An observational study in Cockayne Syndrome, Type I and II, sponsored by University Hospital, Strasbourg, France. Status unknown at 1 site in France. Open to participants aged 1 Year to 17 Years. Per ClinicalTrials.gov, last updated 2021-12-01.
Sponsored by University Hospital, Strasbourg, France · Observational
Despite the natural progression of Cockayne's syndrome, affected patients also present with variable neurological and gastrointestinal damage (gastroesophageal reflux, recurrent vomiting, swallowing disorders, etc.) with varying repercussions on their growth. Acute intercurrent events such as seizures, constipation, infections can also interact with their metabolism, food intake and influence their growth. The nutritional deficit potentially involved in this growth retardation can be responsible for many manifestations such as anemia, bone fractures, fatigue, coagulation disorders responsible in total for the reduction in quality and life expectancy.
Faced with growth retardation in patients with Cockayne syndrome, medical management is difficult to establish. Is this delay part of the natural course of the pathology?
9,217 studies on the registry are indexed under Syndrome; 1,031 are open to participants now.
This study's planned enrollment of 85 is below the median of 102 across 2,209 observational studies indexed under Syndrome.
Browse Syndrome studies →University Hospital, Strasbourg, France is the lead sponsor of 966 studies on the registry; 342 are open to participants now.
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Minor patient with cockayne syndrome with molecular confirmation, treated between 01/01/1985 and 01/03/2020
Exclusion criteria:
Development of growth curves in Cockayne syndrome type 1 and type 2 from existing medical data
Time frame: Files analysed retrospectively from January 01, 1985 to March 01, 2020 will be examined]
This study is status unknown, as verified in Oct 2021. You cannot join it, but the record below documents what was studied.
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Cockayne Syndrome
University Hospital, Strasbourg, France