Metabolic Evaluation of Nutrition in Rett Syndrome

Maastricht University Medical Centre (MUMC)

Status: Completed

Conditions: Rett Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT00786071

NL25356.068.08 (Other Identifier)

MEC 08-2-119

Details and patient eligibility

About

Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The pathological mechanism is barely understood. Although feeding difficulties may play a part in this, other constitutional factors as altered metabolic processes are suspected. Irregular breathing is a common clinical feature, reflecting the immaturity of the brainstem in RTT. The primary pathophysiology is a defective control mechanism of carbon dioxide exhalation that leads to chronic respiratory alkalosis or acidosis. We assume that chronic respiratory acidosis or alkalosis causes derangement of the metabolic equilibrium in RTT females with important nutritional consequences.

The aims of this pilot study are to describe the nutritional status of the RTT girls and to examine the consequences of a chronic respiratory acidosis or alkalosis on metabolic processes as a possible cause of impaired nutritional status.

Enrollment: 13 patients

Sex: Female

Ages: 2 to 20 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al, 2002));
• MECP2-mutation;
• Complete neurophysiological work-up.

Exclusion criteria

• Male gender.

Trial design

13 participants in 1 patient group

Rett syndrome girls

Description:

The study population consists of a well-defined group of Dutch RTT thirteen girls with complete clinical, molecular and neurophysiological work-up.