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

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

Interventions

BEHAVIORAL

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.

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.

Sponsors & Collaborators

• European Leukodystrophy Association

  collaborator OTHER

• Leipzig University Medical Center

  lead OTHER

Principal Investigators

• Wolfgang Köhler, MD · Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany

Study Design

Allocation

RANDOMIZED

Purpose

SUPPORTIVE_CARE

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

18 Years

Sex

FEMALE

Healthy Volunteers

No

Timeline & Regulatory

Start

2022-05-20

Primary Completion

2023-11-01

Completion

2024-02-01

Countries

• Germany

Study Locations