Skip to main content
OpenTrials
Completed

NCT Number: NCT04089995

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The description of a new series of unpublished cases, as well as a comprehensive review of the literature on Coats plus syndrome, will provide a more comprehensive and informed view of this disease.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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Coats Disease Cardiovascular Diseases Cysts Eye Diseases Neoplasms Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Retinal Diseases Retinal Telangiectasis Telangiectasis Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Hopital Kremlin Bicêtre, Le Kremlin-Bicêtre, France

Loading trial locations.

Who can participate

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Data Collection

Other

No intervention

Primary outcomes

  1. 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

    Time frame: through study completion, an average of 1 year

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

  2. 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

    Time frame: through study completion, an average of 1 year

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

  3. 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

    Time frame: through study completion, an average of 1 year

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

  4. 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

    Time frame: through study completion, an average of 1 year

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

  5. 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

    Time frame: through study completion, an average of 1 year

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

  6. 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

    Time frame: through study completion, an average of 1 year

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

  7. 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

    Time frame: through study completion, an average of 1 year

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

  8. 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

    Time frame: through study completion, an average of 1 year

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

  9. 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

    Time frame: through study completion, an average of 1 year

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

  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

    Time frame: through study completion, an average of 1 year

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

Secondary outcomes

  1. 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

    Time frame: through study completion, an average of 1 year

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

  2. 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

    Time frame: through study completion, an average of 1 year

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

  3. 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

    Time frame: through study completion, an average of 1 year

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

  4. 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

    Time frame: through study completion, an average of 1 year

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

  5. 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

    Time frame: through study completion, an average of 1 year

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

  6. 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

    Time frame: through study completion, an average of 1 year

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

  7. 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

    Time frame: through study completion, an average of 1 year

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

  8. 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

    Time frame: through study completion, an average of 1 year

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

  9. 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

    Time frame: through study completion, an average of 1 year

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

  10. 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

    Time frame: through study completion, an average of 1 year

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

  11. 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 :

    Time frame: through study completion, an average of 1 year

    Average age at first symptoms Distribution of type of first symptoms Average age at diagnostic Average age at death if applicable Average age at beginning of each organ complications (ophthalmologic, neurologic, digestive, bony, or any other) Average delay of neurological deterioration Average age

  12. Define a neuro-radiological pattern associated with Coats plus syndrome and LCC syndrome from the imaging data in the new French series

    Time frame: through study completion, an average of 1 year

    Blinded interpretation of MRI and CT scan Particular attention will be done about calcifications, white matter abnormalities and cysts : presence, brain localization Exploratory description of each brain abnormality found

    % of patients presenting each abnormality found and its precise description (brain localization in particular)

Sponsors and collaborators

Lead sponsor

University Hospital, Limoges

Other

Registry information

Acronym: COATS+

Important dates

Study start
2019
Primary completion
2019
Study completion
2019
First posted
Sep 16, 2019
Registry last updated
Mar 17, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.