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X-linked AdrenoleukodystrophyNCT04687007

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

A study testing SMART-ALD and Waiting list in people with X-linked Adrenoleukodystrophy, run by Leipzig University Medical Center at 2 sites in Germany.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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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. Read more about this study

Who is it for?
Ages 18 years and older, women only
Conditions the study is for
X-linked Adrenoleukodystrophy
What is being tested?
SMART-ALD and Waiting list
Could I receive a placebo?
No, everyone receives an active treatment
How many people
68 participants
Where
2 sitesGermany
Study dates
20 May 2022to 1 Feb 2024
Phase
Interventional
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • Women only
  • No healthy volunteers
  • Adult, Older adult

Who may be able to join

  • 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
  • Elevated VLCFA values, or
  • Mutation in ABCD1 gene
  • Neurological symptoms as defined by Adult ALD Clinical Score (AACS) ≥ 2

Who cannot join

  • 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

Trial locations and contacts

2 sites in 1 country.

Germany2 sites

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

    Leipzig, Saxony, 04103

  • Leukodystrophy Outpatient Clinic

    Leipzig, 04275

Other trials in Germany

About this study

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)

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.

Being tested
SMART-ALD, Waiting list
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
Medical subject headings
Adrenoleukodystrophy, Genetic Diseases, X-Linked, Peroxisomal Disorders, Central Nervous System Diseases

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • SMART-ALDBehavioural

    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 listBehavioural

    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.

Study groups in NCT04687007
Study groupRoleWhat they receive
SMART-ALD - Experimental group (EG)ExperimentalParticipants will receive 12 months of SMART-ALD intervention
Receives: Behavioral: SMART-ALD
Waiting List - Control group (CG)OtherParticipants will receive 6 months of SMART-ALD after a 6-months waiting period
Receives: Behavioral: Waiting list

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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

    Measured: 6 months

Secondary outcomes (9)

  1. 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

    Measured: up to 12 months

  2. 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

    Measured: up to 12 months

  3. 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

    Measured: up to 12 months

  4. 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

    Measured: up to 12 months

  5. 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

    Measured: up to 12 months

  6. 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

    Measured: up to 12 months

  7. 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

    Measured: up to 12 months

  8. 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

    Measured: up to 12 months

  9. 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

    Measured: up to 12 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted29 Dec 2020
  2. Study start20 May 2022
  3. Primary completion1 Nov 2023
  4. Study completion1 Feb 2024

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Primary purpose
Supportive care
Allocation
Randomised
Intervention model
Parallel groups
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.
Masking
None (open label)
Enrolment
68 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04687007
Sponsor's protocol ID
ELA FOA2020-002
Status last verified
Mar 2024
First submitted
11 Dec 2020
Last updated
13 Mar 2024
Results posted
No
FDA-regulated drug
No
FDA-regulated device
No

Publications

  • 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.

    PubMed 41030609

Questions about this trial

What is this clinical trial studying?

A study testing SMART-ALD and Waiting list in people with X-linked Adrenoleukodystrophy, run by Leipzig University Medical Center at 2 sites in Germany.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 13 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 2 sites in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome 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 (time frame: 6 months). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04687007, which also lists 1 linked publication.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Mar 2024.

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