Glycogen Storage Disease Type IIPhase 2NCT01656590
High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
A Phase 2 study testing High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding in people with Glycogen Storage Disease Type II, run by Columbia University at 1 site in United States.
Trial summary
The research protocol will be submitted for approval to the institutional review board of Columbia University Medical Center. An attempt will be made to recruit at least 6 juvenile patients between the ages of 8 and 17, preferably who are still ambulatory. Read more about this study
- Who is it for?
- Ages 8 to 17 years
- Conditions the study is for
- Glycogen Storage Disease Type II
- What is being tested?
- High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2012to Aug 2013
- Phase
- Phase 2
- 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 8 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Male or female, 8 to 17 years of age.
- Diagnosis of Pompe disease; either by enzyme deficiency of muscle biopsy specimen or skin fibroblast culture, or homozygous or compound heterozygous for GAA mutation.
- Muscle Function < grade 7 on Walton Scale.
- Women of reproductive age (> 15 years) agree to use reliable methods of contraception during the study, if sexually active
- Subject or legal representative is willing and able to provide written informed consent.
Who cannot join
- Any intercurrent condition that may preclude accurate interpretation of study data
- Obstructive pulmonary disease
- Invasive ventilatory support
- Noninvasive ventilatory support while awake and in an upright position
- History of QTc prolongation > 450 msec for males and > 470 msec for females
- Life expectancy < 1 year
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- History of allergy, sensitivity or any serious adverse reaction to rhGAA drug
- Pregnancy
- Current or recent drug or alcohol abuse.
- Treatment with another investigational drug within 60 days of study start
- Use of prohibited medication < 3 months prior to randomization
- Otherwise unsuitable for the study in the opinion of investigator
Trial locations and contacts
1 site in 1 country.
United States1 site
Columbia University Medical Center
New York, New York, 10032
About this study
Official title: High Protein Nutrition and Exercise Therapy (HPET) Plus Nocturnal Enteral Feeding (NEF) in Juvenile-onset Pompe Disease.
The research protocol will be submitted for approval to the institutional review board of Columbia University Medical Center. An attempt will be made to recruit at least 6 juvenile patients between the ages of 8 and 17, preferably who are still ambulatory.
Subjects meeting all eligibility criteria will undergo a full history and physical examination, including details of age of onset of symptoms, distribution and severity of muscle weakness, muscle function, pulmonary function, and nutritional status. Subjects will undergo an electrocardiogram (ECG), spirometry, muscule strength evaluation, exercise capacity, functional muscle tests, laboratory tests, and muscle biopsy. Quality of life will be assessed via SF 36 questionnaire. Functional ability and level of handicap will be assessed by Rotterdam handicap scale. Written informed consent will be obtained from all subjects.
Read more
All patients, who will have received enzyme replacement therapy (ERT) for at least 2 years, will be evaluated prior to institution of high protein nutrition and exercise therapy plus nocturnal enteral feeding (HPET + NEF)(baseline), then again at 3 months, 6 months and 12 months into treatment. The following parameters will be evaluated-
- Skeletal Muscle Function
- Biochemical parameters from collected blood sample Muscle Biopsy will be obtained at baseline and at 12 months. Biopsy specimens, obtained from thigh muscle at baseline and a repeat biopsy of the corresponding area of the other leg at 12 months, will be analyzed as follows:.
- Histology and electron microscopy
- Autophagic and lysosomal function evaluation
- Body composition Body mass index (BMI), body composition, lean body mass, and fat mass will be measured at each visit by bioelectric impedance analysis using BI-101Q RJL Systems, software 3.1b
- Conditions
- Glycogen Storage Disease Type II
- Being tested
- High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
- Keywords
- Pompe disease, Acid Maltase Deficiency
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
High Protein and Exercise Therapy along-with Nocturnal Enteral FeedingOther
- High Protein and Moderate Carbohydrate Nutrition designed by our nutritionist for every patient based on his/her nutrition requirements, age \& gender
- 500 cc Formula - Nutren Replete with Fiber overnight [8 hours] via gastrostomy tube
- Conditioning Exercise once daily
| Study group | Role | What they receive |
|---|---|---|
| High Protein and Exercise therapy along-with Nocturnal Enteral | Other | Not described Receives: Other: High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in muscle function
Gross muscle function will be measured by the Walton Scale, the Timed Muscle Function Test and the Six-Minute Walk. Muscle strength will be measured by hand held dynamometer. Functional ability will be assessed by Rotterdam 9-item Handicap Scale.
Measured: Baseline, 12 months
Secondary outcomes (1)
Change in pulmonary function (Vital capacity, forced expiration volume)
The Pulmonary Function Test will be used to measure vital capacity (VC) and forced expiration volume (FEV1) to assess pulmonary function in sitting and supine positions.
Measured: Baseline, 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Aug 2012 (estimated)
- Study startOct 2012
- Primary completionAug 2013
- Study completionAug 2013
Why it stopped: PI left the institution
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glycogen Storage Disease Type IIStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe 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
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Alfred E Slonim, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01656590
- Sponsor's protocol ID
- AAAJ7305
- Status last verified
- Apr 2015
- First submitted
- 1 Aug 2012
- Last updated
- 13 Apr 2015
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- High Protein Nutrition and Exercise Therapy (HPET) Plus Nocturnal Enteral Feeding (NEF) in Juvenile-onset Pompe Disease.
- ClinicalTrials.gov ID
- NCT01656590
- Acronym / sponsor ID
- AAAJ7305
- Conditions
- Glycogen Storage Disease Type II
- Keywords
- Pompe disease, Acid Maltase Deficiency
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- WithdrawnReason stopped: PI left the institution
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Study start
- Oct 2012
- Primary completion
- Aug 2013 (actual)
- Study completion
- Aug 2013 (actual)
- First posted
- 3 Aug 2012 (estimated)
- 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.
The research protocol will be submitted for approval to the institutional review board of Columbia University Medical Center. An attempt will be made to recruit at least 6 juvenile patients between the ages of 8 and 17, preferably who are still ambulatory.
Subjects meeting all eligibility criteria will undergo a full history and physical examination, including details of age of onset of symptoms, distribution and severity of muscle weakness, muscle function, pulmonary function, and nutritional status. Subjects will undergo an electrocardiogram (ECG), spirometry, muscule strength evaluation, exercise capacity, functional muscle tests, laboratory tests, and muscle biopsy. Quality of life will be assessed via SF 36 questionnaire. Functional ability and level of handicap will be assessed by Rotterdam handicap scale. Written informed consent will be obtained from all subjects.
All patients, who will have received enzyme replacement therapy (ERT) for at least 2 years, will be evaluated prior to institution of high protein nutrition and exercise therapy plus nocturnal enteral feeding (HPET + NEF)(baseline), then again at 3 months, 6 months and 12 months into treatment. The following parameters will be evaluated-
- Skeletal Muscle Function
- Biochemical parameters from collected blood sample Muscle Biopsy will be obtained at baseline and at 12 months. Biopsy specimens, obtained from thigh muscle at baseline and a repeat biopsy of the corresponding area of the other leg at 12 months, will be analyzed as follows:.
- Histology and electron microscopy
- Autophagic and lysosomal function evaluation
- Body composition Body mass index (BMI), body composition, lean body mass, and fat mass will be measured at each visit by bioelectric impedance analysis using BI-101Q RJL Systems, software 3.1b
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| High Protein and Exercise therapy along-with Nocturnal Enteral | Other | Other: High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding |
Who may qualify
- Ages
- 8 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- Male or female, 8 to 17 years of age.
- Diagnosis of Pompe disease; either by enzyme deficiency of muscle biopsy specimen or skin fibroblast culture, or homozygous or compound heterozygous for GAA mutation.
- Muscle Function < grade 7 on Walton Scale.
- Women of reproductive age (> 15 years) agree to use reliable methods of contraception during the study, if sexually active
- Subject or legal representative is willing and able to provide written informed consent.
Key exclusion criteria (12 listed)
- Any intercurrent condition that may preclude accurate interpretation of study data
- Obstructive pulmonary disease
- Invasive ventilatory support
- Noninvasive ventilatory support while awake and in an upright position
- History of QTc prolongation > 450 msec for males and > 470 msec for females
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding1. High Protein and Moderate Carbohydrate Nutrition designed by our nutritionist for every patient based on his/her nutrition requirements, age \& gender 2. 500 cc Formula - Nutren Replete with Fiber overnight [8 hours] via gastrostomy tube 3. Conditioning Exercise once daily | Other | High Protein and Exercise therapy along-with Nocturnal Enteral |
Primary outcome
Change in muscle function
Time frame: Baseline, 12 months
Gross muscle function will be measured by the Walton Scale, the Timed Muscle Function Test and the Six-Minute Walk. Muscle strength will be measured by hand held dynamometer. Functional ability will be assessed by Rotterdam 9-item Handicap Scale.
1 secondary outcome
Change in pulmonary function (Vital capacity, forced expiration volume)
Time frame: Baseline, 12 months
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2015.
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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.
Alfred E Slonim, MD principal investigator
Columbia University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding in people with Glycogen Storage Disease Type II, run by Columbia University at 1 site in United States.
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 5 inclusion and 12 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: withdrawn, as of the sponsor's last update on 13 Apr 2015. 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 United States. 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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in muscle function (time frame: Baseline, 12 months). 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 13 Apr 2015.