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

This study is not yet open for participant recruitment.
Verified August 2012 by Columbia University
Sponsor:
Information provided by (Responsible Party):
Alfred E. Slonim, Columbia University
ClinicalTrials.gov Identifier:
NCT01656590
First received: August 1, 2012
Last updated: August 2, 2012
Last verified: August 2012
History of Changes
  Purpose

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

Study Type: Interventional
Study Design: Endpoint Classification: Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: High Protein Nutrition and Exercise Therapy (HPET) Plus Nocturnal Enteral Feeding (NEF) in Juvenile-onset Pompe Disease.

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Columbia University:

Primary Outcome Measures:
  • Change in muscle function [ Time Frame: Baseline, 12 months ] [ Designated as safety issue: No ]
    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) [ Time Frame: Baseline, 12 months ] [ Designated as safety issue: No ]
    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.


Estimated Enrollment: 6
Study Start Date: September 2012
Estimated Study Completion Date: June 2014
Estimated Primary Completion Date: March 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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

  Eligibility

Ages Eligible for Study:   8 Years to 17 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01656590

Contacts
Contact: Alfred E Slonim, MD 212-305-5717 as2718@columbia.edu

Locations
United States, New York
Columbia University Medical Center Not yet recruiting
New York, New York, United States, 10032
Contact: Alfred E Slonim, MD     212-305-5717     as2718@columbia.edu    
Sponsors and Collaborators
Columbia University
Investigators
Principal Investigator: Alfred E Slonim, MD Columbia University
  More Information

No publications provided

Responsible Party: Alfred E. Slonim, Professor of Pediatrics, Molecular Genetics, Columbia University
ClinicalTrials.gov Identifier: NCT01656590     History of Changes
Other Study ID Numbers: AAAJ7305
Study First Received: August 1, 2012
Last Updated: August 2, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Columbia University:
Pompe disease
Acid Maltase Deficiency

Additional relevant MeSH terms:
Glycogen Storage Disease
Glycogen Storage Disease Type II
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Lysosomal Storage Diseases, Nervous System
 Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Lysosomal Storage Diseases

ClinicalTrials.gov processed this record on June 17, 2013