Clinical trial NCT00786071: Metabolic Evaluation of Nutrition in Rett Syndrome
Official title: A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Rett Syndrome
Keywords: Rett syndrome.
Nutritional status.
Metabolic alterations.
Lead sponsor: Maastricht University Medical Center
Sponsor class: OTHER
First posted: 2008-11-05
Enrollment: 13
Sex: FEMALE
Minimum age (years): 2
Maximum age (years): 20
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population consists of a well-defined group of thirteen Dutch RTT girls with complete clinical, molecular and neurophysiological work-up.

Brief summary: 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.


Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* Male gender.

Primary outcomes:
measure: 1. What is the nutritional status of the RTT girls? 2. Can metabolic alterations caused by chronic respiratory acidosis or alkalosis be detected?
timeFrame: Once.
Secondary outcomes:
Other outcomes:
Locations:
city: Maastricht
country: Netherlands
facility: University Hospital Maastricht
state: Limburg
Study officials:
affiliation: Maastricht University Medical Center
name: Leopold MG Curfs, Professor
role: STUDY_DIRECTOR
affiliation: Maastricht University Medical Center
name: Eric EJ Smeets, MD, PhD
role: STUDY_DIRECTOR
References:
citation: Reilly S, Cass H. Growth and nutrition in Rett syndrome. Disabil Rehabil. 2001 Feb 15-Mar 10;23(3-4):118-28. doi: 10.1080/09638280150504199.
citation: Oddy WH, Webb KG, Baikie G, Thompson SM, Reilly S, Fyfe SD, Young D, Anderson AM, Leonard H. Feeding experiences and growth status in a Rett syndrome population. J Pediatr Gastroenterol Nutr. 2007 Nov;45(5):582-90. doi: 10.1097/MPG.0b013e318073cbf7.
citation: Rocchigiani M, Sestini S, Micheli V, Pescaglini M, Jacomelli G, Hayek G, Pompucci G. Purine and pyridine nucleotide metabolism in the erythrocytes of patients with Rett syndrome. Neuropediatrics. 1995 Dec;26(6):288-92. doi: 10.1055/s-2007-979776.
citation: Sierra C, Vilaseca MA, Brandi N, Artuch R, Mira A, Nieto M, Pineda M. Oxidative stress in Rett syndrome. Brain Dev. 2001 Dec;23 Suppl 1:S236-9. doi: 10.1016/s0387-7604(01)00369-2.
citation: Viola A, Saywell V, Villard L, Cozzone PJ, Lutz NW. Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model. PLoS One. 2007 Jan 17;2(1):e157. doi: 10.1371/journal.pone.0000157.
citation: Julu PO, Engerstrom IW, Hansen S, Apartopoulos F, Engerstrom B, Pini G, Delamont RS, Smeets EE. Cardiorespiratory challenges in Rett's syndrome. Lancet. 2008 Jun 14;371(9629):1981-3. doi: 10.1016/S0140-6736(08)60849-1. No abstract available.