Using dimethyl fumarate to treat motor problems in adrenomyeloneuropathy

Effect of Dimethyl Fumarate Administered to Patients With Adrenomyeloneuropathy: a Multicenter, Placebo Controlled, Phase IIb/III Trial

This study is testing if a medication called dimethyl fumarate can help improve movement problems in adults with adrenomyeloneuropathy who don’t have brain involvement.

Quick facts

• Phase: Phase2; Phase3
• Study type: Interventional
• Enrollment: 40 (estimated)
• Ages: 18 Years to 65 Years
• Sex: All
• Sponsor: Pujol, Aurora, M.D. (Indiv)
• Locations: 3 sites (L'Hospitalet de Llobregat, Barcelona and 2 other locations)
• Trial ID: NCT06513533 on ClinicalTrials.gov

What this trial studies

This clinical trial aims to evaluate the effectiveness of dimethyl fumarate in improving motor function in adults diagnosed with adrenomyeloneuropathy (AMN) without cerebral involvement. Participants will be randomly assigned to receive either dimethyl fumarate or a placebo daily for 36 months, with regular clinic visits for assessments. The study will also investigate the safety of the treatment and the underlying molecular mechanisms of AMN. By comparing the outcomes between the treatment and placebo groups, researchers hope to determine the potential benefits of dimethyl fumarate for this condition.

Who should consider this trial

Good fit: Ideal candidates for this study are men and women aged 18 to 65 with confirmed adrenomyeloneuropathy and elevated plasma VLCFA levels.

Not a fit: Patients with cerebral involvement or those outside the specified age range may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could significantly improve motor function and quality of life for patients with adrenomyeloneuropathy.

How similar studies have performed: While this approach is novel for adrenomyeloneuropathy, similar studies using dimethyl fumarate for other conditions have shown promising results.

Eligibility criteria

Inclusion Criteria:

* Men and women of 18 to 65 years old at the time of the inclusion, suffering from AMN with:

  * elevated plasma VLCFA
  * ABCD1 gene mutation identified
* Clinical signs of AMN with at least pyramidal signs in the lower limbs and difficulties to walk (EDSS score ≥ 2.0 and ≤ 6.5). EDSS score will also be re-evaluated at M12, M24 and M36.
* Normal brain MRI or brain MRI showing:

  * abnormalities that can be observed in AMN patients without cerebral demyelination with a maximum Loes score of 4
  * and/or stable (≥ 6 months) cerebral demyelination without gadolinium enhancement with a Loes score ≤ 12
* Appropriate steroid replacement if adrenal insufficiency is present
* Potential childbearing women should use an adequate method of contraception to avoid pregnancy throughout the study to minimize the risk of pregnancy. If oral contraceptives are used, the use of an alternative barrier method is recommended.
* Likely to be able to participate in all scheduled evaluations and complete all required study procedures
* Signed and dated written informed consent to participate in the study in accordance with local regulations

Exclusion Criteria:

* Any progressive neurological disease other than AMN
* Leukopenia below 3.0x109/L, lymphopenia below 0.5x109/L or other pathological results in the complete blood count
* Suspected or confirmed progressive multifocal leukoencephalopathy (PML)
* Severe gastrointestinal disease
* Uncontrolled hepatic, renal or cardiovascular disease, or any evolutive malignancy
* Pregnancy and breast-feeding in woman and potential childbearing woman unable or unwilling to use an acceptable contraceptive method during the study
* Any new medication for AMN initiated less than three months prior to inclusion
* Contra-indications for MRI procedure such as subjects with paramagnetic materials in the body as aneurysm clips, pacemakers, intraocular metal or cochlear implants
* Inclusion in another therapeutic clinical trial for ALD
* Not easily contactable by the investigator in case of emergency or not able to call the investigator

Where this trial is running

L'Hospitalet de Llobregat, Barcelona and 2 other locations

• Bellvitge University Hospital — L'Hospitalet de Llobregat, Barcelona, Spain (Recruiting)
• Donostia University Hospital — Donostia / San Sebastian, Spain (Not_yet_recruiting)
• University Hospital 12 de Octubre — Madrid, Spain (Recruiting)

Study contacts

• Principal investigator: Carlos Casasnovas, MD, PhD — Bellvitge University Hospital
• Study coordinator: Aurora Pujol, MD, PhD

Conditions Adrenomyeloneuropathy Without Cerebral Involvement