Coats Disease Clinical Trial
Official title:
Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History
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The description of a new series of unpublished cases, as well as a comprehensive review of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.
n/a
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Suspended |
NCT03940690 -
Interest of Intravitreal Injections of Anti-VEGF as Initial and Adjuvant Treatment in Coats Disease
|
Phase 3 | |
| Completed |
NCT04310631 -
Evaluation of Retinal and Vascular Features in Coats Disease After Intravitreal Injections of Ranibizumab
|