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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04089995
Recruitment Status : Recruiting
First Posted : September 16, 2019
Last Update Posted : October 24, 2019
Sponsor:
Information provided by (Responsible Party):
University Hospital, Limoges

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The description of a new series of unpublished cases, as well as a comprehensive review of the literature on Coats plus syndrome, will provide a more comprehensive and informed view of this disease.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


Condition or disease Intervention/treatment
Coats Disease Other: data collection

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Study Type : Observational
Estimated Enrollment : 10 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History
Actual Study Start Date : September 30, 2019
Estimated Primary Completion Date : December 31, 2019
Estimated Study Completion Date : December 31, 2019

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
Coats + and LCC syndrome Other: data collection
No intervention




Primary Outcome Measures :
  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 Outcome Measures :
  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)




Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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
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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04089995


Contacts
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Contact: Rachel FROGET, MD 555056254 ext +33 rachel.froget@chu-limoges.fr

Locations
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France
Hopital Kremlin Bicêtre Recruiting
Le Kremlin-Bicêtre, France, 94270
Contact: Christian Denier, MD         
Principal Investigator: Christian Denier, MD         
CHU de Limoges Recruiting
Limoges, France, 87042
Contact: Rachel Froget, MD       rachel.froget@chu-limoges.fr   
Principal Investigator: Rachel Froget, MD         
Hospices civils de Lyon Recruiting
Lyon, France, 69004
Contact: Kerstin Hartig-Lavie, MD         
Principal Investigator: Kerstin Hartig-Lavie, MD         
Fondation Adolphe de ROTHSCHILD Recruiting
Paris, France, 75019
Contact: Christine Bulteau, MD         
Principal Investigator: Christine Bulteau, MD         
Hopital Robert Debré Recruiting
Paris, France, 75019
Contact: Odile Boespflug-Tangy, MD         
Principal Investigator: Odile Boespflug-Tangy, MD         
CHU de Rennes Recruiting
Rennes, France, 35033
Contact: Laurent Pasquier, MD         
Principal Investigator: Laurent Pasquier, MD         
Sponsors and Collaborators
University Hospital, Limoges

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Responsible Party: University Hospital, Limoges
ClinicalTrials.gov Identifier: NCT04089995    
Other Study ID Numbers: 87RI19_0032 (COATS+)
First Posted: September 16, 2019    Key Record Dates
Last Update Posted: October 24, 2019
Last Verified: October 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Limoges:
Coats
leukencephalopathy with calcifications and cysts
Additional relevant MeSH terms:
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Retinal Telangiectasis
Retinal Diseases
Eye Diseases
Telangiectasis
Vascular Diseases
Cardiovascular Diseases