An interventional study of SMART-ALD and Waiting list in X-linked Adrenoleukodystrophy, sponsored by Leipzig University Medical Center. Completed at 2 sites in Germany. Open to female participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2024-03-13.
Sponsored by Leipzig University Medical Center · Not applicable, Interventional, and Supportive care
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.
68 studies on the registry are indexed under Adrenoleukodystrophy; 19 are open to participants now.
This study's enrollment of 68 is above the median of 31 across 40 interventional studies indexed under Adrenoleukodystrophy.
Browse Adrenoleukodystrophy studies →Leipzig University Medical Center is the lead sponsor of 3 studies on the registry; 2 are open to participants now.
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Females ≥18 years at the time of consent, with proven X-ALD as defined by
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
The New York Heart Association’s four classes of how much heart failure limits physical activity.
Studies set their own limit — many outside heart failure leave out class III–IV, while heart failure studies may ask for a particular class. Check the class this study names.
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
NYHA class (heart failure)
The New York Heart Association’s four classes of how much heart failure limits physical activity.
Studies set their own limit — many outside heart failure leave out class III–IV, while heart failure studies may ask for a particular class. Check the class this study names.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Clinically significant
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants will receive 12 months of SMART-ALD intervention
Behavioral: SMART-ALD
Participants will receive 6 months of SMART-ALD after a 6-months waiting period
Behavioral: Waiting list
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.
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.
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
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
Time frame: up to 12 months
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
Time frame: up to 12 months
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
Time frame: up to 12 months
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
Time frame: up to 12 months
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
Time frame: up to 12 months
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
Time frame: up to 12 months
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
Time frame: up to 12 months
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
Time frame: up to 12 months
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
Time frame: up to 12 months
Ran from May 2022 to primary completion in Nov 2023, 17 months.
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This study is completed, as verified in Mar 2024. You cannot join it, but the record below documents what was studied.
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Leipzig University Medical Center