NCT04303416

Plasma Exchange With Albumin in AMN Patients

Completed Phase 2, PHASE3 Last updated 22 September 2022

What this trial tests

Phase 2, PHASE3 trial testing Albumin solution in Adrenomyeloneuropathy in 5 participants. Completed in 13 September 2021.

Timeline

9 March 2020

Primary endpoint
24 February 2021

13 September 2021

Quick facts

Lead sponsor	Pujol, Aurora, M.D.
Phase	Phase 2, PHASE3
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	treatment
Enrollment	5
Start date	9 March 2020
Primary completion	24 February 2021
Estimated completion	13 September 2021
Sites	1 location across Spain

Drugs / interventions tested

• Albumin solution

Conditions studied

• Adrenomyeloneuropathy — all drugs for Adrenomyeloneuropathy →
• Adrenoleukodystrophy — all drugs for Adrenoleukodystrophy →

Sponsor

Pujol, Aurora, M.D.

Who can join

Adults 18 to 65, male only, with Adrenomyeloneuropathy or Adrenoleukodystrophy. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Adrenoleukodystrophy (X-ALD) is the most common genetic disorder of the brain white matter with an incidence of 1:14,700 births. It is caused by mutations in the ABCD1 gene, which encodes a transporter of very long-chain fatty acids (VCLFA) into the peroxisome for degradation. As a consequence VLCFA accumulate in tissues and plasma being the pathognomonic biomarker for diagnosis. The excess of VLCFA produces mitochondrial ROS and oxidative damage, a major factor driving X-ALD pathogenesis. Other key dysregulated pathways are energy production, mitochondrial biogenesis and respiration, proteostasis, and ER stress. Current therapeutic options are unsatisfactory, restricted to bone marrow transplant and gene therapy, for which most patients do not qualify. The encouraging results of plasma exchange (PE) with albumin replacement for Alzheimer's Disease prompted us to start this study. Our rationale is the following: In plasma, VLCFA are transported by lipoproteins and albumin. Albumin is the major transporter of fatty acids (FA) to the brain. ABCD1 deficiency induces inflammation and increases blood-brain barrier leakage, which could facilitate increased permeability to albumin. We posit that replacement of albumin would lower VLCFA levels in plasma through peripheral sink mechanisms, diminishing the quantity of VLCFA reaching the brain, and would prevent lipid peroxidation. A pilot proof-of-concept study in 5 X-ALD patients will be carried out to replace endogenous albumin through PE applied, once a week the first month and monthly for 5 months. A 6 months follow-up after the end of the treatment will be carried out.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.