1 - The Ethics of Preventing and Treating Spinal Muscular Atrophy in a Developing Country: A Colombian Experience Between Clinical Research and Medical Attention

Background:  Spinal muscular atrophy (SMA) is infant mortality's most common genetic cause. Pharmacological treatment is available: two medications based on Antisense oligonucleotides (ASO) and one based on Gene therapy (GT). In Colombia, few medical centers handle SMA. The same hospitals that currently treat patients are the ones with SMA clinical trials.

Methods:  Based on the authors' experience with SMA patients, we identify critical ethical challenges of concurrent scenarios: innovative therapeutics, costs of these medications, availability of treatment with health care system reimbursement, clinical trials, and the urgent necessity of treating patients.

Conclusion: The physician that is involved in treating SMA is also working in clinical trials, facing ethical dilemmas:
1) The high cost of ASO and difficulties with reimbursement can be overcome by recruiting patients to clinical trials
2) Since ASO is the only treatment available in the country, offering gene therapy in a possibility of treatment, although in the clinical trials context
3) There is no cost for patients participation in clinical trials; however, the uncertainty of the local health care systems doesn't guarantee adequate clinical treatment and follow up once the clinical trials end
4) One single dose of gene therapy is an advantage over the continuous uses of intrathecal and oral ASO, however, clinical follow up is essential
5) Early treatment is essential in SMA, balancing tread offs of urgency to treat vs. the availability of treatments coming from the health care system vs. clinical trials involve hard to take decisions.
6) Molecular genetic testing is available and reimbursed by the health care system; therefore, SMA carrier detection is also improving, and selection against disability and pregnancy interruption is present under innovative treatments and clinical trials.
Patients require support to explore these options. Clinicians must ensure access to relevant information about treatment options when working effectively with families before and after diagnostic tests. Involving existing SMA patients in discussions and providing patient-centered care is essential. Policy provider restrictions for medication access can include age, type of SMA, and patient location. Clinical trials can be considered as a treatment option for specific SMA patients.

Limitations: We explore and analyze the present concepts under our own experience; bias and preconceptions can play a role in decision-making; however, clinical trials are approved and observed for the local IRB, and our current clinical care is also updated with current clinical guidelines and multidisciplinary care is always offered to patients, therefore the decision making is a process that involves several stakeholders and other health care professionals.

Discussion:  Decision-making considering clinical care and clinical trial enrollment, deserve special planning and case-to-case exhaustive analysis. A clinical trial is possible when access to another treatment option is not a choice, especially when the clinical indication points to treatments not currently available in the country; however, a clinical trial is not clinical or medical care, and it doesn't replace the health care system. Patients and families must know all information beforehand, including the long-term limitations of clinical trials.