Clinical Trial: Clinical and Laboratory Study of Methylmalonic Acidemia

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational



Official Title: Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders

Brief Summary:

This study will evaluate patients with methylmalonic acidemia (MMA) to learn more about the genetic causes of the various types of this inherited metabolic disorder and the medical complications associated with it. People with MMA may have problems with learning and development and kidney malfunctioning. They can become seriously ill, sometimes with little warning. There is no cure for any MMA, but special diets and vitamin therapies are used for treatment.

Patients between 2 and 70 years of age with MMA may be eligible for this study. Participants are admitted to the NIH Clinical Center for 4-5 days each year for 5-10 years for the following tests and procedures:

  • Medical history, physical examination, eye examination
  • Consultations from dentists and specialists in the nervous system, digestive tract, endocrine, and kidney, as needed.
  • 24-hour urine collection to examine for methylmalonic acid, other acids, sugar, and proteins for measuring kidney function.
  • Blood test to assess liver and thyroid function, blood counts and blood chemistries, methylmalonic acid levels, and for genetic tests and basic research studies.
  • Blood test to measure growth hormone production. For this test, a very small amount of blood is collected overnight (every 20-30 minutes from 8:00 PM to 8:00 AM) through an intravenous catheter (plastic tube placed in a vein). The total amount of blood drawn is approximately 1 tablespoon. Patients who have stopped growing or whose weight does not permit collection of 1 tablespoon of blood do not undergo this procedure.
  • Frequent blood pressure measurements, including overnight monitoring