Natural History of Pompe Disease

NCT03564561 | Recruiting

• 2 other identifiers: P160405J2017-A02458-45
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

The project is a prospective study in which patients affected by adult-onset Pompe disease with c.-32-13T\>G mutation in the GAA gene will be followed-up during two years to describe the natural history using clinical, imaging, histological and molecular parameters. Secondary objectives are:

• To identify biomarkers for assessing efficacy of future therapies based on correcting aberrant alternative splicing in Pompe patients with c.-32-13T\>G mutations.
• To determine effectiveness of antisense oligonucleotide chemistries to restore full length GAA transcripts, GAA protein and GAA enzyme activity in fibroblasts and myoblasts obtained from skin and muscle biopsies as well as leucocytes of Pompe patients with c.-32-13T\>G mutations.

Conditions

Glycogen Storage Disease Type II, Adult

Keywords

glycogen storage disease type II, adult; Pompe disease; clinical evolution; molecular evolution; follow-up; c.-32-13T>G mutation; antisense oligonucleotide treatment; in vitro

Outcome Measures

Primary Outcomes (5)

• The Six-Minute Walk Test

  At baseline

• The Six-Minute Walk Test

  at 6 months

• The Six-Minute Walk Test

  at 12 months

• The Six-Minute Walk Test

  at 18 months

• The Six-Minute Walk Test

  at 24 months

Secondary Outcomes (25)

• Moter assessment: quadriceps strength

  At baseline, at 6, 12, 18 and 24 months

• Moter assessment: : the MFM moter function measure scale

  At baseline, at 6, 12, 18 and 24 months

• Moter assessment: timed 10 meters run/walk test

  At baseline, at 6, 12, 18 and 24 months

• Moter assessment: timed test for standing up from sitting position

  At baseline, at 6, 12, 18 and 24 months

• Moter assessment: timed test for standing up from supine position

  At baseline, at 6, 12, 18 and 24 months

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult patients between 18 and 80 years with adult-onset Pompe disease who carry the common c.-32-13T\>G mutation of GAA gene, treated or not by Myozyme.

You may qualify if:

• Pompe disease Patient with c.-32-13T\>G mutation in at least one allele of GAA gene.
• Ambulating patient : six-minute walk test distance \> 50 m.
• Patient aged between 18 and 80 years.
• Informed consent signed par patient.
• Patient covered by a health insurance.

You may not qualify if:

• Invasive mechanical ventilation
• Pregnant woman
• Presence of comorbidity, in particular preexisting diseases like chronic infectious diseases (VIH infection, hepatitis or others), asthma, malignant tumour, hematologic diseases
• Patient who participate in another clinical trial
• Life expectancy \< 12 months
• Unable to understand instructions and restraints of the study

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Raymond Poincaré

Garches, Hauts-de-Seine, 92380, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood, urine, skeletal muscle biopsy, skin biopsy: 1. Blood for serum markers, DNA and white blood cell culture (lymphoblastoid cell line). 2. Skeletal muscle biopsy for histology, RNA and protein analysis, myoblast culture. 3. Skin biopsy for RNA and protein analysis, fibroblast culture. 4. Urine for biomarker analysis.

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

• Helge Amthor, MD, PhD

  Hôpital Raymond Poincaré

  PRINCIPAL INVESTIGATOR

• Pascal Laforêt, MD, PhD

  Hôpital Raymond Poincaré

  STUDY DIRECTOR

Central Study Contacts

Helge Amthor, MD, PhD

CONTACT

+ 33 1 47 10 78 90; helge.amthor@aphp.fr

Pascal Laforêt, MD, PhD

CONTACT

+ 33 1 47 10 37 76; pascal.laforet@aphp.fr

Study Design

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

Study Record Dates

• First Submitted: March 27, 2018
• First Posted: June 21, 2018
• Study Start: June 7, 2019
• Primary Completion (Estimated): March 1, 2033
• Study Completion (Estimated): March 1, 2033
• Last Updated: April 8, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)