Registry Gangliosidoses

NCT04624789 | Unknown

• 1 other identifier: D001
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

The clinical project "Eight At One Stroke: Attention Gangliosidoses" represents a clinical registry for recording the clinical manifestation and the disease progression of gangliosidoses. The intention of this project is to better understand the manifestation and progression of gangliosidoses and to raise awareness of these disorders in the public health service. The patients or their families, respectively, will be integrated in the study in order to measure Patient Outcome and to objectify the psychosocial burden for the patient and his family. The study has a retrospective and a prospective part. It is planned to transfer the data of the study into a continuous registry.

Conditions

Gangliosidoses; GM1 Gangliosidosis; Morquio B Disease; Sialidosis; Galactosialidosis; Gm2-Gangliosidosis, Variant B1; Tay-Sachs Disease; Sandhoff Disease; GM2 Activator Deficiency

Keywords

Gangliosides; ß-Galactosidase; Neuraminidase; Protective Protein/Cathepsin A; Hexosaminidase A; Hexosamidase A&B; GM2-activator-protein

Outcome Measures

Primary Outcomes (1)

• Disease progression will be assessed by the 8 in 1 score

  Disease progression was assessed by the 8 in 1 score, which is a disease specific instrument adapted from other scores in neurodegenerative and lysosomal diseases (NPC, CLN). The instrument is designed to monitor disease progession and measure disease severity. The 8 in 1 score summarizes 8 domains (partizipation, medical care, ambulation, manipulation, swallowing, speech, epilepsy and cognition) ranging from 0 - 40. A higher score indicates more severe clinical impairment.

  5 years

Secondary Outcomes (1)

• Characterization of the first neurological symptom

  5 years

Study Arms (2)

GM1-Gangliosidosis - Sialidosis

Confirmed diagnosis of: * GM1-Gangliosidosis Morquio B Variant * Sialidosis * Galactosialidosis

GM2-Gangliosidoses

Confirmed diagnosis of: * Tay-Sachs Disease, incl. B1-Variante * Sandhoff Disease * GM2-Activator-Deficiency

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Gangliosidoses

You may qualify if:

• Biochemically and/or genetically affirmed diagnosis of a gangliosidosis
• The patient or respectively the parents or the caregiver (for children or older underage patients) have given written informed consent

You may not qualify if:

• The diagnosis of a gangliosidosis has not biochemically or genetically confirmed.
• A written informed consent of the patient or parents/acaregiver does not exist.

Sponsors & Collaborators

• SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt): lead

Study Sites (1)

SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)

Hochheim am Main, Hesse, 65239, Germany

RECRUITING

Related Publications (8)

• Harding AE, Young EP, Schon F. Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. J Neurol Neurosurg Psychiatry. 1987 Jun;50(6):687-90. doi: 10.1136/jnnp.50.6.687.

  PMID: 2956362 BACKGROUND

• Neudorfer O, Kolodny EH. Late-onset Tay-Sachs disease. Isr Med Assoc J. 2004 Feb;6(2):107-11. No abstract available.

  PMID: 14986470 BACKGROUND

• Tutor JC. Biochemical characterization of the GM2 gangliosidosis B1 variant. Braz J Med Biol Res. 2004 Jun;37(6):777-83. doi: 10.1590/s0100-879x2004000600001. Epub 2004 May 27.

  PMID: 15264019 BACKGROUND

• Sperb F, Vairo F, Burin M, Mayer FQ, Matte U, Giugliani R. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. Gene. 2013 Jan 1;512(1):113-6. doi: 10.1016/j.gene.2012.09.106. Epub 2012 Oct 6.

  PMID: 23046582 BACKGROUND

• Caciotti A, Garman SC, Rivera-Colon Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7.

  PMID: 21497194 BACKGROUND

• Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008 Aug;94(4):391-396. doi: 10.1016/j.ymgme.2008.04.012. Epub 2008 Jun 3.

  PMID: 18524657 BACKGROUND

• Cachon-Gonzalez MB, Zaccariotto E, Cox TM. Genetics and Therapies for GM2 Gangliosidosis. Curr Gene Ther. 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622.

  PMID: 29618308 BACKGROUND

• Ries M, Mendoza G, Arash-Kaps L, Amraoui Y, Quack F, Hardt B, Diederich S, Beck M, Mengel E. Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis. Genet Med. 2022 Dec;24(12):2434-2443. doi: 10.1016/j.gim.2022.09.001. Epub 2022 Oct 4.

  PMID: 36194207 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

DBS Plasma

MeSH Terms

Conditions

Gangliosidoses; Gangliosidosis, GM1; Mucopolysaccharidosis IV; Mucolipidoses; Neuraminidase deficiency with beta-galactosidase deficiency; Gm2-Gangliosidosis, Variant B1; Tay-Sachs Disease; Sandhoff Disease; Tay-Sachs Disease, AB Variant; Gangliosidoses, GM2

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases

Central Study Contacts

Eugen Mengel, MD

CONTACT

0496146904820; info@sphincs.de

Yasmina Amraoui, MD

CONTACT

0496146904820; info@sphincs.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 29, 2020
• First Posted: November 12, 2020
• Study Start: June 8, 2020
• Primary Completion: June 12, 2020
• Study Completion: June 7, 2025
• Last Updated: November 12, 2020

Record last verified: 2020-10

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)