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Trial record 1 of 5 for:    GM2 Gangliosidosis | Germany
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Registry Gangliosidoses

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ClinicalTrials.gov Identifier: NCT04624789
Recruitment Status : Recruiting
First Posted : November 12, 2020
Last Update Posted : November 12, 2020
Sponsor:
Information provided by (Responsible Party):
SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt)

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.

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

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 40 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses
Actual Study Start Date : June 8, 2020
Actual Primary Completion Date : June 12, 2020
Estimated Study Completion Date : June 7, 2025


Group/Cohort
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



Primary Outcome Measures :
  1. Disease progression will be assessed by the 8 in 1 score [ Time Frame: 5 years ]
    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.


Secondary Outcome Measures :
  1. Characterization of the first neurological symptom [ Time Frame: 5 years ]
    In a systematic interview all aspects of medical history and development will be acquisited. The first neurological symptom will be reflected in view of parents/caregiver, GP and disease expert. The timepoint of occurrance and who recognized the finding will be evaluated.


Biospecimen Retention:   Samples Without DNA
DBS Plasma


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Gangliosidoses
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

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

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): NCT04624789


Contacts
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Contact: Eugen Mengel, MD 0496146904820 info@sphincs.de
Contact: Yasmina Amraoui, MD 0496146904820 info@sphincs.de

Locations
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Germany
SphinCS Lyso gemeinnützige UG (haftungsbeschränkt) Recruiting
Hochheim, HE, Germany, 65239
Contact: Eugen Mengel, MD    0496146904820    info@sphincs.de   
Contact: Yasmina Amraoui, MD    0496146904820    info@sphincs.de   
Sponsors and Collaborators
SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt)
Publications:

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Responsible Party: SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt)
ClinicalTrials.gov Identifier: NCT04624789    
Other Study ID Numbers: D001
First Posted: November 12, 2020    Key Record Dates
Last Update Posted: November 12, 2020
Last Verified: October 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt):
Gangliosides
ß-Galactosidase
Neuraminidase
Protective Protein/Cathepsin A
Hexosaminidase A
Hexosamidase A&B
GM2-activator-protein
Additional relevant MeSH terms:
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Gangliosidoses
Tay-Sachs Disease
Gangliosidosis, GM1
Gangliosidoses, GM2
Tay-Sachs Disease, AB Variant
Sandhoff Disease
Mucopolysaccharidosis IV
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
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
Mucinoses
Connective Tissue Diseases