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Sjögren-Larsson Syndrome: clinical and biochemical studies


- candidate number26657
- NTR NumberNTR6277
- ISRCTNISRCTN no longer applicable
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR8-feb-2017
- Secondary IDsNL58544.091.16 2016-2828
- Public TitleSjögren-Larsson Syndrome: clinical and biochemical studies
- Scientific TitleSjögren-Larsson Syndrome: clinical and biochemical studies
- ACRONYMSjögren-Larsson Syndrome
- hypothesis
- Healt Condition(s) or Problem(s) studiedSjögren-Larsson Syndrome
- Inclusion criteriagenetically confirmed SLS patient
- Exclusion criterianot genetically confirmed SLS patient
- mec approval receivedyes
- multicenter trialno
- randomisedno
- group[default]
- TypeSingle arm
- Studytypeobservational
- planned startdate 15-feb-2017
- planned closingdate15-feb-2019
- Target number of participants25
- InterventionsObservational cohort study, ophthalmologic and metabolic studies
- Primary outcome- To find out more about biochemical abnormalities in SLS patients using targeted and untargeted metabolomics
- To study neuro-retinal changes over time to learn more about involved neurons and pathomechanism of ophthalmologic abnormalities in SLS patients
- Secondary outcomeN/A
- TimepointsOne-off measuring moment where patients come to the ophtalmology policlinic in the Radboud UMC for eye examination. On the same day blood and urine will be collected for metabolic research.
- Trial web site
- statusplanned
- CONTACT FOR PUBLIC QUERIESDrs. P. Staps
- CONTACT for SCIENTIFIC QUERIESProf. dr. M. Willemsen
- Sponsor/Initiator Radboud University Medical Center Nijmegen
- Funding
(Source(s) of Monetary or Material Support)
- Publications
- Brief summaryRationale: Sjögren-Larsson Syndrome (SLS) is an autosomal recessive inherited disorder, with a clinical triad of intellectual disability, spastic di- or tetraplegia and ichthyosis. This syndrome is caused by a deficient microsomal fatty aldehyde dehydrogenase (FALDH). FALDH is part of the fatty alchohol nicotinamide adenine dinucleotide (NAD) oxidoreductase complex (FAO) and catalyzes oxidation of many different medium- and long-chain fatty aldehydes into fatty acids.
Deficiency results in the accumulation of fatty aldehydes and fatty alcohols in body fluids and tissues, which is considered the principal causative mechanism leading to the overall clinical phenotype of SLS. The FALDH gene, named ALDH3A2, is located on gene 17p11.2, and mutations in this gene have been identified in SLS patients. Our research group already did several studies in this patient group. With new techniques we would like to find out more about the biochemical abnormalities. Further elucidation of the underlying (biochemical) mechanisms of disease, especially the identification of affected pathways and involved lipid species, potentially leads to the development of novel therapeutic strategies. With new ophthalmologic diagnostic techniques, we aim to get a completer image of ophthalmologic abnormalities in this group.
Objectives:
1. To further unravel biochemical abnormalities in SLS patients
2. To study neuro-retinal changes over time to learn more about involved neurons and pathomechanism of ophthalmologic abnormalities in SLS patients

Study design: Monocenter, interdisciplinary, prospectivecross-sectional, observational cohort study

Study population: Patients with genetically proven Sjögren-Larsson Syndrome in the Netherlands

Main study parameters/endpoints:
1. With targeted and untargeted metabolomics, we aim to determine which lipids accumulate in SLS patients.
2. With application of novel non-invasive imaging techniques, combined with normal ophthalmologic outpatient visits, we aim to learn more about the structure of the retina and the abnormalities in the retina.
- Main changes (audit trail)
- RECORD8-feb-2017 - 7-mei-2017


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