Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History

NCT ID: NCT04089995

Last Updated: 2020-03-17

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 10 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2019-09-30
• Study Completion Date: 2019-12-31

Brief Summary

Coats plus syndrome is a very rare and serious disease, caused by premature telomere shortening. It is a pediatric, multi-systemic disease, the main features of which are retinal vasculopathy and neurological disorders, associated with brain calcification and leukodystrophy. Its precise genetic etiology was discovered in 2012: autosomal recessive mutation of the CTC1 gene.

Publications about this syndrome are very few, and consist only of case reports, or small series of cases. This is explained by the rarity of occurrence of this syndrome. Since 1988, 57 cases of Coats plus syndrome have been published, with case series of up to 13 patients. Only 28 cases were detailed concerning the precise clinical presentation in the literature.

The general characteristics of this syndrome are known and, in addition to the ophthalmological and neurological damage, the various publications have been able to report a digestive attack (hemorrhages), hematological damage (central cytopenias), or increased bone fragility. No treatment is currently available to cure patients.

The natural history of this disease is poorly known. However, the most accurate knowledge possible of this disease, and its natural history, is essential. It would allow an easier identification of this rare syndrome, the establishment of a management (monitoring and therapeutic) adapted, and a more accurate genetic counseling in case of need of a prenatal diagnosis.

The description of a new series of unpublished cases, as well as a comprehensive review of the literature on Coats plus syndrome, will provide a more comprehensive and informed view of this disease.

Moreover, LCC syndrome (leukoencephalopathy with calcifications and cysts) is an autosomal recessive disorder linked to a mutation in the SNORD118 gene, which has the particularity of presenting the same neurological (neuro-radiological and clinical) characteristics, but without associating the others. ophthalmological and systemic disorders. It constitutes the differential radiological diagnosis of Coats plus syndrome. In this, the collection of medical data of French pediatric cases presenting this syndrome will allow a more detailed analysis of the differences and similarities between these two syndromes.

Conditions

Coats Disease

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: RETROSPECTIVE

Study Groups

Coats + and LCC syndrome

data collection

Intervention Type: OTHER

No intervention

Interventions

data collection

No intervention

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Patient with Coats plus genetic and / or clinical Syndrome, pediatric onset
• Patients with genetic and / or clinical LCC syndrome, pediatric onset

Exclusion Criteria

• Refusal of the patient or his family (oral opposition)

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Limoges

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Hopital Kremlin Bicêtre

Le Kremlin-Bicêtre, , France

CHU de Limoges

Limoges, , France

Hospices civils de Lyon

Lyon, , France

Fondation Adolphe de ROTHSCHILD

Paris, , France

Hopital Robert Debré

Paris, , France

CHU de Rennes

Rennes, , France

Countries

France

Other Identifiers

87RI19_0032 (COATS+)

Identifier Type: -

Identifier Source: org_study_id