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

NCT04089995 | Completed

• 1 other identifier: 87RI19_0032 (COATS+)
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 6

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 The description of a new series of unpublished cases, as well as a comprehensive review of the literature on Coats plus syndrome, will provide a more comprehensive and informed view of this disease.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

Keywords

Coats; leukencephalopathy with calcifications and cysts

Outcome Measures

Primary Outcomes (10)

• 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

  percentage of patients with neurological complication : seizures Exploratory description for each patient

  through study completion, an average of 1 year

• 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

  percentage of patients with neurological complication : focal clinical abnormality Exploratory description for each patient

  through study completion, an average of 1 year

• 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

  percentage of patients with neurological complication : cognitive trouble. Exploratory description for each patient

  through study completion, an average of 1 year

• 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

  percentage of patients with abnormal brain imaging : exploratory description for each patient

  through study completion, an average of 1 year

• 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

  percentage of patients with digestive complication : bleeding Exploratory description for each patient

  through study completion, an average of 1 year

• 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

  percentage of patients with digestive complication :hepatic disease Exploratory description for each patient

  through study completion, an average of 1 year

• 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

  percentage of patients with bone complication : osteoporosis Exploratory description for each patient

  through study completion, an average of 1 year

• 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

  Percentage of patients with ophthalmologic complication : Coats disease Exploratory description for each patient

  through study completion, an average of 1 year

• 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

  Percentage of patients with hair or nails abnormality Exploratory description for each patient

  through study completion, an average of 1 year

• 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

  Percentage of patients with intra uterine growth retardation or neonatal trouble : exploratory description for each patient Any disease or complication in the medical history

  through study completion, an average of 1 year

Secondary Outcomes (12)

• 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

  through study completion, an average of 1 year

• 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

  through study completion, an average of 1 year

• 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

  through study completion, an average of 1 year

• 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

  through study completion, an average of 1 year

• 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

  through study completion, an average of 1 year

Study Arms (1)

Coats + and LCC syndrome

Other: data collection

Interventions

data collection OTHER

No intervention

Coats + and LCC syndrome

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Limoges: lead

Study Sites (6)

Hopital Kremlin Bicêtre

Le Kremlin-Bicêtre, 94270, France

Location

CHU de Limoges

Limoges, 87042, France

Location

Hospices civils de Lyon

Lyon, 69004, France

Location

Fondation Adolphe de ROTHSCHILD

Paris, 75019, France

Location

Hopital Robert Debré

Paris, 75019, France

Location

CHU de Rennes

Rennes, 35033, France

Location

MeSH Terms

Conditions

Retinal Telangiectasis; Cysts

Interventions

Data Collection

Condition Hierarchy (Ancestors)

Retinal Diseases; Eye Diseases; Telangiectasis; Vascular Diseases; Cardiovascular Diseases; Neoplasms; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Design

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

Study Record Dates

• First Submitted: July 16, 2019
• First Posted: September 16, 2019
• Study Start: September 30, 2019
• Primary Completion: December 31, 2019
• Study Completion: December 31, 2019
• Last Updated: March 17, 2020

Record last verified: 2020-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (6)