This is an editorial on the article by Drs. Hnaini et al. in this month’s issue of Pediatric Pulmonology reporting respiratory data in patients with Duchernne muscular dystrophy from a large, real-world database– The Canadian Neuromuscular Disease Registry (CNDR).

The current system for disclosing financial conflicts of interest (COIs) can be traced back to the “Uniform requirements for manuscripts submitted to medical journals,” published in 1997. Meanwhile, new molecular and genetic therapies are transforming clinical medicine and these therapies have radically altered the financial landscape of drug development. The average price of new drugs has risen sharply, and in niche areas like rare diseases, the cost of new therapies can be stratospheric. Now, even rare or “orphan” diseases are funded by private investment. With high profitability, there is a new pathway for drug development involving unprecedented ties between industry and academia. The potential for COIs has greatly expanded and decisions that were once science-driven have become profit-driven. As a result, the risk that marginally effective, ineffective and even hazardous treatments will make their way to patients has greatly increased. In this editorial, we propose a system built on process-based COIs. This new system would trace the developmental journey of a drug from the lab to patients. All financial ties that institutions and individuals have to the drug would be disclosed at each developmental step. The goal would be to create a healthy skepticism and debate over the studies behind new drugs, restoring a scientific focus to the assessment of drug efficacy. When society’s limited resources are used to pay for drugs whose excessive cost primarily benefits investors and corporations, it derails scientific objectivity, harms patients, and threatens the financial stability of our health care systems.

Neuromuscular medicine is being revolutionized by new genetic and molecular therapies. The purpose of this Special Issue is to present an overview of these new therapies, to examine their cardiopulmonary effects, and to consider the future of neuromuscular cardiopulmonary care. The emphasis will be on Duchenne muscular dystrophy (DMD) and, to a lesser extent, spinal muscular atrophy (SMA), as these are the diseases with the most robust new drug development and related cardiopulmonary outcome data. This Special Issue contains articles on a number of relevant topics, including an overview of new genetic and molecular therapies for DMD, examining the currently available cardiopulmonary outcome data; and a critical examination of pulmonary outcome measures, assessing which outcomes should be used in treatment studies. We will provide an overview of cardiopulmonary phenotypic variability and discordance and their implications for assessing patient prognosis and response to therapies, and present a new perspective on neuromuscular-induced sleep-disordered breathing, viewed in the context of new and emerging therapies. Finally, we will consider which cardiac imaging modalities should be used as outcome measures in studies assessing DMD heart function, and take a look at novel therapeutic approaches to DMD heart disease, including management of rhythm disorders and heart failure, and the use of left ventricular assist devices.

Neuromuscular respiratory medicine has traditionally focused on mechanically assisted lung ventilation and mucus clearance. These therapies have prolonged survival for patients with Duchenne muscular dystrophy (DMD). However, the field is rapidly evolving in a new direction: it is being revolutionized by molecular and genetic therapies. A good correlation between a patient’s dystrophin mutation and his cardiopulmonary phenotype would allow accurate prediction of patient prognosis and would facilitate the design of studies that assess new DMD therapies. Instead, patient prognosis and the design of valid therapeutic studies are complicated by cardiopulmonary phenotypic discordance and variability, by which a notable proportion of DMD patients have unexpectedly good or poor cardiopulmonary function. The likely cause of phenotypic variability and discordance is genetic modifiers. Once the modifiers that affect cardiopulmonary function are better understood, it should be possible to create a personalized genetic profile that accurately predicts the prognosis of each individual DMD patient. This would allow investigators to assess the effect of new therapies in the context of each patient’s particular cardiopulmonary natural history. Amplification of beneficial cardiopulmonary genetic modifiers and blocking of detrimental modifiers is a promising strategy for creating new DMD therapies. When patients with chronic respiratory failure are treated with assisted ventilation, cardiac function determines their survival. Therefore, prioritizing new cardiac therapies is most likely to prolong patient survival. By focusing on these topics we aim to move neuromuscular respiratory medicine beyond assisted ventilation and coughing and into the age of translational medicine.