Spastic paraplegia / adrenomyeloneuropathy
Conditions
Interventions
None listed
Sponsors
SwanBio Therapeutics, Ltd
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: 1. Male adults aged >=18 years 2. Diagnosed with ALD based on elevated VLCFA assay and pedigree analysis 3. Clinical evidence of spinal cord involvement with EDSS score between 1 and 6.5. The number of patients with normal pyramidal function on the Functional System Score (FSS) of the EDSS scale, or EDSS >=5.5 will be limited to 10 (ten) for each criterion. 4. The participant provided written informed consent prior to any study procedures being performed
Exclusion criteria
Exclusion criteria: 1. Diagnosed with cerebral inflammatory disease. Cerebral inflammatory disease is diagnosed with the presence of inflammatory (Gadolinium-enhancing) lesion(s) on a brain MRI. Note: Absence of cerebral inflammatory disease will be confirmed at Visit 1 with review of a MRI scan or report performed within 12 months prior to the Baseline Visit. 2. In AMN participants, pathological changes identified on a brain MRI except for the abnormalities that can be observed in AMN participants. 3. Any conditions that make it impossible to perform MRI studies (including allergy to Gadolinium or contrast agents). 4. Unstable, clinically significant neurologic (other than the disease being studied), psychiatric, cardiovascular, ophthalmologic, pulmonary, hepatic, renal, metabolic, gastrointestinal, urologic, immunologic, hematopoietic, or endocrine disease (other than adrenal insufficiency) or other abnormality, which may impact the ability to participate in the study or that may potentially confound the study results. It is the responsibility of the Investigator to assess the clinical significance; however, consultation with the Medical Monitor may be warranted. 5. Participant who, in the opinion of the Investigator, has any other medical or psychological condition or social circumstances which would impair their ability to participate reliably in the assessments, or who may increase the risk to themselves or others by participating. 6. The participant is employed by SwanBio Therapeutics, Contract Research Organization (CRO), or trial site (permanent, temporary contract worker, or designee responsible for the conduct of the study) or is an immediate family (e.g. spouse, parent, child, sibling) member of a SwanBio Therapeutics, CRO, or trial site employee.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Retrospective disease-related medical history will be collected. To assess disease progression, disease-related outcomes will be collected and assessments will include the following: physical examination (including height and weight), neurological examination, EDSS, Severity Score System for Progressive Myelopathy (SSPROM), postural body sway, miniBESTest, Timed Up and Go (TUG), 2 Minute Walk Test (2MWT), 6 Minute Walk Test (6MWT), 5Timest Sit to Stand Test (5XSST), Instrumented Gait Analysis, and overall activity and sleep data from use of a CentrePoint Insight watch. If a clinical MRI was performed during the study, the report will be collected. Patient-reported Outcomes (PRO) assessments will include Urinary and Bowel Symptoms in ALD/AMN, Multiple Sclerosis Quality of Life-54 (MSQoL-54), Multiple Sclerosis Walking Scale-12 (MSWS-12), and Activities-specific Balance Confidence Scale (ABC). For the Electrophysiology Sub-study, assessments will include a nerve conduction study (NCS). Safety assessments will include the collection of concomitant medications, concomitant therapies, and study procedure-related serious adverse events (SAEs) and adverse events (AEs). | — |
Countries
Netherlands
Outcome results
None listed