NCT05090917

Growth Curves in Cockayne Syndrome Type 1 and Type 2

Development of Growth Curves in Cockayne Syndrome Type 1 and Type 2

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 85 (estimated)
• Sponsor: University Hospital, Strasbourg, France · Academic / Other
• Sex: All
• Age: 1 Year – 17 Years
• Healthy volunteers: Not accepted

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

Timeline

• Start date: 2020-11-01
• Primary completion: 2022-05-15
• Completion: 2022-05-15
• First posted: 2021-10-25
• Last updated: 2021-12-01

Locations

1 site across 1 country: France