Infantile-onset ascending hereditary spastic paralysis

IAHSP; spastic paralysis, infantile onset ascending

Clinical Trial: SPATAX

Jump to Section

Purpose
Eligibility
Location and Contact Information
More Information

This study is currently recruiting patients.
Verified by Institut National de la Santé Et de la Recherche Médicale, France August 2005

Sponsors and Collaborators:	Institut National de la Santé Et de la Recherche Médicale, France Institut des Maladies Rares
Information provided by:	Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier:	NCT00140829

Purpose

Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater suggesting further genetic heterogeneity. These progressive disorders are often severe and fatal, due to the absence of specific therapy. The SPATAX network combines the experience of European clinicians and scientists working on these groups of diseases. Over the past year, they have assembled the largest collection of families and achieved a number of tasks (initiation of a clinical and genetic database, distribution of DNA to participating laboratories, mapping of three new loci, refinement of several loci). In addition to clinicians from Europe and Mediterranean countries, who play a major role in collecting families according to evaluation tools developed and validated by the SPATAX members, the group includes major European laboratories devoted to the elucidation of the molecular basis of these disorders. Each laboratory will centralize all families with a subtype of autosomal recessive (AR) CA (n=116) or SP (n=207) in order to efficiently map and identify the responsible gene(s). Genome-wide scans are already underway in 61 families. Given the expertise of the participants, we expect to map and identify several genes during the course of this project. The spectrum of mutations and phenotype/genotype correlations will be analysed thanks to this unique series of patients with various phenotypes. The knowledge gained will be immediately applicable to patients in terms of improved positive diagnosis, follow-up and appropriate genetic counselling. In the long term, models for genetic entity will be developed in order to understand the pathophysiology and to identify new targets for treatment. The series of patients assembled and the precise knowledge of natural history will facilitate the implantation of therapeutic trials based on rational approaches.

Condition	Phase
Cerebellar Ataxias Spastic Paraplegias	Phase I

MedlinePlus related topics: Degenerative Nerve Diseases; Movement Disorders; Paralysis

Study Type: Observational
Study Design: Screening, Longitudinal, Case Control, Prospective Study

Official Title: Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias

Further Study Details:

Expected Total Enrollment: 6000

Study start: July 2003; Expected completion: December 2005
Last follow-up: October 2005; Data entry closure: October 2005

Eligibility

Ages Eligible for Study: 2 Years - 70 Years, Genders Eligible for Study: Both

Accepts Healthy Volunteers

Criteria

Inclusion Criteria:

- progressive ataxia or paraplegia

Exclusion Criteria:

- Lack of signed informed consent

Location and Contact Information

Please refer to this study by ClinicalTrials.gov identifier NCT00140829

Alexandra Dürr, MD, PhD 0033142162182 durr@ccr.jussieu.fr

Algeria
CHU Mustapha, Algiers, 16000, Algeria; Recruiting

Miriem Tazir, MD, PhD 0021321235640 meriemtazir@yahoo.com
Miriem Tazir, MD, PhD, Principal Investigator

Denmark
The Panum Institute, Copenhagen, 2200, Denmark; Recruiting

Jorgen E Nielsen, MD, PhD 004535527816 jnielsen@imbg.ku.dk
Jorgen E Nielsen, MD, PhD, Principal Investigator
Kristin Husby Scheuer, MD, Sub-Investigator

France
Pitié-Salpêtrière Hospital, Paris, 75013, France; Recruiting

Alexandra Dürr, MD, PhD 0033142162182 durr@ccr.jussieu.fr
Alexandra Dürr, MD, PhD, Principal Investigator
Alexis Brice, MD, Sub-Investigator
Bertrand Fontaine, MD, PhD, Sub-Investigator

CHU d''''Angers, Angers, 49000, France; Recruiting

Christophe Verny, MD 003241354613 chverny@chu-angers.fr
Christophe Verny, MD, Principal Investigator

Hôpital Charles Nicolle, Rouen, 76000, France; Recruiting

Didier Hannequin, MD, PhD 0033232888170 Didier.hannequin@chu-rouen.fr
Didier Hannequin, MD, PhD, Principal Investigator

Hôpital Armand Trousseau, Paris, 75012, France; Recruiting

Diana Rodriguez, MD diana.rodriguez@trs.ap-hop-paris.fr
Diana Rodriguez, MD, Principal Investigator

Hôpital de la Timone, Marseille, 13000, France; Recruiting

Jean-Philippe Azulay, MD, PhD 0033491386579 jean-philippe.azulay@mail.ap-hm.fr
Jean-Philippe Azulay, MD, PhD, Principal Investigator

Hôpital Carémeau, Nîmes, 30000, France; Recruiting

Pierre Labauge, MD, PhD 0033466683263 labauge@hotmail.com
Pierre Labauge, MD, PhD, Principal Investigator

CHU, Grenoble, 38000, France; Recruiting

Pierre Pollak, MD, PhD 0033476765791 pierre.pollak@ujf-grenoble.fr

Hôpitaux de Clermont-Ferrand, Clermont-Ferrand, 63000, France; Recruiting

Odile Boespflug-Tanguy, MD, PhD 0033473448657 Odile.BOESPFLUG@inserm.u-clermont1.fr
Odile Boespflug-Tanguy, MD, PhD, Principal Investigator

Italy
Dipartimento Di Scienze Neurologiche, Napoli, 80131, Italy; Recruiting

Alessandro Filla, MD, PhD 00390817462476 afilla@unina.it
Alessandro Filla, MD, PhD, Principal Investigator

Molecular Medicine and Department of Neurosciences, Roma, 00165, Italy; Recruiting

Enrico Bertini, MD, PhD 00390668592105 ebertini@tin.it
Enrico Bertini, MD, PhD, Principal Investigator

Lebanon
Université Saint-Joseph, Beirut, 1107 2180, Lebanon; Recruiting

André Mégarbané, MD, PhD 009611614046 megarban@dm.net.lb
André Mégarbané, MD, PhD, Principal Investigator

Morocco
CHU de Rabat, Rabat, Morocco; Recruiting

Ali Benomar, MD, PhD ali.benomar@hotmail.com
Ali Benomar, MD, PhD, Principal Investigator

Portugal
Hospital San Sebastião, Santa Maria de Feira, 4520-211, Portugal; Recruiting

Paula Coutinho, MD, PhD 00351256362847 pcoutinho@hospitalfeira.min-saude.pt
Paula Coutinho, MD, PhD, Principal Investigator

Saudi Arabia
King Khalid University Hospital, Riyadh, 11461, Saudi Arabia; Recruiting

Mustapha AM Dalih, MD mustapha@ksu.edu.sa
Mustapha AM Salih, MD, Principal Investigator

United Kingdom
The National Hospital, London, WC1N 3BG, United Kingdom; Recruiting

Nicholas W Wood, MD, PhD 00442078373611 nwood@ion.ucl.ac.uk
Nicholas W Wood, MD, PhD, Principal Investigator

Royal Free and University College Medical School, London, NW3 2PF, United Kingdom; Recruiting

Thomas T Warner, MD, PhD TWarner@rfc.ucl.ac.uk
Thomas T Warner, MD, PhD, Principal Investigator

Study chairs or principal investigators

Alexandra Dürr, MD, PhD, Principal Investigator, Assistance Publique - Hôpitaux de Paris
Alessandro Filla, MD, PhD, Principal Investigator, Università Degli Studi Di Napoli Federico II
André Mégarbané, MD, Principal Investigator, Université Saint-Joseph
Ali Benomar, MD, PhD, Principal Investigator, CHU de Rabat
Christophe Verny, MD, Principal Investigator, CHU d''''Angers
Didier Hannequin, MD, PhD, Principal Investigator, Hôpitaux de Rouen
Diana Rodriguez, MD, Principal Investigator, Assistance Publique - Hôpitaux de Paris
Enrico Bertini, MD, Principal Investigator, Università de Roma
François Tison, MD, PhD, Principal Investigator, Hôpitaux de Bordeaux
Jorgen E Nielsen, MD, PhD, Principal Investigator, The Panum Institute
Mustapha Salih, MD, Principal Investigator, College of Medicine and KKUH
Miriem Tazir, MD, PhD, Principal Investigator, Université d''''Alger
Nicholas W Wood, MD, PhD, Principal Investigator, Institute of Neurology
Odile Boespflug-Tanguy, MD, PhD, Principal Investigator, Hôpitaux de Clermont-Ferrand
Jean-Philippe Azulay, MD, PhD, Principal Investigator, Assistance Publique - Hôpitaux de Marseille
Paula Coutinho, MD, PhD, Principal Investigator, University of Porto
Pierre Labauge, MD, PhD, Principal Investigator, Hôpitaux de Nîmes
Pierre Pollak, MD, PhD, Principal Investigator, Hôpitaux de Grenoble
Thomas T Warner, MD, PhD, Principal Investigator, University College, London

More Information

Publications that report results of this study

Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M''''Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8.

Le Ber I, Bouslam N, Rivaud-Pechoux S, Guimaraes J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Durr A. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain. 2004 Apr;127(Pt 4):759-67. Epub 2004 Jan 21.

Le Ber I, Moreira MC, Rivaud-Pechoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Said G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Durr A. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain. 2003 Dec;126(Pt 12):2761-72. Epub 2003 Sep 23.

Le Ber I, Camuzat A, Castelnovo G, Azulay JP, Genton P, Gastaut JL, Broglin D, Labauge P, Brice A, Durr A. Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia. Arch Neurol. 2003 Aug;60(8):1097-9.

Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol. 2005 Apr;57(4):567-71.

Durr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol. 2004 Dec;61(12):1867-72.

Stevanin G, Durr A, Dussert C, Penet C, Brice A. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology. 2004 Sep 14;63(5):936. No abstract available.

Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol. 2004 Aug;61(8):1242-8.

Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from the one observed in familial cases. J Med Genet. 2005 Jul 31; [Epub ahead of print]

Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Durr A, Brice A. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol. 2004 Jan;55(1):97-104.

Tallaksen CM, Guichart-Gomez E, Verpillat P, Hahn-Barma V, Ruberg M, Fontaine B, Brice A, Dubois B, Durr A. Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol. 2003 Aug;60(8):1113-8.

Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet. 2005 Jan 15;14(2):307-18. Epub 2004 Dec 1.

Study ID Numbers: A02191DS
Last Updated: August 31, 2005
Record first received: August 25, 2005
ClinicalTrials.gov Identifier: NCT00140829
Health Authority: France: Ministry of Health
ClinicalTrials.gov processed this record on 2005-09-06

Source: ClinicalTrials.gov
Cache Date: September 7, 2005

Acne Treatment	ADHD Treatment	Allergy Treatment	Alzheimer's Treatment
Anemia Treatment	Arthritis Treatment	Asthma Treatment	Bipolar Disorder Treatment
Bird Flu Treatment	Bladder Cancer Treatment	Bladder Control Treatment	Blood Pressure Treatment
Brain Tumor Treatment	Breast Cancer Treatment	Bronchitis Treatment	Cancer Treatment
Cancer Alternative Treatment	Cataract Treatment	Cirrhosis Treatment	Colitis Treatment
Colon Cancer Treatment	Common Cold Treatment	Conjunctivitis Treatment	Constipation Treatment
Crohn's Disease Treatment	Cystic Fibrosis Treatment	Depression Treatment	Dermatitis Treatment
Diabetes Treatment	Edema Treatment	Epilepsy Treatment	Erectile Dysfunction Treatment
Fibromyalgia Treatment	GERD Treatment	Glaucoma Treatment	Gout Treatment
Hay Fever Treatment	Headache Treatment	Heart Disease Treatment	Hepatitis Treatment
High Blood Pressure Treatment	High Cholesterol Treatment	Hives Treatment	Hypertension Treatment
Hypoglycemia Treatment	IBS Treatment	Impotence Treatment	Indigestion Treatment
Infertility Treatment	Influenza Treatment	Insomnia Treatment	Lactose Intolerance Treatment
Leukemia Treatment	Lung Cancer Treatment	Lyme Disease Treatment	Macular Degeneration Treatment
Menopause Treatment	Migraine Treatment	Osteoarthritis Treatment	Osteoporosis Treatment
Pancreatic Cancer Treatment	PMS Treatment	Pneumonia Treatment	Prostate Diseases Treatment
Restless Leg Treatment	Rheumatoid Arthritis Treatment	Sepsis Treatment	Sinusitis Treatment
Skin Cancer Treatment	Sleep Apnea Treatment	Snoring Treatment	Stroke Treatment
Testicular Cancer Treatment

SPATAX - Article

General Topics A-Z

Infantile-onset ascending hereditary spastic paralysis

IAHSP; spastic paralysis, infantile onset ascending

Clinical Trial: SPATAX

Jump to Section

Purpose

Eligibility

Location and Contact Information

More Information

Take control over your directory listings...INSTANTLY

Limited Time Offer!!!

Popular Treatments

SPATAX - Article

General Topics A-Z

Infantile-onset ascending hereditary spastic paralysis

IAHSP; spastic paralysis, infantile onset ascending

Clinical Trial: SPATAX

Jump to Section

Purpose

Eligibility

Location and Contact Information

More Information

Take control over your directory listings...INSTANTLY

Limited Time Offer!!!

Popular Treatments

Sign Up Now