7004: Sjögren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers


Study Summary

For Diseases: Sjögren-Larsson syndrome (SLS)


Sjögren-Larsson syndrome (SLS) is a rare genetic disease. Patients typically exhibit dry, scaly skin (ichthyosis), intellectual disability, spasticity, seizures and a distinctive eye condition (maculopathy).

The purpose of this study is to define the clinical variation and natural history of SLS, identify the most appropriate blood, urine and skin markers that correlate with the clinical symptoms and establish a patient registry for future investigations on disease mechanism and therapy. From the information that is gathered, a national SLS patient registry will be established with the goal of developing the disease phenotype (what the condition typically looks like) and prospective studies of biochemical pathogenesis. This will assist others in improving ease of diagnosis and guiding future therapies.

About this Study

This is a natural history study that will enroll up to 50 subjects of all ages, genders and ethnic origins. A detailed clinical evaluation will be performed to determine presence and extent of disease as it involves the skin, nervous system and eyes. Extensive medical data will be gathered and this will be correlated with laboratory measures (blood, urine, etc.) to identify the most useful biomarkers for future diagnostic and therapeutic studies.

Participants will undergo extensive testing procedures during study visits. The visits will occur yearly until the age of 6, then every three years after that. Studies will include:

  • Brain magnetic resonance imaging and spectroscopy (MRI and MRS)
  • Electroencephalography (EEG)
  • Neurocognitive tests
  • Ophthalmological tests (eye exams) with retinal photographs and optical coherence tomography (OCT)
  • Skin photographs and tests of cutaneous transepidermal water loss (CTWL)
  • Laboratory tests: lipid analyses of blood, skin and urine; proteomic analysis of skin; measurements of leukocyte fatty alcohol and farnesol oxidation
  • Optional skin biopsy


You are eligible to participate if:

  • You have a confirmed diagnosis of SLS based on FALDH enzyme deficiency and/or identification of pathogenic mutations in ALDH3A2
  • You are mechanically and physically able to travel to the STAIR site for enrollment
  • You or your legal guardians provide written informed consent to participate

You are not eligible to participate if:

  • You have medical conditions that prevent travel to a STAIR site or are unable to travel for other reasons
  • You or your legal guardians are unable or unwilling to give consent to participate.
  • You will be excluded from the MRI/MRS portion of the study if you have a(n):
    • Implanted pacemaker or auto defibrillator
    • Implanted neural pacemaker
    • Cochlear implant
    • Metallic foreign body in the eye or head
    • Implanted wire or metal device that may concentrate radio frequency fields
    • History of adverse reaction to sedation or anesthesia if sedation is required
    • Current pregnancy

How to participate

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.


University of Nebraska Medical Center, Omaha
Sara M. Jones
Clinical Study Project Coordinator
Phone: 402-559-1747
E-mail: saram.jones@unmc.edu


Children's Hospital of Pittsburgh of UPMC, Pittsburgh
Angela Leshinski
Study Coordinator
Phone: 412-692-5232
E-mail: Angela.Leshinski@chp.edu