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

X-linked Adrenoleukodystrophy Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04687007
• Other study ID #: ELA FOA2020-002
• Status: Completed
• Phase: N/A
• Start date: May 20, 2022
• Est. completion date: February 1, 2024

Study information

• Verified date: March 2024
• Source: Leipzig University Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 68
• Est. completion date: February 1, 2024
• Est. primary completion date: November 1, 2023
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Adrenoleukodystrophy
• X-linked Adrenoleukodystrophy

Intervention

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.
• 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.

Locations

Country	Name	City	State
Germany	Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany	Leipzig	Saxony
Germany	Leukodystrophy Outpatient Clinic	Leipzig

Sponsors (2)

Lead Sponsor	Collaborator
Leipzig University Medical Center	European Leukodystrophy Association

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Changes in self-reported quality of life (assessed via Short Form Health Survey, SF-36; range: 0-100, with higher scores indicating better quality of life) 6 months after randomization (=after 6 months SMART-ALD) in the EG compared to waiting list CG		6 months
Secondary	Changes in objectively measured neurological symptoms (Adult Adrenoleukodystrophy Clinical Score, AACS; range: 0-24, with higher scores indicating greater impairment) 6 and 12 months after randomization in the EG compared to waiting list CG		up to 12 months
Secondary	Changes in motor functions (objectively measured via timed 25-foot walk test, T25FW) 6 and 12 months after randomization in the EG compared to waiting list CG		up to 12 months
Secondary	Changes in objectively measured activity index (pedometer - fitness tracker wrist band) 6 and 12 months after randomization in the EG compared to waiting list CG		up to 12 months
Secondary	Changes in self-reported functional status (assessed via Activity of Daily Living Score, ADLs, range: 0-6, with higher scores indicating better functioning) 6 and 12 months after randomization in the EG compared to waiting list CG		up to 12 months
Secondary	Changes in self-reported mental health (Beck Depression Inventory, BDI-II, range: 0-63, with higher scores indicating greater depression) 6 and 12 months after randomization in the EG compared to waiting list CG		up to 12 months
Secondary	Changes in self-reported chronic pain (Brief Pain Inventory, BPI, range: 0-10, with higher scores indicating greater pain) 6 and 12 months after randomization in the EG compared to waiting list CG		up to 12 months
Secondary	Changes in self-reported sleep quality (Pittsburgh Sleep Quality Index, PSQI, range: 0-21, with higher scores indicating worse sleep quality) 6 and 12 months after randomization in the EG compared to waiting list CG		up to 12 months
Secondary	Changes in self-reported fatigue symptoms (Modified Fatigue Impact Scale, MFIS, range: 0-84, with higher scores indicating greater fatigue) 6 and 12 months after randomization in the EG compared to waiting list CG		up to 12 months
Secondary	Changes in self-reported sexual functionality (Female Sexual Function Index, FSFI, range: 2-36, with higher scores indicating better sexual function) 6 and 12 months after randomization in the EG compared to waiting list CG		up to 12 months