Disease Progression in Women With X-linked Adrenoleukodystrophy

An Observational Study to Assess Disease Progression in Women With X-linked Adrenoleukodystrophy

Observational, single-site prospective and minimally interventional study in women with X-linked adrenoleukodystrophy (ALD), conducted in France.

Study Overview

• Status: Recruiting
• Conditions: X-linked Adrenoleukodystrophy

Detailed Description

Patients accepting participation (after signing ICF) will be followed up to at least 2 years or until they started treatment for X-linked adrenoleukodystrophy (ALD) or withdraw consent, whichever occurs first. Follow-up will be extended beyond 2 years if deemed appropriate after an interim report. Tests and questionnaires will be assessed at baseline and yearly. If the study is extended, beyond 2 years, patients will be assessed at 1-year intervals.

At baseline visit and follow-up visits, patients will undergo an MRI of the brain and the spinal cord and assessments of body sway, EDSS, ADL, pain VAS and SF-36 questionnaire. Plasma biomarkers will be assessed from samples obtained through routine blood draw and a monthly falls diary will be provided each visit to be completed once a month.

This study will not assess any specific medicinal product or intervention, and the study will not interfere with that prescribed in clinical practice.

• Study Type: Observational
• Enrollment (Estimated): 40

Contacts and Locations

• Study Contact: Name: Arun Mistry; Phone Number: +34935441466; Email: amistry@minoryx.com

Study Locations

• France
  • Paris, France, 75013
    • Recruiting
    • Paris Brain Institute (ICM) Centre Hospitalier Universitaire Pitié Salpêtrière
    • Contact: Fanny Mochel, Professor; Phone Number: +33 1 57 27 40 00; Email: fanny.mochel@icm-institute.org
    • Principal Investigator: Fanny Mochel, Professor

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The study will include up to 40 adult women with X-linked ALD who attend to a regular visit, who meet all inclusion criteria and none of the exclusion criteria.

Description

Inclusion Criteria:

1. Women aged 18 years old or older.
2. Diagnosis of X-linked ALD based on genetic testing, altered VLCFA levels, or family history.
3. Willing to undergo annual follow-up visits, including brain and spinal cord MRI scans.
4. Provision of written informed consent.
5. Affiliation or beneficiary of a French social security system or of such a regime.

Exclusion Criteria:

1. Any condition that in the opinion of the investigator are likely to adversely affect the study participation, interfere with study compliance, or confound the study results.
2. Under treatment or previous treatment with leriglitazone.
3. Pregnant or lactating women.
4. Subjects benefiting from laws aimed at protecting vulnerable adults: subjects being deprived of liberty by judicial or administrative decision, subjects under guardianship.
5. Participation in an interventional clinical trial.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Spinal cord magnetization transfer ratio (MTR)	To assess the disease evolution on spinal cord MRI	Change from baseline up to 2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Spinal cord morphometry. Cross sectional area (CSA) to cover the C1 to C7 vertebral levels.	To assess the disease evolution on spinal cord MRI	Change from baseline up to 2 years
Spinal cord diffusion image analysis parameters: Fractional Anisotropy (FA), Radial Diffusivity (RD), Axial Diffusivity (AD), Mean Diffusivity (MD) at the cervical levels C1-C5.	To assess the disease evolution on spinal cord MRI	Change from baseline up to 2 years
Brain diffusion image analysis parameters: Fixel-Based analysis (FBA) (Fiber Density (FD), Fiber cross-section (FC) and combination of FD and FC), Diffusion tensor imaging (DTI) (FA, RD, AD, MD, Markers of severity and markers of evolution).	To assess the disease evolution on brain MRI	Change from baseline up to 2 years
Body sway amplitude (considering antero-posterior and medio-lateral sway with eyes closed, feet apart; eyes open, feet apart; eyes closed, feet together; eyes open, feet together)	To assess clinical evolution of myelopathy	Change from baseline up to 2 years
Expanded Disability Status Scale (EDSS)	To assess the impact on Quality of Life	Change from baseline up to 2 years
Activities of Daily Living (ADL)	To assess the impact on Quality of Life	Change from baseline up to 2 years
Pain Visual Analogue Scale (Pain VAS)	To assess the impact on Quality of Life	Change from baseline up to 2 years
Monthly falls	To assess the impact on Quality of Life	Change from baseline up to 2 years
Short Form Health Survey (SF-36)	To assess the impact on Quality of Life	Change from baseline up to 2 years
Plasma biomarkers (NFL, MMP-9, IL-18, MIP-1beta and IL-1Ra)	To assess the evolution of plasma biomarkers	Change from baseline up to 2 years

Collaborators and Investigators

• Sponsor: Minoryx Therapeutics, S.L.

Study record dates

Study Major Dates

• Study Start (Actual): January 2, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): June 1, 2027

Study Registration Dates

• First Submitted: November 28, 2023
• First Submitted That Met QC Criteria: December 11, 2023
• First Posted (Actual): December 20, 2023

Study Record Updates

• Last Update Posted (Estimated): January 31, 2024
• Last Update Submitted That Met QC Criteria: January 29, 2024
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Demyelinating Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Endocrine System Diseases; Disease Attributes; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Leukoencephalopathies; Adrenal Gland Diseases; Hereditary Central Nervous System Demyelinating Diseases; Peroxisomal Disorders; Adrenal Insufficiency; Disease Progression; Adrenoleukodystrophy
• Other Study ID Numbers: MT-NH-01

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No