Growth Curves in Cockayne Syndrome Type 1 and Type 2
NCT05090917 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 85
Last updated 2021-12-01
Summary
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?
Conditions
- Cockayne Syndrome, Type I and II
Sponsors & Collaborators
-
University Hospital, Strasbourg, France
lead OTHER
Principal Investigators
-
Vincent LAUGEL, MD, PhD · Service de Pédiatrie1 - Hôpitaux Universitaires de Strasbourg
Eligibility
- Min Age
- 1 Year
- Max Age
- 17 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2020-11-01
- Primary Completion
- 2022-05-15
- Completion
- 2022-05-15
Countries
- France
Study Locations
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