European Alpha-Mannosidosis Participant

NCT03651245 | Terminated DMC

• 1 other identifier: EUMAP-2018
• Study Type: observational
• Target: 667
• Locations: 2 countries
• Sites: 19

Brief Summary

International, multicenter, observational, longitudinal monitoring study to investigate the prevalence of Alpha-Mannosidosis in participants at risk for Alpha-Mannosidosis.

Conditions

Immunodeficiency; Skeletal Abnormalities; Deafness; Mental Retardation; Gingival Hypertrophy; Facial Dysmorphism

Keywords

Alpha-Mannosidosis disease; prevalence

Outcome Measures

Primary Outcomes (1)

• Epidemiological analysis of the prevalence of Alpha-Mannosidosis disease in a cohort of patients with suspicion for Alpha-Mannosidosis, based on their clinical symptoms.

  Number of identified Alpha-Mannosidosis patients, showing a mutation/pathogenic variant in the MAN2B1-Gene, within a cohort of 1000 suspected cases using respective patient's dry-blood sample for confirmatory genetic testing (NGS-based sequencing of MAN2B1-gene)

  3 years

Secondary Outcomes (1)

• Establishment of biomarker/s in MAN2B1 positive cohort.

  3 years

Study Arms (1)

Participants with suspicion for Alpha-Mannosidosis

Participants with suspicion for Alpha-Mannosidosis based on their clinical symptoms aged from 2 months to 18 years

Eligibility Criteria

• Age: 2 Months - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Participants at risk for Alpha-Mannosidosis

You may qualify if:

• Informed consent is obtained from the participant's parent/legal guardian
• The participant is aged between 2 months and 18 years of age
• The participant has a family history of Alpha-Mannosidosis or is at risk for Alpha-Mannosidosis according to one or more of the following symptoms: recurrent infections, skeletal abnormalities, hearing impairment-deafness, progressive neurological symptoms, impairment of mental functions, gingival hypertrophy, dysmorphic facial features, motoric disturbances of no obvious etiology

You may not qualify if:

• Informed consent is not provided by the partici-pant's parent/legal guardian
• The participant is younger than 2 months or older than 18 years
• The participant has no family history of Alpha-Mannosidosis and is not at risk for Alpha-Mannosidosis (represents none of the following symptoms): recurrent infections, skeletal abnormalities, hearing impairment-deafness, progressive neurological symptoms, impairment of mental functions, gingival hypertrophy, dysmorphic facial features, motoric disturbances of no obvious etiology

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (19)

Uniklinik RWTH Aachen Klinik für Kinder- und Jugendmedizin

Aachen, 52074, Germany

Location

Charité - Universitätsmedizin Berlin, Leitung Sozialpädiatrisches Zentrum, Klinik für Pädiatrie m.S. Neurologie

Berlin, 13353, Germany

Location

Carl-Thiem-Klinikum Cottbus GmbH, Klinik für Kinder und Jugendmedizin

Cottbus, 03049, Germany

Location

Universitätsklinikum Essen, Klinik für Hals-Nasen und Ohrenheilkunde

Essen, 45147, Germany

Location

Universitätsklinikum Gießen, Zentrum für Kinderheilkunde und Jugendmedizin, Abteilung für Kinderneurologie, Sozialpädiatrie und Epileptologie

Giessen, 35385, Germany

Location

Universitätsklinikum Halle Universitätsklinik und Poliklinik für Pädiatrie I

Halle, 06097, Germany

Location

UKE - Universitätsklinikum Hamburg-Eppendorf Klinik und Poliklinik für Hals-, Nasen- und Ohrenheilkunde

Hamburg, 20246, Germany

Location

Evangelisches Krankenhaus Hamm, Klinik für Kinder-und Jugendmedizin

Hamm, 59063, Germany

Location

Medizinische Hochschule Hannover, Deutsches HörZentrum Hannover

Hanover, 30625, Germany

Location

Universitätsklinikum Jena, Klinik für Hals-, Nasen- und Ohrenheilkunde

Jena, 07747, Germany

Location

Universitätsklinikum Jena, Klinik für Neuropädiatrie

Jena, 07747, Germany

Location

UNIVERSITÄTSKLINIKUM LEIPZIG AöR, Klinik und Poliklinik für Hals-, Nasen-, Ohrenheilkunde

Leipzig, 04103, Germany

Location

Sozialpädiatrisches Zentrum der HTZ Neuwied gGmbH

Neuwied, 56564, Germany

Location

Evangelisches Krankenhaus Oberhausen, Sozialpädiatrisches Zentrum

Oberhausen, 46047, Germany

Location

Elblandkliniken Stiftung & Co. KG - Elblandklinkum Riesa Sozialpädiatrisches Zentrum und Frühförderstelle

Riesa, 01589, Germany

Location

Klinik für Kinder-und Jungendmedizin des Universitätsklinikums Ulm

Ulm, 89075, Germany

Location

Zentrum für Kinder und Jugendliche Sozialpädiatrisches Zentrum (SPZ) im Marien-Hospital

Wesel, 46483, Germany

Location

HNO-Universitätsklinik, Universitätsspital Basel

Basel, 4031, Switzerland

Location

Inselspital Bern Universitätsklinik für Neurologie

Bern, 3010, Switzerland

Location

Related Links

• CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

Immunologic Deficiency Syndromes; Deafness; Intellectual Disability; Gingival Hypertrophy

Condition Hierarchy (Ancestors)

Immune System Diseases; Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurobehavioral Manifestations; Neurodevelopmental Disorders; Mental Disorders; Gingival Overgrowth; Gingival Diseases; Periodontal Diseases; Mouth Diseases; Stomatognathic Diseases

Study Officials

• Peter Bauer, Prof. Dr.

  CENTOGENE GmbH

  STUDY CHAIR

Study Design

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

Study Record Dates

• First Submitted: August 24, 2018
• First Posted: August 29, 2018
• Study Start: August 20, 2018
• Primary Completion: May 30, 2022
• Study Completion: May 30, 2022
• Last Updated: June 13, 2022

Record last verified: 2022-06

Data Sharing

• IPD Sharing: Will not share

Locations

CH (2); DE (17)