SMART-ALD - A New Lifestyle Intervention to Improve Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD)

NCT ID: NCT04687007

Last Updated: 2024-03-13

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 68 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-05-20
• Study Completion Date: 2024-02-01

Brief Summary

X-linked Adrenoleukodystrophy (X-ALD) is one of the most frequent inborn error of metabolism caused by mutations in the ABCD1 gene, which codes for the transporter of saturated very long-chain fatty acids (VLCFA) for peroxisomal degradation, thus causing their toxic accumulation in body fluids and tissues. The clinical spectrum ranges from adrenal insufficiency without neurological symptoms to a rapidly progressive, fatal cerebral demyelinating disease that may occur in childhood as well as later in life. The most frequent phenotype in adulthood is adrenomyeloneuropathy (AMN), a slowly progressive myelopathy and peripheral neuropathy, which may also be prevalent in up to 80% of females carrying the X-ALD gene defect. Since signs and symptoms in females are usually milder and with a later onset, they are frequently underestimated, overlooked or misinterpreted, e.g. as Multiple Sclerosis. Consequently, many women with X-ALD do not receive adequate treatment.

Against this background, the development of new therapeutic interventions with the help of eHealth technology (e.g., counselling and treatment via digital communication tools) is of particular relevance, as it provides cost-effective, regular care even for patients who live remote from Leukodystrophy clinics.

The aims of this study is to evaluate the effectiveness of a multi-approach intervention ("SMART-ALD") on physical and mental well-being and quality of life in n=30 X-ALD symptomatic heterozygous females compared to a waiting list control group (n=30) using electronic health (ehealth) technology.

Conditions

X-linked Adrenoleukodystrophy

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: SUPPORTIVE_CARE
• Blinding Strategy: NONE

Study Groups

SMART-ALD - Experimental group (EG)

Participants will receive 12 months of SMART-ALD intervention

Group Type: EXPERIMENTAL

SMART-ALD

Intervention Type: BEHAVIORAL

At the beginning of SMART-ALD, a multi-professional team evaluates participant's current health status and develops an individual treatment plan together with the participant. The SMART-ALD intervention offers medical, psychological, and social counseling, as well as a physical fitness and disease-specific nutritional program carried out via video consultation. Thus, scope and intensity of SMART-ALD intervention is initially tailored to individual needs and continuously adapted to changes during intervention.

Waiting List - Control group (CG)

Participants will receive 6 months of SMART-ALD after a 6-months waiting period

Group Type: OTHER

Waiting list

Intervention Type: BEHAVIORAL

At the beginning of the study, patients of the waiting list (WL) control condition receive one medical consultation via video consultation, including recommendations to contact their local treating physician if necessary. Individuals are instructed not to seek any other medical or psychological treatment for X-ALD symptoms without informing the study staff. All WL patients are guaranteed 6 months of SMART-ALD intervention after a waiting period of 6 months.

Interventions

SMART-ALD

At the beginning of SMART-ALD, a multi-professional team evaluates participant's current health status and develops an individual treatment plan together with the participant. The SMART-ALD intervention offers medical, psychological, and social counseling, as well as a physical fitness and disease-specific nutritional program carried out via video consultation. Thus, scope and intensity of SMART-ALD intervention is initially tailored to individual needs and continuously adapted to changes during intervention.

Intervention Type: BEHAVIORAL

Waiting list

At the beginning of the study, patients of the waiting list (WL) control condition receive one medical consultation via video consultation, including recommendations to contact their local treating physician if necessary. Individuals are instructed not to seek any other medical or psychological treatment for X-ALD symptoms without informing the study staff. All WL patients are guaranteed 6 months of SMART-ALD intervention after a waiting period of 6 months.

Intervention Type: BEHAVIORAL

Eligibility Criteria

Inclusion Criteria

• Informed consent obtained from the patient or a competent guardian with legal capacity to execute a local Institutional Review Board/Independent Ethics Committee approved consent.
• Females ≥18 years at the time of consent, with proven X-ALD as defined by

1. Elevated VLCFA values, or

2. Mutation in ABCD1 gene

• Neurological symptoms as defined by Adult ALD Clinical Score (AACS) ≥ 2

Exclusion Criteria

• No informed consent and assent
• Any medical condition that may interfere with the study, e.g. severe liver, kidney, active infections or major heart diseases (>New York Heart Association class II)
• Any clinically significant condition with an estimated life-expectancy of <6 months
• Current pregnancy

• Minimum Eligible Age: 18 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

European Leukodystrophy Association

OTHER

Sponsor Role: collaborator

Leipzig University Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Lisa Schäfer

Dr.

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Wolfgang Köhler, MD

Role: PRINCIPAL_INVESTIGATOR

Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany

Locations

Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany

Leipzig, Saxony, Germany

Leukodystrophy Outpatient Clinic

Leipzig, , Germany

Countries

Germany

References

Schafer L, Unterlauft A, Froebrich-Andress B, Wollny C, Rossler M, Fischer R, Bahr C, Lier J, Wasmus DT, Bergner CC, Kohler W. Improving quality of life in rare diseases using disease-specific, multidisciplinary online interventions on the example of rare X-linked adrenoleukodystrophy: a randomized-controlled trial. Ther Adv Neurol Disord. 2025 Sep 28;18:17562864251376109. doi: 10.1177/17562864251376109. eCollection 2025.

Reference Type: DERIVED

PMID: 41030609 (View on PubMed)

Other Identifiers

ELA FOA2020-002

Identifier Type: -

Identifier Source: org_study_id