Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243 A>G mutation.

OBJECTIVE: The aim of this study was to evaluate the effect of an individually tailored dietary intervention on personalized goals, body composition (BC), functioning, and quality of life (QoL) in adult patients with mitochondrial disease (MD) due to the m.3243 A>G mutation. METHODS: This explorative randomized controlled trial included 39 patients with MD. The intervention group (n = 20) received an individually tailored dietary intervention over a 6-mo period. The control group (n = 19) received standard care over a 6-mo timeframe (control period), followed by an individually tailored dietary intervention for the next 6 mo (intervention period). Nutritional assessment and QoL measurements were performed at 3-mo intervals. Personalized treatment goals of the patients with MD were evaluated at 3 and 6 mo during the dietary intervention. Achievement of the personalized goals was assessed using descriptive statistics and mixed models. Linear mixed models were used to test the effect of the dietary intervention on continuous outcomes. RESULTS: The personal goals of patients were significantly more frequently achieved in the intervention group than in the control group. After 3 mo of intervention, 57% of the goals were achieved. Most goals were achieved for BC, handgrip strength (HGS), and gastrointestinal complaints. Intervention increased HGS (P = 0.037), the vitality component of QoL (P = 0.026), and decreased the fatigue score (P = 0.024) after 3 mo of treatment. Effects did not seem to last after 3 mo, however. CONCLUSION: An individually tailored dietary intervention is promising to achieve personalized goals of patients with MD, especially with regard to BC, HGS, and gastrointestinal complaints. The intervention also improves QoL, and decreases fatigue.

Patients With Mitochondrial Disease Have an Inadequate Nutritional Intake.

BACKGROUND: Mitochondrial disease (MD) is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Malnutrition in patients with MD may lead to increased mitochondrial dysfunction, which may enhance already existing symptoms. The aim of this study was to investigate whether patients with MD have an insufficient or unbalanced food intake and to establish which nutrients and product groups are particularly compromised in this patient group. METHODS: In this observational, cross-sectional, retrospective study, sixty 3-day nutrition diaries of adult patients with MD were analyzed and compared with the Dutch recommended daily allowance and the Dutch National Food Consumption Survey (DNFCS). RESULTS: The intake of all macronutrients and micronutrients of patients with MD was significantly different from Dutch recommended daily allowance values with the exception of fat and iron. In particular, protein and calcium intake in patients with MD was significantly lower when compared with the DNFCS. Interindividual differences were high. Also, intake of fiber, sugars, saturated fat, and vitamin D differed from recommendations for the overall population. In comparison with DNFCS, the intake of dairy products and drinks was significant lower in patients. CONCLUSIONS: Our study demonstrates that many patients with MD have an inadequate diet. Specifically, intake of protein, calcium, dairy products, and fluids were low. Overall, eating a healthy diet seems as difficult for patients with MD as for the general population. Since interindividual differences are high, individual diet counseling is recommended for all adult patients with MD.

The selective estrogen receptor alpha agonist Org 37663 induces estrogenic effects but lacks antirheumatic activity: a phase IIa trial investigating efficacy and safety of Org 37663 in postmenopausal female rheumatoid arthritis patients receiving stable background methotrexate or sulfasalazine.

OBJECTIVE: Multiple lines of evidence suggest that sex hormones may play a role in the pathogenesis or clinical expression of rheumatoid arthritis (RA). Studies on the effects of exogenous estrogens in RA patients have yielded contradictory results. We undertook this study to determine the effects of the selective estrogen receptor alpha (ERalpha) agonist Org 37663 in patients with RA, in terms of both its estrogenic effects and its ability to ameliorate disease activity. METHODS: A 10-week, multicenter, randomized, double-blind, placebo-controlled, parallel group, dose-finding, proof-of-concept trial was initiated to obtain data on the efficacy and safety of Org 37663 in postmenopausal female patients with RA who were receiving background treatment with either methotrexate or sulfasalazine. Patients were randomized to receive placebo or Org 37663 at doses of 4 mg/day, 15 mg/day, or 50 mg/week. The primary efficacy variable was the Disease Activity Score in 28 joints (DAS28). RESULTS: Org 37663 induced a clear biologic, estrogenic response in several organ systems, including a dose-related increase in levels of sex hormone binding globulin. However, the DAS28 decreased similarly for all treatment groups including placebo, indicating lack of clinical efficacy of Org 37663 in this trial. CONCLUSION: The observed lack of clinical benefit in RA patients treated with an ERalpha agonist, in association with a clear biologic response to the study drug, provides evidence that a biologically relevant ERalpha-mediated estrogenic effect is not associated with a clinically relevant effect on RA symptoms and signs.