Rett Syndrome Clinical Trial
Official title:
A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls
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.
Status | Completed |
Enrollment | 13 |
Est. completion date | October 2009 |
Est. primary completion date | October 2009 |
Accepts healthy volunteers | No |
Gender | Female |
Age group | 2 Years to 20 Years |
Eligibility |
Inclusion Criteria: - Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al, 2002)); - MECP2-mutation; - Complete neurophysiological work-up. Exclusion Criteria: - Male gender. |
Time Perspective: Cross-Sectional
Country | Name | City | State |
---|---|---|---|
Netherlands | University Hospital Maastricht | Maastricht | Limburg |
Lead Sponsor | Collaborator |
---|---|
Maastricht University Medical Center |
Netherlands,
Julu PO, Engerström IW, Hansen S, Apartopoulos F, Engerström 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. — View 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. — View Citation
Reilly S, Cass H. Growth and nutrition in Rett syndrome. Disabil Rehabil. 2001 Feb 15-Mar 10;23(3-4):118-28. Review. — View 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. — View 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. — View 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. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 1. What is the nutritional status of the RTT girls? 2. Can metabolic alterations caused by chronic respiratory acidosis or alkalosis be detected? | Once. | No |
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