Treating leg symptoms in women with X-linked adrenoleukodystrophy

Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy: A Key to Improving Sleep and Gait Performance

This study is testing if a medication called pramipexole can help improve restless leg symptoms and sleep quality in women with X-linked adrenoleukodystrophy.

Quick facts

• Phase: Phase 4
• Study type: Interventional
• Enrollment: 24 (estimated)
• Ages: 18 Years to 75 Years
• Sex: Female
• Sponsor: Massachusetts General Hospital (Academic / other)
• Locations: 2 sites (Boston, Massachusetts and 1 other locations)
• Trial ID: NCT05003648 on ClinicalTrials.gov

What this trial studies

This study aims to estimate the prevalence of Restless Leg Syndrome (RLS) among women with X-linked adrenoleukodystrophy (ALD) and evaluate the effectiveness of pramipexole in improving RLS symptoms, sleep quality, and gait measures. The study will enroll 100 women diagnosed with ALD across two sites: Massachusetts General Hospital and University Medical Center Amsterdam. Participants will be assessed for their symptoms and will receive either pramipexole or a placebo in a crossover design. The study seeks to address the underrecognized movement disorders in women with ALD.

Who should consider this trial

Good fit: Ideal candidates for this study are women aged 18-75 with a confirmed diagnosis of X-linked adrenoleukodystrophy and experiencing moderate to severe Restless Leg Syndrome.

Not a fit: Patients with inflammatory brain demyelination or those who are pregnant will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide effective treatment options for women with ALD suffering from Restless Leg Syndrome, improving their quality of life.

How similar studies have performed: Other studies have shown success with dopamine agonists for treating primary Restless Leg Syndrome, suggesting potential for this approach in women with ALD.

Eligibility criteria

PHASE 1 (PREVALENCE STUDY)

Inclusion Criteria:

1. Women of any ethnic origin.
2. Ability to provide verbal consent
3. A willingness and ability to comply with study procedures.
4. Age 18-75 years
5. Metabolically or genetically confirmed diagnosis of ALD

Exclusion Criteria:

1. Inflammatory brain demyelination

PHASE 2 (CROSS-OVER STUDY)

Inclusion Criteria:

1. Participation in Phase 1
2. Ability to provide written informed consent
3. Women with ALD who have Restless Leg Syndrome (IRLS \> 15)

Exclusion Criteria:

1. Pregnant. Research staff perform pregnancy tests upon visit to center.
2. Participants with active or unstable major psychiatric disorder other than ALD, who, in the investigators' judgement, require further treatment
3. Use of dopaminergic agonists or antagonists within the last 30 days
4. Alcohol use disorder within the last 30 days
5. History of being treated for restless legs syndrome, specifically with dopamine agonist medications
6. Methamphetamine or benzodiazepine dependence in the last 30 days
7. Neurological disorder or cardiovascular disease raising safety concerns about use of pramipexole and/or judged to interfere with ability to assess efficacy of the treatment
8. Medical instability considered to interfere with study procedures
9. Renal disease judged to interfere with drug metabolism and excretion

Where this trial is running

Boston, Massachusetts and 1 other locations

• Massachusetts General Hospital — Boston, Massachusetts, United States (Recruiting)
• University Medical Center of Amsterdam — Amsterdam, Netherlands (Recruiting)

Study contacts

• Principal investigator: Florian S Eichler, MD — Massachusetts General Hospital
• Study coordinator: Riya Saxena

Conditions Adrenoleukodystrophy; Restless Legs Syndrome