Glycogen Storage Disease Type II, Adult Clinical Trial
— POMPEOfficial title:
Clinical and Molecular Aspects of Adult Onset Pompe Disease: a Natural History Study
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.
Status | Recruiting |
Enrollment | 20 |
Est. completion date | March 2033 |
Est. primary completion date | March 2033 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 18 Years to 80 Years |
Eligibility | Inclusion Criteria: - 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. Exclusion Criteria: - 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 |
Country | Name | City | State |
---|---|---|---|
France | Hôpital Raymond Poincaré | Garches | Hauts-de-Seine |
Lead Sponsor | Collaborator |
---|---|
Assistance Publique - Hôpitaux de Paris |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | The Six-Minute Walk Test | At baseline | ||
Primary | The Six-Minute Walk Test | at 6 months | ||
Primary | The Six-Minute Walk Test | at 12 months | ||
Primary | The Six-Minute Walk Test | at 18 months | ||
Primary | The Six-Minute Walk Test | at 24 months | ||
Secondary | Moter assessment: quadriceps strength | Quadriceps muscle strength assessed following magnetic stimulated of femoral nerve. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Moter assessment: : the MFM moter function measure scale | Measurement of motor function by MFM (Motor Function Measure) scale. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Moter assessment: timed 10 meters run/walk test | Time for a 10-meter walk. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Moter assessment: timed test for standing up from sitting position | Time for getting up from a chair. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Moter assessment: timed test for standing up from supine position | Time for getting up from decubitus position. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Moter assessment: time taken to climb 4 stairs | Time for climbing 4 stairs. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Moter assessment: three-dimensional analysis of walk | 3D analysis of walking. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Moter assessment: 6-minute walk test | The 6-minute walk test. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Body composition | Osteodensitometry. | At baseline, 12th and 24th months | |
Secondary | Body composition | Body composition (ratio lean mass / fat mass) measure by dual-energy X-ray absorptiometry. | At baseline, 12th and 24th months | |
Secondary | Body composition | Body Mass Index (BMI). | At baseline, 12th and 24th months | |
Secondary | Evaluation of skeletal muscle by MRI imaging | Whole-body muscle MRI protocol :
Short tau inversion recovery (STIR). T2-axial and coronal 3D. IDEAL IQ. |
At baseline, 12th and 24th months | |
Secondary | Respiratory parameters: dyspnea using Borg scale | Evaluation of dyspnea using Borg scale. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Respiratory assessment: alveolar hypoventilation identification | Identification of clinical signs of alveolar hypoventilation. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Respiratory parameters: daily duration of non-ventilation for ventilated patients | Daily duration of non-ventilation for ventilated patients. | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Heart function assessment | Assessment of heart assessment using heart echography | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Heart function assessment | Assessment of heart assessment using ECG | At baseline, at 6, 12, 18 and 24 months | |
Secondary | Quality of life assessment | Evaluate by Questionnaire EQ5D-5L. | At baseline | |
Secondary | Quality of life assessment | Evaluate by Rotterdam handicap scale. | At baseline | |
Secondary | Quality of life assessment | Evaluate by Rasch-built Pompe-specific activity (R-Pact) scale. | At baseline | |
Secondary | Histological features | Histological study by using muscular biopsy culture with Periodic acid-Schiff stain and H&E stain. | At baseline | |
Secondary | Genotype | Determination of patient's GAA genotypes on blood sample. | At baseline | |
Secondary | Molecular and biochemical parameters: muscular biopsy | Muscular biopsy:
Quantification of alternative splicing and residual enzymatic activity of acid alpha-glucosidase (GAA) of Pompe patient with c.-32 -13T>G mutation of GAA gene. |
At baseline | |
Secondary | Molecular and biochemical parameters: cutaneous biopsy | Cutaneous biopsy:
Quantification of alternative splicing and residual enzymatic activity of acid alpha-glucosidase (GAA) of Pompe patient with c.-32 -13T>G mutation of GAA gene. |
At baseline | |
Secondary | Biomarkers | Blood sample (serum):
Dosing of CPK, GPT and GOT level in serum. |
At baseline |
Status | Clinical Trial | Phase | |
---|---|---|---|
Not yet recruiting |
NCT06130228 -
Nutritional Therapy in Late-onset Pompe Disease
|
Phase 2 |