Clinical trial NCT04089995: Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History
Official title: Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Coats Disease
Keywords: Coats
leukencephalopathy with calcifications and cysts
Lead sponsor: University Hospital, Limoges
Sponsor class: OTHER
First posted: 2019-09-16
Enrollment: 10
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patient with Coats plus genetic and / or clinical Syndrome, pediatric onset and Patients with genetic and / or clinical LCC syndrome, pediatric onset

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The description of a new series of unpublished cases, as well as a comprehensive review of the literature on Coats plus syndrome, will provide a more comprehensive and informed view of this disease.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


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)

Primary outcomes:
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
Secondary outcomes:
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome
timeFrame: through study completion, an average of 1 year
measure: Estimation of the natural history of the disease for morbidity and mortality from the data of the new case series and case data from the literature :
timeFrame: through study completion, an average of 1 year
measure: Define a neuro-radiological pattern associated with Coats plus syndrome and LCC syndrome from the imaging data in the new French series
timeFrame: through study completion, an average of 1 year
Other outcomes:
Locations:
city: Le Kremlin-Bicêtre
country: France
facility: Hopital Kremlin Bicêtre
city: Limoges
country: France
facility: CHU de Limoges
city: Lyon
country: France
facility: Hospices civils de Lyon
city: Paris
country: France
facility: Fondation Adolphe de ROTHSCHILD
city: Paris
country: France
facility: Hopital Robert Debré
city: Rennes
country: France
facility: CHU de Rennes
Study officials:
References: