Growth Curves in Cockayne Syndrome Type 1 and Type 2 (NCT05090917) | Clinical Trial Compass
UnknownNot Applicable
Growth Curves in Cockayne Syndrome Type 1 and Type 2
France85 participantsStarted 2020-11-01
Plain-language 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?
Who can participate
Age range
1 Year – 17 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria:
* Minor patient
* Cockayne syndrome with molecular confirmation, treated between 01/01/1985 and 01/03/2020
* Collection of at least one growth data (height, weight, head circumference) for a given age
* Clinic compatible with type 1 or 2 Cockayne syndrome
* Holder of parental authority not opposing, after information, the reuse of their child's medical data for the purposes of this scientific research.
Exclusion criteria:
* Refusal to participate in the study.
* Lack of molecular confirmation of Cockayne syndrome
* Lack of growth data for a given age.
* Clinic not compatible with type 1 or 2 Cockayne syndrome. Exclusion of type 3 Cockayne syndromes, trichothiodystrophy and xeroderma-pigmentosum.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Development of growth curves in Cockayne syndrome type 1 and type 2 from existing medical data
Timeframe: Files analysed retrospectively from January 01, 1985 to March 01, 2020 will be examined]