THERAPEUTIC TRIALS IN THE INBORN ERRORS
An Attempt To Modify Hurler's Syndrome
Allen C. Crocker M.D.1
1 Children's Hospital, Medical Center, 300 Longwood Avenue, Boston, Massachusetts 02115
Like the policeman's lot, that of the therapist for syndromes with inborn errors of metabolism is usually not a happy one. In these circumscribed human experiments the pitfalls are manifold.1 This is especially true when the affected biochemical element is involved in the structure of the central nervous system and with the handicap expressed early in development (for example, disturbances of glycolipid, phospholipid, or mucopolysaccharide metabolism). For any theoretically useful therapeutic trial to be launched, four criteria must be met: (1) diagnosis should be established in very early life (? newborn period, or earlier), preferably utilizing both laboratory and clinical evidence; (2) direct scientific pertitience should exist relative to the selection of the agent for the trial; (3) the program of therapy should be technically simple enough, and sufficiently free of noxious side effects, that relatively bugterm employment is possible; and (4) there should be available several discrete markers of the altered metabolism of the syndrome, which can be used in efforts at quantitation of the effects of the plan.
