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

Related Clinical Trial
Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy and Metachromatic Leukodystrophy SMART-ALD – A New Lifestyle Intervention to Improve Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD) Quality of Life in Women With X-linked Adrenoleukodystrophy A Clinical Study in Male Pediatric Patients With Cerebral X-linked Adrenoleukodystrophy (Cald) to Assess the Effects of MIN-102 Treatment on Disease Progression Prior to Human Stem Cell Transplant (HSCT) Plasma Exchange With Albumin in AMN Patients Stem Cell Transplant for Inborn Errors of Metabolism Human Placental-Derived Stem Cell Transplantation Precision Exercise in Children With Malignant Hemopathies Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy MD1003-AMN MD1003 in Adrenomyeloneuropathy A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Early Diagnosis Of Childhood Cerebral ALD Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children HSCT for High Risk Inherited Inborn Errors Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) A Phase III Trial of Lorenzo’s Oil in Adrenomyeloneuropathy Lentiviral Gene Therapy for X-ALD MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Newborn Screening for Adrenoleukodystrophy A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Expanded Access for Lorenzo’s Oil (GTO/GTE) in Adrenoleukodystrophy Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy

Brief Title

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)

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.

Study Type


Primary Outcome

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

Secondary Outcome

 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


X-linked Adrenoleukodystrophy



Study Arms / Comparison Groups

 SMART-ALD - Experimental group (EG)
Description:  Participants will receive 12 months of SMART-ALD intervention


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

June 2021

Completion Date

May 2023

Primary Completion Date

May 2023

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

          -  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




18 Years - N/A

Accepts Healthy Volunteers



Wolfgang Köhler, MD, +49-341-9720086, [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID

ELA FOA2020-002

Responsible Party


Study Sponsor

Leipzig University Medical Center


 European Leukodystrophy Association

Study Sponsor

Wolfgang Köhler, MD, Principal Investigator, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany

Verification Date

December 2020