High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
Primary Purpose
Glycogen Storage Disease Type II
Status
Withdrawn
Phase
Phase 2
Locations
United States
Study Type
Interventional
Intervention
High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
Sponsored by
About this trial
This is an interventional treatment trial for Glycogen Storage Disease Type II focused on measuring Pompe disease, Acid Maltase Deficiency
Eligibility Criteria
Inclusion Criteria:
- 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.
Exclusion Criteria:
- 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
- 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
Sites / Locations
- Columbia University Medical Center
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
High Protein and Exercise therapy along-with Nocturnal Enteral
Arm Description
Outcomes
Primary Outcome Measures
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.
Secondary Outcome Measures
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.
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT01656590
Brief Title
High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
Official Title
High Protein Nutrition and Exercise Therapy (HPET) Plus Nocturnal Enteral Feeding (NEF) in Juvenile-onset Pompe Disease.
Study Type
Interventional
2. Study Status
Record Verification Date
April 2015
Overall Recruitment Status
Withdrawn
Why Stopped
PI left the institution
Study Start Date
October 2012 (undefined)
Primary Completion Date
August 2013 (Actual)
Study Completion Date
August 2013 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Columbia University
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief 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.
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
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Glycogen Storage Disease Type II
Keywords
Pompe disease, Acid Maltase Deficiency
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
0 (Actual)
8. Arms, Groups, and Interventions
Arm Title
High Protein and Exercise therapy along-with Nocturnal Enteral
Arm Type
Other
Intervention Type
Other
Intervention Name(s)
High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
Intervention Description
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
Primary Outcome Measure Information:
Title
Change in muscle function
Description
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.
Time Frame
Baseline, 12 months
Secondary Outcome Measure Information:
Title
Change in pulmonary function (Vital capacity, forced expiration volume)
Description
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.
Time Frame
Baseline, 12 months
10. Eligibility
Sex
All
Minimum Age & Unit of Time
8 Years
Maximum Age & Unit of Time
17 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
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.
Exclusion Criteria:
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
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Alfred E Slonim, MD
Organizational Affiliation
Columbia University
Official's Role
Principal Investigator
Facility Information:
Facility Name
Columbia University Medical Center
City
New York
State/Province
New York
ZIP/Postal Code
10032
Country
United States
12. IPD Sharing Statement
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High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
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