Gastrointestinal Dysfunction in Children Affected With Mitochondrial Disorders

NCT01137240 | Completed DMC

• 1 other identifier: HSC-MS-10-0016
• Study Type: observational
• Target: 26
• Locations: 1 country
• Sites: 1

Brief Summary

Hypothesis: Many patients with underlying mitochondrial disorders have feeding problems because of poor gastrointestinal motility; feeding problems lead to growth impairment and many affected children are malnourished.

Conditions

Gastrointestinal Dysfunction; Mitochondrial Disorders

Keywords

subjects suffering from mitochondrial disorders with one or more gastrointestinal symptoms would be the focus of the study

Study Arms (1)

Children with mitochondrial disorders

suffering from gastrointestinal dysfunction

Procedure: gastric emptying scan

Interventions

gastric emptying scan PROCEDURE

subjects will eat a solid meal (scrambled eggs, etc) or drink liquid (water or juice) mixed with approximately 0.5 millicuries of radioactive material. A scanner/external gamma camera will be placed over the subject's stomach at 15 minute intervals for a duration of 90 minutes (monitoring the amount of radioactivity in the stomach). As the radioactively-labeled food empties from the stomach, the amount of radioactivity in the stomach decreases. The rate at which the radioactivity leaves the stomach reflects the rate at which food is emptying from the stomach. The radioisotope has a half life of approximately. 6 hours and is totally eliminated from the body within 24 hours. In subjects with gastroparesis, the food and the attached radioactive material remain in the stomach longer than normal (usually hours) before emptying into the small intestine. As a result, the scanner continues to show radioactivity in the area of the stomach for hours after the test meal.

Children with mitochondrial disorders

Eligibility Criteria

• Age: 3 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

children suffering form mitochondrial disorders.

You may qualify if:

• Parents/Guardians are informed and given written consent.
• Subject is willing and able to comply with all trial requirements
• Subject is over 3 years of age.
• Subject has a diagnosis of mitochondrial disorder validated by the modified Walker criteria used for diagnosis of mitochondrial diseases(9).
• A female subject in the age group of 11 yrs. or older is not pregnant as evidenced by a negative urine dipstick pregnancy test
• Subject to be enrolled has one or more of the following gastrointestinal signs and symptoms pertaining to gastrointestinal dysfunction like but not limited to abdominal pain, nausea, vomiting, bloating, indigestion, abdominal distention or sense of abdominal fullness.

You may not qualify if:

• Subject is currently having one or more gastrointestinal disease/disorder that is not explained by the current knowledge of mitochondrial diseases. For example, patients suffering from peptic ulcer disease or inflammatory bowel diseases will be excluded.
• Subject is a pregnant or a nursing female.

Sponsors & Collaborators

• The University of Texas Health Science Center, Houston: lead

Study Sites (1)

University of Texas- Houston Health Sceince Center

Houston, Texas, 77030, United States

Location

Related Publications (3)

• Koenig MK. Presentation and diagnosis of mitochondrial disorders in children. Pediatr Neurol. 2008 May;38(5):305-13. doi: 10.1016/j.pediatrneurol.2007.12.001.

  PMID: 18410845 BACKGROUND

• Gillis LA, Sokol RJ. Gastrointestinal manifestations of mitochondrial disease. Gastroenterol Clin North Am. 2003 Sep;32(3):789-817, v. doi: 10.1016/s0889-8553(03)00052-9.

  PMID: 14562575 BACKGROUND

• Nissenkorn A, Zeharia A, Lev D, Fatal-Valevski A, Barash V, Gutman A, Harel S, Lerman-Sagie T. Multiple presentation of mitochondrial disorders. Arch Dis Child. 1999 Sep;81(3):209-14. doi: 10.1136/adc.81.3.209.

  PMID: 10451392 BACKGROUND

MeSH Terms

Conditions

Mitochondrial Diseases

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Jatinder Bhardwaj, MD

  Privat Practice - Toledo, OH

  PRINCIPAL INVESTIGATOR

• Mary K Koenig, MD

  The University of Texas Medical School at Houston

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor - Pediatrics

Study Record Dates

• First Submitted: June 2, 2010
• First Posted: June 4, 2010
• Study Start: June 1, 2010
• Primary Completion: March 1, 2011
• Study Completion: March 1, 2011
• Last Updated: February 27, 2012

Record last verified: 2012-02

Locations

US (1)