Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome

NCT01481662 | Unknown

• 2 other identifiers: P081261AOM09039
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

SUSAC's Syndrome (SS) is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions. Since the first description of SS in 1979, hundreds of patients with SS, mostly young women, have been reported. However, comprehensive epidemiological, clinical and etiological features of SS have never been specifically addressed so far. The objective of this study is to characterize the epidemiological, clinical, and etiological features of SUSAC's Syndrome. In this aim, the investigators will constitute a national clinical-based cohort including all SS cases retrospectively reported in France since the last 20 years and all new cases prospectively observed. French Society of Neurology, Ophthalmology and Internal Medicine will be asked to collaborate. Every case will be reviewed by an expert comity of internists, neurologists and neuroradiologists to validate the diagnosis. The exhaustive and systematic analysis of each case will help to better define different aspects of the disease such as the incidence and prevalence, the clinical presentation, the diagnostic modalities and the impact of treatments. Diffusion tensor magnetic resonance imaging of the brain will be obtained to more carefully study the cerebral microvasculopathy of the disease. Serum, cerebrospinal fluid, and DNA samples from each patient will also be collected to study potential autoimmune, thrombotic and infectious markers.

Conditions

SUSAC's Syndrome; Encephalopathy; Hearing Loss; Retinal Artery Branch Occlusions

Keywords

SUSAC's Syndrome; encephalopathy; hearing loss; retinal artery branch occlusions; Diffusion tensor MRI

Outcome Measures

Primary Outcomes (1)

• To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome

  To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome

  1 year

Secondary Outcomes (7)

• diffusion MRI

  12 months

• serum sample

  day 1

• cerebrospinal fluid sample

  day 1

• DNA sample

  day 1

• RNA sample

  day 1

Study Arms (2)

retrospective

cases retrospectively reported the last 20 years

Prospective

Diffusion tensor magnetic resonance imaging of the brain: new cases prospectively reported

Device: Diffusion tensor magnetic resonance imaging of the brain

Interventions

Diffusion tensor magnetic resonance imaging of the brain DEVICE

Diffusion tensor magnetic resonance imaging of the brain will be obtained to more carefully study the cerebral microvasculopathy of the disease.

Also known as: Diffusion tensor MRI

Prospective

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

SUSAC's Syndrome (SS) is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions. Hundreds of patients with SS, mostly young women, have been reported.

You may qualify if:

• Age older than 18
• Two clinical features of the triad present: encephalopathy, sensorineural hearing loss assessed by audiogram, retinal artery occlusion assessed by fundoscopy or fluorescein retinal angiography.
• Written informed consent provided. In case of subjects unable to give a written informed consent because of encephalopathy associated with the disease, a written statement of non-opposition should be signed by a relative. This non-opposition statement should be then confirmed by the subject as soon as possible.
• Realization of a medical examination beforehand

You may not qualify if:

• Alternative diagnosis: multiple sclerosis, mitochondriopathy, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), primary brain tumor, Lyme disease.
• Not membership in a national insurance scheme

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hospital BICHAT

Paris, 75018, France

RECRUITING

Related Publications (5)

• Gaudemer A, Henry-Feugeas MC, Peyre M, Kachaner A, Klein I, Khalil A, Papo T, Sacre K. Brain microstructural damage through serial diffusion tensor imaging and outcomes in Susac syndrome: A prospective cohort study. Eur J Neurol. 2025 Jan;32(1):e70002. doi: 10.1111/ene.70002.

  PMID: 39686647 DERIVED

• Kachaner A, Mageau A, Goulenok T, Francois C, Delory N, Chauveheid MP, Laouenan C, Doan S, Halimi C, Klein I, Papo T, Sacre K; French Susac Study Group. Immunosuppressive agents or intravenous immunoglobulin in addition to glucocorticoids in the treatment of Susac syndrome: a French national cohort study. Lancet Rheumatol. 2025 Jan;7(1):e15-e20. doi: 10.1016/S2665-9913(24)00220-0. Epub 2024 Sep 18.

  PMID: 39305913 DERIVED

• Scheifer C, Henry Feugeas MC, Roriz M, Cohen Aubart F, Doan S, Jouvent E, Klein I, Machado C, Rouzaud D, Papo T, Sacre K; French Susac Study Group. Brain magnetic resonance imaging lesion load at diagnosis, severity at onset and outcomes in Susac syndrome: A prospective cohort study. Eur J Neurol. 2022 Jan;29(1):121-129. doi: 10.1111/ene.15062. Epub 2021 Aug 23.

  PMID: 34382290 DERIVED

• David C, Papo T, Ba I, Ollivier E, Boileau C, Dieude P, Keren B, Kannengiesser C, Sacre K. Hunting for the genetic basis of Susac syndrome. Eur J Neurol. 2021 Jul;28(7):e57-e59. doi: 10.1111/ene.14836. Epub 2021 Apr 7. No abstract available.

  PMID: 33773011 DERIVED

• Machado S, Jouvent E, Klein I, De Guio F, Machado C, Cohen-Aubart F, Sacre K, Papo T. Cognitive dysfunction and brain atrophy in Susac syndrome. J Neurol. 2020 Apr;267(4):994-1003. doi: 10.1007/s00415-019-09664-8. Epub 2019 Dec 11.

  PMID: 31828475 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

* serum sample * cerebrospinal fluid sample * DNA sample * RNA sample * Peripheral Blood Mononuclear Cell sample

MeSH Terms

Conditions

Susac Syndrome; Brain Diseases; Hearing Loss

Interventions

Diffusion Tensor Imaging

Condition Hierarchy (Ancestors)

Ear Diseases; Otorhinolaryngologic Diseases; Cerebrovascular Disorders; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Retinal Artery Occlusion; Retinal Diseases; Eye Diseases; Vision Disorders; Arterial Occlusive Diseases; Vascular Diseases; Cardiovascular Diseases; Eye Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Hearing Disorders; Sensation Disorders

Intervention Hierarchy (Ancestors)

Neuroimaging; Diagnostic Imaging; Diagnostic Techniques and Procedures; Diagnosis; Diffusion Magnetic Resonance Imaging; Magnetic Resonance Imaging; Tomography; Diagnostic Techniques, Neurological; Investigative Techniques

Study Officials

• Thomas PAPO, Pr

  APHP

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Thomas PAPO, Pr

CONTACT

(1)40258705; thomas.papo@bch.aphp.fr

Fleur Cohen-Aubart, Dr

CONTACT

(6) 67896079; fleuraubart@yahoo.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 22, 2011
• First Posted: November 29, 2011
• Study Start: November 1, 2011
• Primary Completion: May 1, 2020
• Study Completion: May 1, 2021
• Last Updated: December 21, 2017

Record last verified: 2017-06

Locations

FR (1)