Growth Curves in Cockayne Syndrome Type 1 and Type 2

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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05090917

Acronym

Curves-CS

Enrollment

Registered

2021-10-25

Start date

2020-11-01

Completion date

2022-05-15

Last updated

2021-12-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cockayne Syndrome, Type I and II

Keywords

Cockayne Syndrome, Cockayne Syndrome, Type I and II, Growth curves

Brief 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?

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

1 Years to 17 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame
Development of growth curves in Cockayne syndrome type 1 and type 2 from existing medical data	Files analysed retrospectively from January 01, 1985 to March 01, 2020 will be examined]

Countries

France

Contacts

Primary ContactVincent LAUGEL, MD, PhD

vincent.laugel@chru-strasbourg.fr33 3 88 12 77 43

Backup ContactSaïd CHAYER, PhD, HDR

said.chayer@chru-strasbourg.fr

Outcome results