Actively Recruiting

Phase 2
Phase 3
Age: 18Years - 65Years
All Genders
ID06513533

Effect of Dimethyl Fumarate in Adults With Adrenomyeloneuropathy: A Multicenter, Placebo-Controlled Phase IIb/III Study

Led by Pujol, Aurora, M.D. · Updated on 2024-07-25

40

Participants Needed

3

Research Sites

13 weeks

Total Duration

On this page

Sponsors

P

Pujol, Aurora, M.D.

Lead Sponsor

I

Instituto de Salud Carlos III

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are evaluating the use of dimethyl fumarate to treat motor problems in adults with Adrenomyeloneuropathy (AMN), a form of X-linked Adrenoleukodystrophy caused by mutations in the ABCD1 gene. This rare genetic disorder leads to the buildup of very long-chain fatty acids, causing chronic progressive spastic paraplegia and difficulties with movement. The study aims to assess both the effectiveness and safety of dimethyl fumarate and to explore the molecular mechanisms underlying AMN. Participants will be randomly assigned to receive either dimethyl fumarate or a placebo daily for 36 months. For the first 24 months, some will take dimethyl fumarate while others take a placebo, after which all participants will receive dimethyl fumarate for the remaining 12 months. The drug is given orally at a dose of 480 mg per day, and the trial includes a triple-blind design to compare outcomes accurately. Participants will visit the clinic at the start, then at 3 months, 6 months, and every 6 months thereafter for checkups and tests including walking tests, strength assessments, and brain imaging. Researchers will monitor motor functions with postural sway tests over 36 months and will collect molecular data to understand disease mechanisms. The study includes detailed evaluations to track safety, adherence, and progression, with continued follow-up for a total participation period of 36 months.

CONDITIONS

Brief Title

Dimethyl Fumarate in Adrenomyeloneuropathy

Who Can Participate

Age: 18Years - 65Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Men and women aged 18 to 65 years at the time of inclusion
  • Diagnosis of Adrenomyeloneuropathy (AMN) with elevated plasma very long-chain fatty acids (VLCFA) and confirmed ABCD1 gene mutation
  • Clinical signs of AMN including pyramidal signs in the lower limbs and walking difficulties with EDSS score between 2.0 and 6.5
  • Normal brain MRI or MRI showing AMN-related abnormalities without cerebral demyelination, with a maximum Loes score of 4 or stable cerebral demyelination with Loes score up to 12
  • Appropriate steroid replacement if adrenal insufficiency is present
  • Potential childbearing women must use adequate contraception during the study
  • Ability to participate in all scheduled evaluations and complete required procedures
  • Signed and dated informed consent according to local regulations
Not Eligible

You will not qualify if you...

  • Any progressive neurological disease other than AMN
  • Leukopenia below 3.0x10^9/L, lymphopenia below 0.5x10^9/L, or other abnormal blood counts
  • Suspected or confirmed progressive multifocal leukoencephalopathy (PML)
  • Severe gastrointestinal disease
  • Uncontrolled liver, kidney, or heart disease, or any evolving cancer
  • Pregnancy, breastfeeding, or inability/unwillingness to use acceptable contraception
  • New medication for AMN started less than three months before inclusion
  • Contraindications to MRI such as metal implants or pacemakers
  • Participation in another therapeutic clinical trial for ALD
  • Not easily contactable or unable to call investigator in emergencies

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Treatment

Duration - Up to 36 months

Participants receive oral dimethyl fumarate or placebo tablets twice daily. The placebo group receives placebo for 24 months followed by dimethyl fumarate for 12 months; the active group receives dimethyl fumarate for 36 months.

Regular visits over 36 months for assessments including walking tests, strength, and brain imaging

Trial Site Locations

Total: 3 locations

1

Bellvitge University Hospital

L'Hospitalet de Llobregat, Barcelona, Spain, 08907

Actively Recruiting

2

Donostia University Hospital

Donostia / San Sebastian, Spain, 20014

Not Yet Recruiting

3

University Hospital 12 de Octubre

Madrid, Spain, 28041

Actively Recruiting

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Research Team

A

Aurora Pujol, MD, PhD

S

Stéphane Fourcade, PhD

How is the study designed?

Study Type

INTERVENTIONAL

Masking

TRIPLE

Allocation

RANDOMIZED

Model

PARALLEL

Primary Purpose

TREATMENT

Number of Arms

2

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