This analysis aims to describe the outcomes of two nonambulatory patients with Duchenne muscular dystrophy (DMD) who participated in two clinical studies. The two consecutive trials of eteplirsen (studies 201 and 202) were conducted in patients with DMD (N = 12) and confirmed genetic mutations amenable to exon 51 skipping. In study 201, 12 patients were randomized to receive once-weekly, double-blind intravenous infusions of eteplirsen 30 or 50 mg/kg or placebo for 24 weeks; patients then received open-label eteplirsen during weeks 25 through 28. All 12 patients continued onto open-label extension study 202 and received long-term treatment with eteplirsen. We compared cardiac, pulmonary, and upper limb function and dystrophin production in the nonambulatory twin patients versus the 10 ambulatory patients through 240 combined treatment weeks. Ten study patients remained ambulatory through both studies, while the identical twin patients both experienced early, rapid loss of ambulation. The twin patients had greater disease severity at baseline (6-minute walk test [6MWT], 330 and 256 m) versus the other patients (n = 10; 6MWT range, 341–418 m). They maintained cardiac and upper limb function through combined week 240, with outcomes similar to those of the patients who remained ambulatory. Dystrophin production was confirmed following eteplirsen treatment. Despite the loss of ambulation, other markers of disease progression remained relatively stable in the eteplirsen-treated twin patients and were similar to those of the ambulatory patients.

Placental blood was harvested using a novel collection system into packs containing citrate-phosphate-dextroseadenine and then stored for 28 d. Before and during storage, sterility, adequacy of anticoagulation, blood chemistry, and red cell viability were assessed weekly. The average volume of blood collected was 65 mL (range 30-110 mL) with a 0.42 hemocrit once diluted in anticoagulant. All blood culture specimens were sterile at collection and during storage. In the United States, more than 40 000 VLBW infants are born each year, many of whom are critically ill and require care in neonatal intensive care facilities. The majority of these infants will require one or more homologous blood transfusions during the first month of life. These transfusions are given to replace losses due to diagnostic sampling and to treat the physiologic decline in H b concentration designated the anemia of prematurity (1-3). Studies have shown that VLBW infants will receive approximately 50 mL of blood per kg from as many as eight to 10 adult donors during the first month of life (1, 3, 4). However, recent data suggest that changes in transfusion practices for neonates may reduce donor exposure (5, 6). Although red cell transfusion is a valuable part of care, the use of adult donor blood poses risks for these infants including the transmission of viral agents such as non-A and non-B hepatitis, cytomegalovirus, and human immunodeficiency virus (1,7,8). Furthermore, graft versus host disease has been reported after homologous transfusions in neonates (8-1 1). were >90 s, presumably because of the decline in labile clotting factors after 24 h of storage. Hematocrit, red cell ATP, and red cell shape were maintained during storage. As expected, red cell 2,3-diphosphoglycerate declined and potassium levels rose significantly but were not different than levels reported for adult cells similarly preserved. Based on our results, it appears that placental blood represents a potential source of autologous transfusion for the sick neonate over the first month of life. (Pediatr Res 36: W94, 1994)

Cord blood transplantation has been used extensively in the allogeneic setting for acquired and genetic disorders of hematopoiesis. There is less experience in the utility of autologous cord blood transplantation, and there is great controversy about the role of autologous cord blood collection and storage. We report on the successful use of autologous cord blood transplantation for the treatment of severe aplastic anemia following fulminant hepatic failure and living related liver transplantation.

Chicken pox, although common, is rarely associated with autoimmune hemolytic anemia. Reported here is the case of an 8-year-old boy who was found to have cold agglutinin disease and severe anemia several days after he contracted chicken pox. The cold agglutinin appeared to be a polyclonal immunoglobulin M antibody with anti-Pr specificity. To our knowledge, this is the fifth reported case of autoimmune hemolytic anemia and the second reported case of cold agglutinin disease with anti-Pr specificity to be associated with chicken pox.