Biomarkers in Autosomal Dominant Cerebellar Ataxia

NCT01470729 | Completed

• 1 other identifier: P100125
• Study Type: observational
• Target: 102
• Locations: 1 country
• Sites: 1

Brief Summary

Autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders that are clinically and genetically various. BIOSCA study aims to identify markers of the metabolism (energy production inside the cells) in the blood and the brain of ADCA 1,2,3 and 7 patients and control subjects, in the perspective of future therapeutic trials.

Conditions

Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia, Autosomal Recessive 3; Episodic Ataxia, Type 7

Keywords

Spinocerebellar ataxia, energy metabolism, NMR spectroscopy

Outcome Measures

Primary Outcomes (1)

• metabolic biomarkers of SCA

  12 months or 24 months

Secondary Outcomes (1)

• imaging biomarkers of SCA

  24 months

Study Arms (4)

Spinocerebellar Ataxia type 1 (SCA1)

Spinocerebellar Ataxia type 1 (SCA1)

Other: metabolic and imaging biomarkers in SCA1,2,3 and 7 patients

Spinocerebellar Ataxia type 2 (SCA2)

Spinocerebellar Ataxia type 2 (SCA2)

Other: metabolic and imaging biomarkers in SCA1,2,3 and 7 patients

Spinocerebellar Ataxia type 3 (SCA3)

Spinocerebellar Ataxia type 3 (SCA3)

Other: metabolic and imaging biomarkers in SCA1,2,3 and 7 patients

Spinocerebellar Ataxia type 7 (SCA7)

Spinocerebellar Ataxia type 7 (SCA7)

Other: metabolic and imaging biomarkers in SCA1,2,3 and 7 patients

Interventions

metabolic and imaging biomarkers in SCA1,2,3 and 7 patients OTHER

MRI, a bone mineral density and a resting metabolic rate assessments, as well as donating fasted blood samples

Spinocerebellar Ataxia type 1 (SCA1); Spinocerebellar Ataxia type 2 (SCA2); Spinocerebellar Ataxia type 3 (SCA3); Spinocerebellar Ataxia type 7 (SCA7)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Spinocerebellar Ataxia Type 1 (SCA1) Spinocerebellar Ataxia Type 2 (SCA2) Spinocerebellar Ataxia Type 3 (SCA3) Spinocerebellar Ataxia Type 7 (SCA7)

You may qualify if:

• More than 18 years of age
• Ability to tolerate MRI
• Positive genetic test to SCA1, 2, 3 or 7
• Coverage by social insurance
• Written informed consent must be obtained from the subject

You may not qualify if:

• Less than 18 years of age
• Concomitant significant neurological disorder
• Unsuitability for MRI, e.g. claustrophobia, metal implants
• History of significant head injury
• Unability to receive an informed explanation about the protocol
• Unability to complete the protocol
• Non coverage by social insurance
• No written informed consent obtained

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Groupe Hospitalier Pitié Salpêtrière

Paris, 75013, France

Location

Related Publications (5)

• Adanyeguh IM, Henry PG, Nguyen TM, Rinaldi D, Jauffret C, Valabregue R, Emir UE, Deelchand DK, Brice A, Eberly LE, Oz G, Durr A, Mochel F. In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7. Mov Disord. 2015 Apr 15;30(5):662-70. doi: 10.1002/mds.26181. Epub 2015 Mar 15.

  PMID: 25773989 RESULT

• Adanyeguh IM, Perlbarg V, Henry PG, Rinaldi D, Petit E, Valabregue R, Brice A, Durr A, Mochel F. Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes. Neuroimage Clin. 2018 Jun 14;19:858-867. doi: 10.1016/j.nicl.2018.06.011. eCollection 2018.

  PMID: 29922574 RESULT

• Garali I, Adanyeguh IM, Ichou F, Perlbarg V, Seyer A, Colsch B, Moszer I, Guillemot V, Durr A, Mochel F, Tenenhaus A. A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia. Brief Bioinform. 2018 Nov 27;19(6):1356-1369. doi: 10.1093/bib/bbx060.

  PMID: 29106465 RESULT

• Faber J, Schaprian T, Berkan K, Reetz K, Franca MC Jr, de Rezende TJR, Hong J, Liao W, van de Warrenburg B, van Gaalen J, Durr A, Mochel F, Giunti P, Garcia-Moreno H, Schoels L, Hengel H, Synofzik M, Bender B, Oz G, Joers J, de Vries JJ, Kang JS, Timmann-Braun D, Jacobi H, Infante J, Joules R, Romanzetti S, Diedrichsen J, Schmid M, Wolz R, Klockgether T. Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3. Mov Disord. 2021 Oct;36(10):2273-2281. doi: 10.1002/mds.28610. Epub 2021 May 5.

  PMID: 33951232 DERIVED

• Coarelli G, Darios F, Petit E, Dorgham K, Adanyeguh I, Petit E, Brice A, Mochel F, Durr A. Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia. Neurobiol Dis. 2021 Jun;153:105311. doi: 10.1016/j.nbd.2021.105311. Epub 2021 Feb 23.

  PMID: 33636389 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

blood

MeSH Terms

Conditions

Spinocerebellar Ataxias; Spinocerebellar ataxia, autosomal recessive 3; Episodic Ataxia, Type 7

Interventions

Metabolic Networks and Pathways

Condition Hierarchy (Ancestors)

Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Ataxia; Dyskinesias; Neurologic Manifestations; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Metabolism

Study Officials

• Alexandra DURR, PhD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 9, 2011
• First Posted: November 11, 2011
• Study Start: November 1, 2011
• Primary Completion: December 1, 2015
• Study Completion: December 1, 2015
• Last Updated: September 6, 2019

Record last verified: 2014-06

Locations

FR (1)