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出境医 / 临床实验 / Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease

Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease

Study Description
Brief Summary:

Pompe disease is known as glycogen storage disease type II, an autosomal recessive disease that results from acid alpha-glucosidase (GAA) deficiency leading to lysosomal glycogen accumulation. Patients with classic infantile form have less than 1% of enzyme activity, which explains severe impairment before one year with rapid death without treatment, while later-onset form shows progressive symptoms later in childhood (juvenile form) or adulthood (adult form).

Enzyme replacement therapy (ERT) consists of periodic intravenous infusion of missing GAA produced by the recombinant method. ERT improves significantly the cardiac function and the children's survival in classic infantile form. This therapy has been approved for all patients with Pompe's disease in the United States and the European Union since 2006, but its efficacy was not clear for patients with later-onset form. Recent studies show motor improvement in adult patients, but there is little published data for the juvenile form disease. A separate analysis of juvenile form is justified as patients are still in a developmental stage and show clinical symptoms early in life, may have more severe disease and a different response to ERT. The recommendation is no treatment in the absence of clinical symptoms, but the consensus does not stratify patients into juvenile- or adult-onset form. ERT is an expensive long-term therapy, and its administration every 2 weeks in the hospital is a great limitation for patients. Therefore, an evaluation of the treatment effect in patients with the juvenile form is necessary.


Condition or disease
Pompe's Disease Juvenile Onset

Detailed Description:
This study includes patients from several hospitals in france. The parameters allowing the evaluation of the respiratory and muscular function are collected.
Study Design
Layout table for study information
Study Type : Observational
Estimated Enrollment : 10 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Effect of Enzyme Replacement Therapy in Patients With Juvenile-Onset Pompe Disease: a Long-term Observational Study
Actual Study Start Date : April 1, 2021
Actual Primary Completion Date : June 30, 2021
Estimated Study Completion Date : July 30, 2021
Arms and Interventions
Group/Cohort
French patients with juvenile Pompe disease
We aim to include all French patients with juvenile Pompe disease (maltase acid deficiency without cardiomyopathy)
Outcome Measures
Primary Outcome Measures :
  1. 6-min walk test [ Time Frame: Day 1 ]
    Walking distance during 6 minutes

  2. 6-min walk test [ Time Frame: Through study completion, an average of 1 year ]
    Walking distance during 6 minutes

  3. Forced vital capacity [ Time Frame: Day 1 ]
    Evaluation of respiratory function test

  4. Forced vital capacity [ Time Frame: Through study completion, an average of 1 year ]
    Evaluation of respiratory function test


Secondary Outcome Measures :
  1. Blood creatinine kinase level [ Time Frame: Day 1 ]
    Biological marker of Pompe disease

  2. Blood creatinine kinase level [ Time Frame: Through study completion, an average of 1 year ]
    Biological marker of Pompe disease

  3. ASAT [ Time Frame: Day 1 ]
    Biological markers of tPompe Disease

  4. ASAT [ Time Frame: Through study completion, an average of 1 year ]
    Biological markers of tPompe Disease

  5. ALAT [ Time Frame: Day 1 ]
    Biological markers of tPompe Disease

  6. ALAT [ Time Frame: Through study completion, an average of 1 year ]
    Biological markers of tPompe Disease


Eligibility Criteria
Layout table for eligibility information
Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
This study includes the patients who have Pompe disease documented by deficient alpha-glucosidase activity and/or DNA analysis and follow-up in the French referral centers. These patients must be younger than 18 years at diagnosis and not have the infantile form of Pompe disease. The children who have cardiomyopathy at diagnosis are excluded in order to take only juvenile form.
Criteria

Inclusion Criteria:

  • childhood Pompe disease (the first symptoms appear before 18 years old)
  • follow-up in France

Exclusion Criteria:

  • infantile Pompe disease
  • cardiomyopathy at diagnosis
Contacts and Locations

Contacts
Layout table for location contacts
Contact: Qiaoyan HUANG, Resident +33 383154541 Q.HUANG2@chru-nancy.fr

Locations
Layout table for location information
France
Children's Hospital - CHRU de Nancy Recruiting
Nancy, France, 54000
Contact: PERRETON, secretary    +33 383154615      
Sponsors and Collaborators
Central Hospital, Nancy, France
Investigators
Layout table for investigator information
Principal Investigator: François FEILLET, MD, PHD Children's Hospital - CHRU de Nancy, France
Tracking Information
First Submitted Date April 17, 2021
First Posted Date June 29, 2021
Last Update Posted Date July 7, 2021
Actual Study Start Date April 1, 2021
Actual Primary Completion Date June 30, 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 2, 2021)
  • 6-min walk test [ Time Frame: Day 1 ]
    Walking distance during 6 minutes
  • 6-min walk test [ Time Frame: Through study completion, an average of 1 year ]
    Walking distance during 6 minutes
  • Forced vital capacity [ Time Frame: Day 1 ]
    Evaluation of respiratory function test
  • Forced vital capacity [ Time Frame: Through study completion, an average of 1 year ]
    Evaluation of respiratory function test
Original Primary Outcome Measures
 (submitted: June 20, 2021)
  • 6-min walk test [ Time Frame: At diagnosis ]
    Walking distance during 6 minutes
  • 6-min walk test [ Time Frame: Through study completion, an average of 1 year ]
    Walking distance during 6 minutes
  • Forced vital capacity [ Time Frame: At diagnosis ]
    Evaluation of respiratory function test
  • Forced vital capacity [ Time Frame: Through study completion, an average of 1 year ]
    Evaluation of respiratory function test
Change History
Current Secondary Outcome Measures
 (submitted: July 2, 2021)
  • Blood creatinine kinase level [ Time Frame: Day 1 ]
    Biological marker of Pompe disease
  • Blood creatinine kinase level [ Time Frame: Through study completion, an average of 1 year ]
    Biological marker of Pompe disease
  • ASAT [ Time Frame: Day 1 ]
    Biological markers of tPompe Disease
  • ASAT [ Time Frame: Through study completion, an average of 1 year ]
    Biological markers of tPompe Disease
  • ALAT [ Time Frame: Day 1 ]
    Biological markers of tPompe Disease
  • ALAT [ Time Frame: Through study completion, an average of 1 year ]
    Biological markers of tPompe Disease
Original Secondary Outcome Measures
 (submitted: June 20, 2021)
  • Blood creatinine kinase level [ Time Frame: At diagnosis ]
    Biological marker of Pompe disease
  • Blood creatinine kinase level [ Time Frame: Through study completion, an average of 1 year ]
    Biological marker of Pompe disease
  • ASAT [ Time Frame: At diagnosis ]
    Biological markers of tPompe Disease
  • ASAT [ Time Frame: Through study completion, an average of 1 year ]
    Biological markers of tPompe Disease
  • ALAT [ Time Frame: At diagnosis ]
    Biological markers of tPompe Disease
  • ALAT [ Time Frame: Through study completion, an average of 1 year ]
    Biological markers of tPompe Disease
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease
Official Title Effect of Enzyme Replacement Therapy in Patients With Juvenile-Onset Pompe Disease: a Long-term Observational Study
Brief Summary

Pompe disease is known as glycogen storage disease type II, an autosomal recessive disease that results from acid alpha-glucosidase (GAA) deficiency leading to lysosomal glycogen accumulation. Patients with classic infantile form have less than 1% of enzyme activity, which explains severe impairment before one year with rapid death without treatment, while later-onset form shows progressive symptoms later in childhood (juvenile form) or adulthood (adult form).

Enzyme replacement therapy (ERT) consists of periodic intravenous infusion of missing GAA produced by the recombinant method. ERT improves significantly the cardiac function and the children's survival in classic infantile form. This therapy has been approved for all patients with Pompe's disease in the United States and the European Union since 2006, but its efficacy was not clear for patients with later-onset form. Recent studies show motor improvement in adult patients, but there is little published data for the juvenile form disease. A separate analysis of juvenile form is justified as patients are still in a developmental stage and show clinical symptoms early in life, may have more severe disease and a different response to ERT. The recommendation is no treatment in the absence of clinical symptoms, but the consensus does not stratify patients into juvenile- or adult-onset form. ERT is an expensive long-term therapy, and its administration every 2 weeks in the hospital is a great limitation for patients. Therefore, an evaluation of the treatment effect in patients with the juvenile form is necessary.
Detailed Description This study includes patients from several hospitals in france. The parameters allowing the evaluation of the respiratory and muscular function are collected.
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population This study includes the patients who have Pompe disease documented by deficient alpha-glucosidase activity and/or DNA analysis and follow-up in the French referral centers. These patients must be younger than 18 years at diagnosis and not have the infantile form of Pompe disease. The children who have cardiomyopathy at diagnosis are excluded in order to take only juvenile form.
Condition Pompe's Disease Juvenile Onset
Intervention Not Provided
Study Groups/Cohorts French patients with juvenile Pompe disease
We aim to include all French patients with juvenile Pompe disease (maltase acid deficiency without cardiomyopathy)
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: June 20, 2021) 		10
Original Estimated Enrollment Same as current
Estimated Study Completion Date July 30, 2021
Actual Primary Completion Date June 30, 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • childhood Pompe disease (the first symptoms appear before 18 years old)
  • follow-up in France

Exclusion Criteria:

  • infantile Pompe disease
  • cardiomyopathy at diagnosis
Sex/Gender
Sexes Eligible for Study: All
Ages up to 18 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Qiaoyan HUANG, Resident +33 383154541 Q.HUANG2@chru-nancy.fr
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT04942912
Other Study ID Numbers 2020PI280
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party FEILLET François, Central Hospital, Nancy, France
Study Sponsor Central Hospital, Nancy, France
Collaborators Not Provided
Investigators
Principal Investigator: François FEILLET, MD, PHD Children's Hospital - CHRU de Nancy, France
PRS Account Central Hospital, Nancy, France
Verification Date July 2021