In Vitro NMR Spectroscopy in Neurological Diseases (SPECMET)

This study has been terminated.
(not enough enrollment)
Sponsor:
Information provided by:
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT00841984
First received: February 11, 2009
Last updated: NA
Last verified: February 2009
History: No changes posted
  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 ] [ Designated as safety issue: Yes ]

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

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
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:

  • none
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: 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

No publications provided

Responsible Party: Zakia Idir, Department Clinical Research
ClinicalTrials.gov Identifier: NCT00841984     History of Changes
Other Study ID Numbers: P051057
Study First Received: February 11, 2009
Last Updated: February 11, 2009
Health Authority: France: Ministry of Health

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

ClinicalTrials.gov processed this record on April 17, 2014