Sjögren-Larsson Syndrome: Clinical and Biochemical Studies

Sjögren-Larsson Syndrome: Clinical and Biochemical Studies - Sjögren-Larsson Syndrome

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON45720

Enrollment

Registered

2017-02-08

Start date

2017-04-28

Completion date

Unknown

Last updated

2024-06-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Sjögren-Larsson Syndrome

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: - genetically confirmed SLS patient - subject and/or his parents is/are able and willing to sign the Informed consent before screening evaluations

Exclusion criteria

Exclusion criteria: - Not genetically confirmed SLS patient - Subject and/or his parents is/are not able or willing to sign the Informed Consent before screening evaluations.

Design outcomes

Primary

Measure	Time frame
1. Biochemical study - First we aim to do targeted metabolomics on plasma samples. We aim to measure chlorinated lipid species and other targeted lipid analyses. For this targeted metabolomics gas chromatography mass spectrometry will be used. This laboratory research will take place at the Translational Metabolic Laboratory (TML) at the Radboudumc Nijmegen, in collaboration with the laboratory of professor Ford in the United States of America, the PI of the research group who first described this metabolic route. - Next to this targeted metabolomics, we also aim to further examine the abnormal metabolic routes in SLS patients by untargeted metabolomics. Liquid chromatography in combination with Qtof mass spectrometry will be applied to the body fluids of SLS patients. Depending on the results of this screening, we might also use (already stored and cultured) skin fibroblasts for further research. 2. Ophthalmological tests With ophthalmologic tests we want to combine normal control appointments with some extra research to learn more about the structure of the retina and the abnormalities in the retina. With OCT-A we want to learn more about the vascularisation of the retina. OCT-A is one of the newest techniques to visualize the retinal vasculature. This is not been studied in SLS patients before as far as we know. We will examine all patients and then compare results with normal population. Goal of this ophthalmologic study is to get better insight in the ophthalmologic abnormalities, their course over time and the pathomechanism. 3. Questionnaire A questionnaire will be sent by email, with questions about daily functioning and quality of life.	—

Measure

Time frame

1. Biochemical study - First we aim to do targeted metabolomics on plasma samples. We aim to measure chlorinated lipid species and other targeted lipid analyses. For this targeted metabolomics gas chromatography mass spectrometry will be used. This laboratory research will take place at the Translational Metabolic Laboratory (TML) at the Radboudumc Nijmegen, in collaboration with the laboratory of professor Ford in the United States of America, the PI of the research group who first described this metabolic route. - Next to this targeted metabolomics, we also aim to further examine the abnormal metabolic routes in SLS patients by untargeted metabolomics. Liquid chromatography in combination with Qtof mass spectrometry will be applied to the body fluids of SLS patients. Depending on the results of this screening, we might also use (already stored and cultured) skin fibroblasts for further research. 2. Ophthalmological tests With ophthalmologic tests we want to combine normal control appointments with some extra research to learn more about the structure of the retina and the abnormalities in the retina. With OCT-A we want to learn more about the vascularisation of the retina. OCT-A is one of the newest techniques to visualize the retinal vasculature. This is not been studied in SLS patients before as far as we know. We will examine all patients and then compare results with normal population. Goal of this ophthalmologic study is to get better insight in the ophthalmologic abnormalities, their course over time and the pathomechanism. 3. Questionnaire A questionnaire will be sent by email, with questions about daily functioning and quality of life.

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Countries

Netherlands

Outcome results