Clinical trial NCT04687007: SMART-ALD - A New Lifestyle Intervention to Improve Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD)
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)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: X-linked Adrenoleukodystrophy
Keywords: Adrenoleukodystrophy
Adrenomyeloneuropathy
Genetic Diseases, X-Linked
Rare White Matter Disorders
Female Carriers
Women with X-ALD
Peroxisomal Disorders
eHealth Intervention
Central Nervous System Diseases
Heterozygous Carriers
Quality of Life
Lifestyle Intervention
Lead sponsor: Leipzig University Medical Center
Sponsor class: OTHER
Collaborators: name: European Leukodystrophy Association
First posted: 2020-12-29
Enrollment: 68
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Intervention model description: Participants will be randomized to 12 months of SMART-ALD intervention (experimental group; EG) or a waiting list control group (CG), in which patients receive 6 months of SMART-ALD after a 6-months waiting period.
Primary purpose: SUPPORTIVE_CARE

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.


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

Primary outcomes:
measure: 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
timeFrame: 6 months
Secondary outcomes:
measure: 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
timeFrame: up to 12 months
measure: 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
timeFrame: up to 12 months
measure: 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
timeFrame: up to 12 months
measure: 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
timeFrame: up to 12 months
measure: 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
timeFrame: up to 12 months
measure: 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
timeFrame: up to 12 months
measure: 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
timeFrame: up to 12 months
measure: 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
timeFrame: up to 12 months
measure: 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
timeFrame: up to 12 months
Other outcomes:
Locations:
city: Leipzig
country: Germany
facility: Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
state: Saxony
city: Leipzig
country: Germany
facility: Leukodystrophy Outpatient Clinic
Study officials:
affiliation: Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
name: Wolfgang Köhler, MD
role: PRINCIPAL_INVESTIGATOR
References: