Pompe's Disease Juvenile OnsetNCT04942912
Effect of Enzyme Replacement Therapy in Patients With Juvenile-onset Pompe Disease
An observational study of Pompe's Disease Juvenile Onset, run by Central Hospital, Nancy, France at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Pompe's Disease Juvenile Onset
- How many people
- 10 participants
- Where
- 1 siteFrance
- Study dates
- 1 Apr 2021to 30 Jul 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- childhood Pompe disease (the first symptoms appear before 18 years old)
- follow-up in France
Who cannot join
- infantile Pompe disease
- cardiomyopathy at diagnosis
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Children's Hospital - CHRU de Nancy
Nancy, 54000
PERRETON, secretary, +33 383154615
About this study
Official title: Effect of Enzyme Replacement Therapy in Patients With Juvenile-Onset Pompe Disease: a Long-term Observational Study
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.
Read the detailed description
This study includes patients from several hospitals in france. The parameters allowing the evaluation of the respiratory and muscular function are collected.
- Conditions
- Pompe's Disease Juvenile Onset
- Keywords
- no cardiomyopathy at diagnosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| French patients with juvenile Pompe disease | We aim to include all French patients with juvenile Pompe disease (maltase acid deficiency without cardiomyopathy) |
What is being measured
The primary outcome is the main question the study is designed to answer.
6-min walk test
Walking distance during 6 minutes
Measured: Day 1
6-min walk test
Walking distance during 6 minutes
Measured: Through study completion, an average of 1 year
Forced vital capacity
Evaluation of respiratory function test
Measured: Day 1
Forced vital capacity
Evaluation of respiratory function test
Measured: Through study completion, an average of 1 year
Secondary outcomes (6)
Blood creatinine kinase level
Biological marker of Pompe disease
Measured: Day 1
Blood creatinine kinase level
Biological marker of Pompe disease
Measured: Through study completion, an average of 1 year
ASAT
Biological markers of tPompe Disease
Measured: Day 1
ASAT
Biological markers of tPompe Disease
Measured: Through study completion, an average of 1 year
ALAT
Biological markers of tPompe Disease
Measured: Day 1
ALAT
Biological markers of tPompe Disease
Measured: Through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jun 2021
- Study start1 Apr 2021
- Primary completion30 Jun 2021
- Study completion30 Jul 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe's Disease Juvenile OnsetStudies of the same condition, open and under way.
- More trials run by Central Hospital, Nancy, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Central Hospital, Nancy, France
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, FEILLET François, Central Hospital, Nancy, France
- Investigators
- François FEILLET, MD, PHD, Principal investigator, Children's Hospital - CHRU de Nancy, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04942912
- Sponsor's protocol ID
- 2020PI280
- Status last verified
- Jul 2021
- First submitted
- 17 Apr 2021
- Last updated
- 7 Jul 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Jul 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Effect of Enzyme Replacement Therapy in Patients With Juvenile-Onset Pompe Disease: a Long-term Observational Study
- ClinicalTrials.gov ID
- NCT04942912
- Acronym / sponsor ID
- 2020PI280
- Conditions
- Pompe's Disease Juvenile Onset
- Keywords
- no cardiomyopathy at diagnosis
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Central Hospital, Nancy, FranceUniversity, hospital or other
- Study start
- 1 Apr 2021 (actual)
- Primary completion
- 30 Jun 2021 (actual)
- Study completion
- 30 Jul 2021 (estimated)
- First posted
- 29 Jun 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| French patients with juvenile Pompe disease | – | –We aim to include all French patients with juvenile Pompe disease (maltase acid deficiency without cardiomyopathy) |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (2 listed)
- childhood Pompe disease (the first symptoms appear before 18 years old)
- follow-up in France
Key exclusion criteria (2 listed)
- infantile Pompe disease
- cardiomyopathy at diagnosis
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
6 secondary outcomes
Blood creatinine kinase level
Time frame: Day 1
Blood creatinine kinase level
Time frame: Through study completion, an average of 1 year
ASAT
Time frame: Day 1
ASAT
Time frame: Through study completion, an average of 1 year
ALAT
Time frame: Day 1
ALAT
Time frame: Through study completion, an average of 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Jul 2021.
Related trials for Pompe's Disease Juvenile Onset
Active, not recruitingPhase 4
Safety and Efficacy of Avalglucosidase Alfa in Patients With Non-classic Pompe Disease Aged ≥ 5 Years
Glycogen Storage Disease Type II Late Onset, Pompe Disease (Late-onset)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
François FEILLET, MD, PHD principal investigator
Children's Hospital - CHRU de Nancy, France
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe's Disease Juvenile Onset, run by Central Hospital, Nancy, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 7 Jul 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Qiaoyan HUANG, Resident (+33 383154541, Q.HUANG2@chru-nancy.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
6-min walk test (time frame: Day 1). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Jul 2021.