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High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01656590
Recruitment Status : Withdrawn (PI left the institution)
First Posted : August 3, 2012
Last Update Posted : April 13, 2015
Information provided by (Responsible Party):
Columbia University

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

Condition or disease Intervention/treatment Phase
Glycogen Storage Disease Type II Other: High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding Phase 2

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 0 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: High Protein Nutrition and Exercise Therapy (HPET) Plus Nocturnal Enteral Feeding (NEF) in Juvenile-onset Pompe Disease.
Study Start Date : October 2012
Actual Primary Completion Date : August 2013
Actual Study Completion Date : August 2013

Arm Intervention/treatment
High Protein and Exercise therapy along-with Nocturnal Enteral Other: High Protein and Exercise Therapy along-with Nocturnal Enteral Feeding
  1. 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

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. Change in pulmonary function (Vital capacity, forced expiration volume) [ Time Frame: Baseline, 12 months ]
    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.

Information from the National Library of Medicine

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Ages Eligible for Study:   8 Years to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01656590

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United States, New York
Columbia University Medical Center
New York, New York, United States, 10032
Sponsors and Collaborators
Columbia University
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Principal Investigator: Alfred E Slonim, MD Columbia University

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Responsible Party: Columbia University Identifier: NCT01656590    
Other Study ID Numbers: AAAJ7305
First Posted: August 3, 2012    Key Record Dates
Last Update Posted: April 13, 2015
Last Verified: April 2015
Keywords provided by Columbia University:
Pompe disease
Acid Maltase Deficiency
Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Glycogen Storage Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors