NCT00786071

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
13

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started May 2009

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 4, 2008

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 5, 2008

Completed
6 months until next milestone

Study Start

First participant enrolled

May 1, 2009

Completed
5 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2009

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2009

Completed
Last Updated

March 4, 2010

Status Verified

March 1, 2010

Enrollment Period

5 months

First QC Date

November 4, 2008

Last Update Submit

March 3, 2010

Conditions

Rett Syndrome

Keywords

Rett syndrome.Nutritional status.Metabolic alterations.

Outcome Measures

Primary Outcomes (1)

  • 1. What is the nutritional status of the RTT girls? 2. Can metabolic alterations caused by chronic respiratory acidosis or alkalosis be detected?

    Once.

Study Arms (1)

Rett syndrome girls

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

Eligibility Criteria

Age2 Years - 20 Years
Sexfemale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-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.

You may qualify if:

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

You may not qualify if:

  • Male gender.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University Hospital Maastricht

Maastricht, Limburg, 6229 HX, Netherlands

Location

Related Publications (6)

  • 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.

    PMID: 11247007BACKGROUND

  • 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.

    PMID: 18030237BACKGROUND

  • 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.

    PMID: 8719742BACKGROUND

  • 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.

    PMID: 11738881BACKGROUND

  • 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.

    PMID: 17237885BACKGROUND

  • 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.

    PMID: 18555901BACKGROUND

Biospecimen

Retention: SAMPLES WITHOUT DNA

Whole blood, serum, dried blood spot, leukocytes, erythrocytes, urine.

MeSH Terms

Conditions

Rett Syndrome

Condition Hierarchy (Ancestors)

X-Linked Intellectual DisabilityIntellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHeredodegenerative Disorders, Nervous System

Study Officials

  • Leopold MG Curfs, Professor

    Maastricht University Medical Center

    STUDY DIRECTOR

  • Eric EJ Smeets, MD, PhD

    Maastricht University Medical Center

    STUDY DIRECTOR

Study Design

Study Type
observational
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER

Study Record Dates

First Submitted

November 4, 2008

First Posted

November 5, 2008

Study Start

May 1, 2009

Primary Completion

October 1, 2009

Study Completion

October 1, 2009

Last Updated

March 4, 2010

Record last verified: 2010-03

Locations

NL(1)