The Natural History of Alpha-Mannosidosis

NCT00498420 | Completed

• 2 other identifiers: rhLAMAN-012004-2.1.1-10
• Study Type: observational
• Target: 45
• Locations: 4 countries
• Sites: 4

Brief Summary

The natural history study of the rare lysosomal disease alpha-mannosidosis will answer the question; why the rare disease develops as it does?

Conditions

Alpha Mannosidosis

Keywords

HUE-MAN; Rare disorder; Hepatosplenomegaly; Dysostosis

Eligibility Criteria

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

Study Population

To be eligible to proceed, each subject must meet all inclusion and exclusion criteria during the screening periode.

You may qualify if:

• The patient (or patient's legal guardian) must provide written informed consent prior to performing any survey-related procedures.
• The patient must have a documented diagnosis of Alpha Mannosidosis, confirmed at screening by measurable clinical signs and symptoms of Alpha Mannosidosis
• Documented deficiency of serum or leukocyte acid alpha-mannosidase enzyme activity level

You may not qualify if:

• History of bone marrow transplantation.
• Use of an investigational drug within 30 days prior to study enrollment.
• Known medical condition, serious intercurrent illness, or other extenuating circumstance that may significantly decrease study compliance.

Sponsors & Collaborators

• Zymenex A/S: lead
• European Commission: collaborator

Study Sites (4)

Department of Pediatrics, Charles University

Prague, 12000 Prague, Czechia

Location

University of Mainz

Mainz, 55101, Germany

Location

Department of Medicine, University of Tromsoe

Tromsø, N-9038, Norway

Location

Willink Biochemical Genetics Unit,. Royal Manchester Children's Hospital

Manchester, M27 4HA, United Kingdom

Location

Related Publications (2)

• Beck M, Olsen KJ, Wraith JE, Zeman J, Michalski JC, Saftig P, Fogh J, Malm D. Natural history of alpha mannosidosis a longitudinal study. Orphanet J Rare Dis. 2013 Jun 20;8:88. doi: 10.1186/1750-1172-8-88.

  PMID: 23786919 RESULT

• Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen O, Dali CI, Lund AM. Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. Orphanet J Rare Dis. 2015 Jun 6;10:70. doi: 10.1186/s13023-015-0286-x.

  PMID: 26048034 RESULT

Related Links

• These websites are dedicated to the HUE-MAN project

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

alpha-Mannosidosis; Rare Diseases; Dysostoses

Condition Hierarchy (Ancestors)

Mannosidase Deficiency Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases

Study Officials

• Michael Beck, MD

  Children's Hospital, University of Mainz

  PRINCIPAL INVESTIGATOR

• Ed Wraith, MD

  Willink Biochemical Genetics Unit, Royal Manchester Childern's Hospital

  PRINCIPAL INVESTIGATOR

• Jiri Zeman, MD

  Department of Pediatrics, Charles University

  PRINCIPAL INVESTIGATOR

• Dag Malm, MD

  Department of Medicine, University of Tromsoe

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: July 9, 2007
• First Posted: July 10, 2007
• Study Start: May 1, 2007
• Primary Completion: September 1, 2009
• Study Completion: November 1, 2009
• Last Updated: August 3, 2020

Record last verified: 2020-07

Locations

GB (1); DE (1); NO (1); CZ (1)