Ignite Creation Date:
2024-05-06 @ 1:40 PM
Last Modification Date:
2024-10-26 @ 1:18 PM
Study NCT ID:
NCT04089995
Status:
COMPLETED
Last Update Posted:
2020-03-17
First Post:
2019-07-16
Brief Title:
Coats Plus Syndrome and LCC Syndrome Series of 10 Pediatric Cases Review of Literature and Natural History
Sponsor:
University Hospital Limoges
Organization:
University Hospital Limoges
Study Overview
Official Title:
Coats Plus Syndrome and LCC Syndrome Series of 10 Pediatric Cases Review of Literature and Natural History
Status:
COMPLETED
Status Verified Date:
2020-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
COATS
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The description of a new series of unpublished cases as well as a comprehensive review of the literature on Coats plus syndrome will provide a more comprehensive and informed view of this disease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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None