You attend the first study visit after joining the trial. during this visit you sign the consent form and confirm that you meet the eligibility criteria for the study.

  2. Step 2

    Baseline assessments

    The study team records your medical history, performs a physical examination, and measures your current disease status using the mpan disease rating scale or the pkan disease rating scale, depending on your diagnosis.

    Blood samples are taken to measure baseline levels of neurodegeneration and inflammation biomarkers such as tau, uch l1, gfap, nfl, s100b, and others.

  3. Step 3

    Randomization

    You are randomly assigned to receive either dimethyl fumarate or no additional treatment (control group). the assignment is blinded, meaning you and the study staff do not know which group you are in during the 25‑week period.

  4. Step 4

    Start of medication

    If you are assigned to the active group, you begin taking dimethyl fumarate capsules by mouth.

    The initial dose is 240 mg per day, taken as two 120 mg gastro‑resistant capsules once daily.

    After a short titration period (typically a few weeks), the dose is increased to 480 mg per day, taken as two 240 mg gastro‑resistant capsules once daily.

    The medication is continued for a total of 25 weeks.

  5. Step 5

    Regular monitoring visits

    You attend scheduled clinic visits approximately every four weeks.

    At each visit the study staff checks for any adverse events (side effects), records vital signs, and may draw blood to monitor the biomarkers listed in the baseline assessment.

    The disease rating scale is repeated at selected visits to track disease stability.

  6. Step 6

    End of double‑blind period

    After 25 weeks you complete the final assessment for the blinded phase.

    The study team evaluates safety by reviewing all reported adverse events and serious adverse events.

    Efficacy is assessed by comparing your disease rating scale score and biomarker changes to the baseline values.

  7. Step 7

    Open label extension (optional)

    If you choose to continue, you may enter an open label extension where all participants receive dimethyl fumarate.

    The same dosage (480 mg per day) and monitoring schedule are continued for an additional period, allowing further observation of safety and disease progression.

Who can join the trial?

4 criteria

  • You have a confirmed change (a mutation) in the C19orf12 or PANK2 gene that is known to cause the condition.
  • You (or your legal representative) must sign an informed consent form, showing you understand the study and agree to take part.
  • You must be a male or female who is 13 years old or older.
  • If you are a female who could become pregnant (childbearing potential), you need a negative pregnancy test at the screening visit and must use a highly effective method of contraception (such as birth‑control pills, IUD, etc.) during the study.

Who cannot join the trial?

9 criteria

  • Lack of genetic confirmation of MPAN or PKAN – you must have a genetic test that shows the specific gene change.
  • Use of immunosuppressive ( medicines that lower the immune system) or immunomodulatory ( medicines that change how the immune system works) treatment within the past 6 months.
  • Having hepatic (liver) or renal insufficiency (kidney problems) that affect organ function.
  • Being pregnant at the time of the study.
  • Showing any clinical (symptoms) or laboratory (test) signs of an infection.
  • Having a severe cardiorespiratory disease – serious heart or lung condition.
  • Having severe lymphopenia – a very low count of lymphocytes, which are a type of white blood cell.
  • Being unable to communicate effectively.
  • Having a very severe neurological status where, in the view of the Principal Investigator, the risks of the study outweigh any possible benefit.
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Investigated drugs

Dimethyl fumarate is an oral medication that comes in a hard, gastro‑resistant capsule designed to dissolve in the intestine. In this study, it is being tested to see if it is safe and can help improve symptoms for people with Neurodegeneration with Brain Iron Accumulation (NBIA), including the MPAN and PKAN forms of the disease. The drug is thought to work by reducing inflammation and modifying the immune system, which may protect brain cells and slow the disease’s progression.

What is already known about the treatment

  • Dimethyl fumarate Polpharma, 120 mg, kapsułki dojelitowe, twarde

    This medication is taken by mouth as a gastro‑resistant hard capsule that releases dimethyl fumarate in the intestine. It is an approved drug for treating relapsing multiple sclerosis and has been studied for psoriasis, so it is well known in medical literature. In this trial it is being tested for neurodegeneration with brain iron accumulation, a rare brain disorder. Dimethyl fumarate works by activating the body’s Nrf2 pathway, which helps lower inflammation and protect cells from damage, and it is classified as an immunomodulatory/antioxidant agent.

  • Dimethyl fumarate Polpharma, 240 mg, kapsułki dojelitowe, twarde

    This version is also an oral gastro‑resistant hard capsule, delivering a higher dose of dimethyl fumarate for patients who need more medication. Like the 120 mg capsule, it is already approved for multiple sclerosis and has a solid record in scientific studies. The trial uses it to see if it can improve symptoms of neurodegeneration with brain iron accumulation. It works by turning on the Nrf2 cellular defense system to reduce inflammation and oxidative stress, and it belongs to the class of fumaric acid ester immunomodulators.

Investigated diseases

  • Neurodegeneration with brain iron accumulation (NBIA)

    It is a rare inherited group of disorders marked by abnormal iron buildup in the brain, especially in the basal ganglia. The excess iron gradually damages nerve cells, leading to loss of movement control, muscle stiffness, and speech difficulties. Symptoms often start in childhood or early adulthood and become more pronounced over time. The disease follows a progressive course with increasing motor and sometimes cognitive impairment.

  • Pantothenate kinase-associated neurodegeneration (PKAN)

    This subtype of NBIA results from mutations in the PANK2 gene and causes iron deposition mainly in the globus pallidus. The iron accumulation produces a characteristic eye‑movement sign and progressive dystonia. Motor problems typically begin in childhood and worsen, causing difficulty walking, speaking, and performing daily tasks. The condition shows a steady decline in motor function as the disease advances.

  • Mitochondrial membrane protein-associated neurodegeneration (MPAN)

    MPAN is another NBIA subtype caused by mutations in the C19orf12 gene, leading to iron accumulation in brain regions that control movement. Affected individuals develop spasticity, gait disturbances, and sometimes psychiatric changes. Symptoms usually appear in adolescence and slowly worsen, impairing coordination and strength. The disease progresses gradually, resulting in increasing disability over time.

Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IITrial ID2026-525990-38-00Protocol codeIPIN-NBIADMF-01Estimated enrolment40 patientsSponsorInstytut Psychiatrii I Neurologii

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