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In Vitro NMR Spectroscopy in Neurological Diseases (SPECMET)

This study has been terminated.
(not enough enrollment)
Sponsor:
ClinicalTrials.gov Identifier:
NCT00841984
First Posted: February 12, 2009
Last Update Posted: February 12, 2009
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by:
Assistance Publique - Hôpitaux de Paris
  Purpose

The search for metabolic abnormalities in patients with neurological disorders represents an important challenge 1) to identify new potentially treatable inherited metabolic diseases, and 2) to identify biomarkers or new treatments in more common neurodegenerative or neurogenetic disorders.

This approach is currently limited by the fact that techniques aiming at identifying abnormal metabolites in human fluids (metabolomics) only detect subsets of molecules and that no general assays is available to detect abnormalities in the metabolism of complex molecules that takes place within cell organelles. As a consequence, only limited parts of the metabolism can be studied simultaneously.

The aim of this study is to evaluate whether NRM spectroscopy of body fluids (urines, cerebrospinal fluid) could allow to detect new metabolic abnormalities in patients with complex neurological diseases.


Condition
Neurological Diseases

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Evaluation of in Vitro NMR Spectroscopy to Identify Inborn Errors of Metabolism in Patients With Complex Neurological Diseases

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Number of patients with new metabolic diseases [ Time Frame: during the study ]

Biospecimen Retention:   Samples Without DNA
urines, cerebrospinal fluid

Enrollment: 271
Study Start Date: July 2006
Study Completion Date: January 2009
Primary Completion Date: July 2008 (Final data collection date for primary outcome measure)
Groups/Cohorts
1
patients with complex neurological disease of unknown cause
2
positive controls : patients with already known metabolic disease for whom we already have CSF or urines
3
negative controls: patients with non metabolic neurological disorders of known cause hospitalized for a lumbar puncture

Detailed Description:

It is now established that most inborn errors of metabolism may present in adulthood as a neurological disorder. The diagnosis of these diseases is essential because, unlike the so-called neurodegenerative diseases, metabolic diseases are often accessible to specific treatments.

Conversely, many patients are followed for a complex neurological disease of unknown cause. We hypothesize that a significant proportion of these patients carry yet undetected inborn error of metabolism.

Recently, the use of Nuclear magnetic resonance spectroscopy (NMRS) has uncovered new metabolic diseases leading sometimes to specific treatments. However, the place of this technique in the investigation of patients with complex neurological diseases remains to be determined.

The primary goal of this project is to assess the interest of NMRS in urine and CSF to search metabolic abnormalities, not detected by conventional biochemical techniques. It is an open study. The study will be conducted in close collaboration between the neurology and genetic departments of the Pitié-Salpêtrière hospital, on the one hand and the nuclear medicine department of Poitiers in the other. 250 patients will be included over a period of 2-3 years and will be divided into 4 groups: Group 1: patients with complex neurological disease of unknown cause (200 patients) for whom urines and CSF will be collected. Group 2: positive controls (25 patients): patients with already known metabolic disease for whom we already have CSF or urines. Group 3: negative controls (25 patients): patients with non metabolic neurological disorders of known cause hospitalized for a lumbar puncture.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adult patients with an unexplained complex neurological disease
Criteria

Inclusion Criteria:

  • Group 1: Any patient with an unexplained complex neurological disease
  • Group 2: Patients with known inborn error of metabolism
  • Group 3: patients with known non metabolic disease

Exclusion Criteria:

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00841984


Locations
France
Neurology department, Pitié-Salpêtrière Hospital
Paris, France, 75013
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Frederic Sedel, MD, PhD Assistance Publique - Hôpitaux de Paris
  More Information

Responsible Party: Zakia Idir, Department Clinical Research
ClinicalTrials.gov Identifier: NCT00841984     History of Changes
Other Study ID Numbers: P051057
First Submitted: February 11, 2009
First Posted: February 12, 2009
Last Update Posted: February 12, 2009
Last Verified: February 2009

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Magnetic resonance spectroscopy
neurological diseases
metabolic
inborn errors of metabolism
Complex neurological diseases of unknown cause

Additional relevant MeSH terms:
Metabolism, Inborn Errors
Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases