High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease
| Status: | Completed |
|---|---|
| Conditions: | Endocrine, Diabetes |
| Therapuetic Areas: | Endocrinology |
| Healthy: | No |
| Age Range: | 8 - 17 |
| Updated: | 3/16/2015 |
| Start Date: | September 2012 |
| End Date: | June 2014 |
| Contact: | Alfred E Slonim, MD |
| Email: | as2718@columbia.edu |
| Phone: | 212-305-5717 |
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.
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
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
Inclusion Criteria:
1. Male or female, 8 to 17 years of age.
2. Diagnosis of Pompe disease; either by enzyme deficiency of muscle biopsy specimen or
skin fibroblast culture, or homozygous or compound heterozygous for GAA mutation.
3. Muscle Function < grade 7 on Walton Scale.
4. Women of reproductive age (> 15 years) agree to use reliable methods of contraception
during the study, if sexually active
5. Subject or legal representative is willing and able to provide written informed
consent.
Exclusion Criteria:
1. Any intercurrent condition that may preclude accurate interpretation of study data
2. Obstructive pulmonary disease
3. Invasive ventilatory support
4. Noninvasive ventilatory support while awake and in an upright position
5. History of QTc prolongation > 450 msec for males and > 470 msec for females
6. Life expectancy < 1 year
7. History of allergy, sensitivity or any serious adverse reaction to rhGAA drug
8. Pregnancy
9. Current or recent drug or alcohol abuse.
10. Treatment with another investigational drug within 60 days of study start
11. Use of prohibited medication < 3 months prior to randomization
12. Otherwise unsuitable for the study in the opinion of investigator
We found this trial at
1
site
Columbia University Medical Center Situated on a 20-acre campus in Northern Manhattan and accounting for...
Click here to add this to my saved trials
