Roche Pakistan is currently providing Risdiplam under Compassionate Use (CU) program for patients who have been diagnosed with Type 1 or 2 Spinal Muscular Atrophy (SMA), and who fulfil the eligibility criteria for this Single Case Patient Profile CU Program (SC PP CU). This SC PP CU Program is not a clinical trial, but the provision of an unauthorized medicinal product (UMP) is based on prior physician and/or HA request, and thus is a medical treatment under the individual physician’s responsibility. It is not aimed at determining the efficacy or safety profile of the medicinal product. However, adverse events will need to be reported by the treating physician to Roche

Currently, Roche is only offering this Compassionate Use Program to SMA-1, the program will be open to SMA-2 in September to October 2020.

Following are the inclusion & Inclusion Criteria for the patients to participate in the program:

Inclusion Criteria

  *   Infants aged≥ 2 months at enrollment (for preterm infants this is the corrected age)
  *   Confirmed diagnosis of 5q autosomal recessive SMA including genetic confirmation of homozygous deletion or compound heterozygosity predictive of loss of function of the SMN1 gene.
  *   Clinical history, signs or symptoms attributable to Type 1 or Type 2 SMA
  *   Patients with retinopathy of prematurity should have evidence of stable disease
  *   Patients (from countries where nusinersen/ onasemnogene abeparvovec-xioi are available) who are not eligible/cannot continue treatment with such medications as documented by the treating physician, either due to 1) a medical condition that precludes intrathecal administration (e.g. severe scoliosis, high sedation risk, including interruption of administration of existing therapy (nusinersen) due to COVID-19 pandemic) or gene therapy, including lack of eligibility due to the COVID-19 pandemic, or 2) the patient is at risk of loss of efficacy in the treating clinicians opinion, including reasons due to interruption of IT administration of nusinersen because of the COVID-19 pandemic.
  *   In the case of interruption of administration of IT nusinersen because of the COVID-19 pandemic, mitigation strategies related to IT administration should be explored first.  If such strategies are not possible or adequate, risdiplam could be considered.  The final decision to include a patient should this situation arise, as with other PAA/CUP decisions, rests with the treating physician.
  *   Patients who have no available adequate SMA treatment therapy (countries where nusinersen and onasemnogene abeparvovec-xioi are not accessible).
  *   The patient does not qualify for and has no access to risdiplam or any other SMA treatment in the context of an ongoing clinical trial.
  *   Negative pregnancy test (female patients of childbearing potential) and will use highly effective contraception whilst on risdiplam therapy and for at least one month after the last dose. If male and of reproductive age will use highly effective contraception whilst on risdiplam therapy and for at least four months after the last dose of risdiplam.

Exclusion Criteria

  *   Confirmed or suspected hypersensitivity (e.g. anaphylactic reaction) to risdiplam or to the constituents of its formulation.
  *   Any serious medical condition or treatment, that, in the treating physician’s judgment, precludes the patient’s safe participation in the program.
  *   Administration of maintenance dose Spinraza (nusinersen) or other SMN-2 targeting therapy within the last 120 days
  *   Administration of Zolgensma (onasemnogene abeparvovec-xioi) within the last 3 months (12 weeks) of receiving risdiplam. Patients should have been tapered off steroids prior to receiving risdiplam. In addition, patients should have normal levels of liver function tests, coagulatory parameters, platelets and troponin-I at 3 months (12 weeks) after administration of Zolgensma or at least 1 month after tapering off corticosteroids whichever comes last.

 If you meet the eligibility criteria and are interested in participating in the program, contact your neurologist or make an appointment with Dr. Sara Khan at AKU Karachi.