Coats DiseaseCOATS+NCT04089995

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

An observational study of Coats Disease, run by University Hospital, Limoges at 6 sites in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Trial 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. Read more about this study

Who is it for?: Any age
Conditions the study is for: Coats Disease
What is being tested?: data collection
How many people: 10 participants
Where: 6 sitesFrance
Study dates: 30 Sep 2019to 31 Dec 2019
Phase: Observational
Are there results?: None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages Any age
All sexes
Child, Adult, Older adult

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

Who may be able to join

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

Who cannot join

Refusal of the patient or his family (oral opposition)

Trial locations and contacts

6 sites in 1 country.

City, postcode or hospital

6 sites in 1 country

France6 sites

Hopital Kremlin Bicêtre
Le Kremlin-Bicêtre, 94270
CHU de Limoges
Limoges, 87042
Hospices civils de Lyon
Lyon, 69004
Fondation Adolphe de ROTHSCHILD
Paris, 75019
Hopital Robert Debré
Paris, 75019
CHU de Rennes
Rennes, 35033

Other trials in France

About this study

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
Being tested: data collection
Keywords: Coats, leukencephalopathy with calcifications and cysts
Medical subject headings: Retinal Telangiectasis, Cysts

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

data collectionOther
No intervention

Study groups in NCT04089995
Study group	Role	What they receive
Coats + and LCC syndrome		Not described Receives: Other: data collection

What is being measured

The primary outcome is the main question the study is designed to answer.

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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
percentage of patients with neurological complication : seizures Exploratory description for each patient
Measured: 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
percentage of patients with neurological complication : focal clinical abnormality Exploratory description for each patient
Measured: 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
percentage of patients with neurological complication : cognitive trouble. Exploratory description for each patient
Measured: 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
percentage of patients with abnormal brain imaging : exploratory description for each patient
Measured: 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
percentage of patients with digestive complication : bleeding Exploratory description for each patient
Measured: 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
percentage of patients with digestive complication :hepatic disease Exploratory description for each patient
Measured: 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
percentage of patients with bone complication : osteoporosis Exploratory description for each patient
Measured: 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
Percentage of patients with ophthalmologic complication : Coats disease Exploratory description for each patient
Measured: 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
Percentage of patients with hair or nails abnormality Exploratory description for each patient
Measured: 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
Percentage of patients with intra uterine growth retardation or neonatal trouble : exploratory description for each patient Any disease or complication in the medical history
Measured: through study completion, an average of 1 year
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 :
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
Measured: through study completion, an average of 1 year
Define a neuro-radiological pattern associated with Coats plus syndrome and LCC syndrome from the imaging data in the new French series
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)
Measured: through study completion, an average of 1 year

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

30 Sep 201931 Dec 2019

First posted16 Sep 2019
Study start30 Sep 2019
Primary completion31 Dec 2019
Study completion31 Dec 2019

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for Coats DiseaseStudies of the same condition, open and under way.
More trials run by University Hospital, LimogesThe sponsor's other registered studies.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Case only
Time perspective: Retrospective
Enrolment: 10 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT04089995
Sponsor's protocol ID: 87RI19_0032 (COATS+)
Acronym: COATS+
Status last verified: Mar 2020
First submitted: 16 Jul 2019
Last updated: 17 Mar 2020
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: No

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

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All Coats Disease trials

Study at a glance

From the registry record, last updated by the sponsor on 17 Mar 2020. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History
ClinicalTrials.gov ID: NCT04089995
Acronym / sponsor ID: COATS+ / 87RI19_0032 (COATS+)
Conditions: Coats Disease
Keywords: Coats, leukencephalopathy with calcifications and cysts
Study type: Observational
Recruitment status: Completed
Enrolment: 10 participants (actual)
Lead sponsor: University Hospital, LimogesUniversity, hospital or other
Study start: 30 Sep 2019 (actual)
Primary completion: 31 Dec 2019 (actual)
Study completion: 31 Dec 2019 (actual)
First posted: 16 Sep 2019 (actual)
Results: Not posted in the source record

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

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.

Study design

Observational model: Case only
Time perspective: Retrospective
Number of arms: 1

Arm	Type	Receives
Coats + and LCC syndrome	–	Other: data collection

Who may qualify

Sex: All
Age groups: Child, Adult, Older adult
Study population: Patient with Coats plus genetic and / or clinical Syndrome, pediatric onset and Patients with genetic and / or clinical LCC syndrome, pediatric onset

Key inclusion criteria (2 listed)

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

Key exclusion criteria (1 listed)

Refusal of the patient or his family (oral opposition)

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
data collectionNo intervention	Other	Coats + and LCC syndrome

Primary outcome

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
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
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
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
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
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
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
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
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
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

12 secondary outcomes

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
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
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
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
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
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
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
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
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
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
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
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

Results and safety

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2020.
Individual participant dataSharing planned: No

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Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

The record lists no contact. Use the official record to reach the sponsor.

6 sites in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of Coats Disease, run by University Hospital, Limoges at 6 sites in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 17 Mar 2020. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 6 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome 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 (time frame: through study completion, an average of 1 year). The study lists 10 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04089995.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Mar 2020.