A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI

NCT01914536 | Unknown

• 1 other identifier: IIBSP-POM-2013-46
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

This project is an observational prospective study in which patients affected by an adult onset Pompe disease will be followed-up during three years using different clinical, analytical and radiological tests in order to know which is the natural history of the disease and which is the impact that treatment with recombinant enzyme has in the progression of the disease.

Conditions

Pompe Disease

Keywords

POMPE; Glycogenosis type II; Acid maltase deficiency

Outcome Measures

Primary Outcomes (1)

• Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease

  To know the natural progression of the disease regarding muscle atrophy measured using muscle MRI during a period of three years.

  baseline, 6 months, one year, two years and three years

Secondary Outcomes (2)

• Muscle strength

  baseline, 6 months, one year, two years and three years

• Micro RNA study

  baseline, 6 months, one year, two years and three years

Study Arms (1)

Pompe patients

Adult onset pompe patients being or not treated with enzyme therapy replacement

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult onset Pompe Patients

You may qualify if:

• Pompe disease confirmed using genetic study
• Onset of symptoms more than 2 years old
• To be able to come to the hospital and follow all the visits
• Patients with respiratory involvement are welcomed

You may not qualify if:

• Patients unable to perform a MRI (respiratory problems can be solved using mechanical ventilation)

Sponsors & Collaborators

• Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau: lead
• Genzyme, a Sanofi Company: collaborator

Study Sites (1)

Hospital de la Santa Creu iSant Pau

Barcelona, Barcelona, 08025, Spain

RECRUITING

Related Publications (1)

• Carrasco-Rozas A, Fernandez-Simon E, Lleixa MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nunez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I; Pompe Spanish Study group; Diaz-Manera J, Gallardo E. Identification of serum microRNAs as potential biomarkers in Pompe disease. Ann Clin Transl Neurol. 2019 Jul;6(7):1214-1224. doi: 10.1002/acn3.50800. Epub 2019 Jun 12.

  PMID: 31353854 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood an urine samples will be obtained

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

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; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Jordi Díaz Manera, MD PhD

  Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

  PRINCIPAL INVESTIGATOR

• Isabel Illa, MD pHD

  Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

  STUDY DIRECTOR

Central Study Contacts

Jordi Díaz_Manera, MD PhD

CONTACT

0034-935565986; JDiazM@santpau.cat

Sonia Segovia Simon

CONTACT

0034-935565978; SSegovia@santpau.cat

Study Design

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

Study Record Dates

• First Submitted: July 31, 2013
• First Posted: August 2, 2013
• Study Start: July 1, 2013
• Primary Completion: July 1, 2014
• Study Completion: July 1, 2017
• Last Updated: August 30, 2013

Record last verified: 2013-08

Locations

ES (1)