Status:

RECRUITING

Dimethyl Fumarate in Adrenomyeloneuropathy

Lead Sponsor:

Pujol, Aurora, M.D.

Collaborating Sponsors:

Instituto de Salud Carlos III

Spanish Clinical Research Network - SCReN

Conditions:

Adrenomyeloneuropathy Without Cerebral Involvement

Eligibility:

All Genders

18-65 years

Phase:

PHASE2

PHASE3

Brief Summary

The goal of this clinical trial is to determine if dimethyl fumarate is effective in treating motor problems in adults with Adrenomyeloneuropathy. The trial will also assess the safety of dimethyl fum...

Detailed Description

Adrenoleukodystrophy (X-ALD) is the most prevalent rare genetic disorder affecting the brain's white matter. It is caused by mutations in the ABCD1 gene, which encodes a transporter involved in the de...

Eligibility Criteria

Inclusion

  • 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

  • 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

Key Trial Info

Start Date :

April 23 2024

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

June 30 2028

Estimated Enrollment :

40 Patients enrolled

Trial Details

Trial ID

NCT06513533

Start Date

April 23 2024

End Date

June 30 2028

Last Update

July 25 2024

Active Locations (3)

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Page 1 of 1 (3 locations)

1

Bellvitge University Hospital

L'Hospitalet de Llobregat, Barcelona, Spain, 08907

2

Donostia University Hospital

Donostia / San Sebastian, Spain, 20014

3

University Hospital 12 de Octubre

Madrid, Spain, 28041