There is an urgent need for new therapeutic options to treat muscle cramps; however, no patient-reported measures exist that capture the entire cramp experience. We conducted a qualitative study to assess the experience of patients suffering muscle cramps, aiming to understand what factors determine the impact cramps have in patients’ lives to guide the development of a patient-centered outcome measure of cramp severity and impact.

We enrolled patients with cramps due to several etiologies, including motor neuron disease, pregnancy-induced cramps, cirrhosis and hemodialysis, and idiopathic and exercise-induced cramps. Patients participated in semistructured interviews about their experiences with muscle cramps and their responses were recorded and transcribed. Data were analyzed with content analysis using data saturation to determine the sample size. We subsequently developed a conceptual framework of cramp severity and overall cramp impact.

Ten patients were interviewed when data saturation was reached. The cramp experience was similar across disease and physiological states known to cause muscle cramps. The main themes that compose the overall cramp impact are cramp characteristics, sleep interference, daytime activities interference, and the effect on mental health.

This framework will be used to develop a patient-reported outcome of cramp severity and impact.

Lumbar puncture (LP) performed with the assistance of ultrasound (US) may improve success rate, with fewer puncture attempts and less pain.

To explore the utility of US-assisted LP in a neuromuscular clinic.

We performed a prospective, randomized, open-label study between May 2016 and January 2017. The primary outcome measure was LP success rate, and the secondary outcome measures included procedure time, number of attempts, and the levels of pain, anxiety, and satisfaction.

Lumbar puncture was performed in 40 consecutive patients. Ultrasound-assisted LP had a 100% success rate, compared with 85% (95% confidence interval: 58%-96%) without US assistance, although this difference failed to reach statistical significance. Ultrasound-assisted LP was associated with less pain and, also in patients >60 years of age, with fewer needle insertions. Both groups reported high satisfaction rates, regardless of the use of US.

Ultrasound-assisted LP has a high success rate and less pain than unassisted LP, and can be accomplished easily in the outpatient neuromuscular clinic setting equipped with US.

To determine the safety and tolerability of home-based intravenous immunoglobulin (IVIG) (Gamunex) as maintenance treatment in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in Canada.

We enrolled ten subjects with CIDP who had previously received IVIG in the hospital setting to receive the comparable IVIG dose (1-2 g/kg/month) in the home for six months. The patients were evaluated in the clinic at three months and at six months to evaluate their clinical status as well as the safety and tolerability of IVIG.

All subjects tolerated home-based IVIG treatment as maintenance treatment of CIDP. There were no serious adverse events related to IVIG. Subjects did experience “anticipated” IVIG events post-infusion such as headache and fatigue, which were managed with analgesics and supportive counseling. One subject withdrew consent at end of study due to hospitalization. This event was not related to the IVIG. Another subject experienced a “flare” of CIDP symptoms near the end of the study, however, completed all visits as per protocol. All subjects expressed excellent satisfaction with the individualized therapy, and almost all (nine out of ten) patients preferred home-infusion to hospital-infusion.

Intravenous immunoglobulin can be delivered safely and is well tolerated outside the hospital setting in Canada in patients with chronic, stable neuromuscular conditions such as CIDP who have previously tolerated IVIG in the hospital medical day Care Unit.

Patient registries represent an important method of organizing “real world” patient information for clinical and research purposes. Registries can facilitate clinical trial planning and recruitment and are particularly useful in this regard for uncommon and rare diseases. Neuromuscular diseases (NMDs) are individually rare but in aggregate have a significant prevalence. In Canada, information on NMDs is lacking. Barriers to performing Canadian multicentre NMD research exist which can be overcome by a comprehensive and collaborative NMD registry.

We describe the objectives, design, feasibility and initial recruitment results for the Canadian Neuromuscular Disease Registry (CNDR).

The CNDR is a clinic-based registry which launched nationally in June 2011, incorporates paediatric and adult neuromuscular clinics in British Columbia, Alberta, Ontario, Quebec, New Brunswick and Nova Scotia and, as of December 2012, has recruited 1161 patients from 12 provinces and territories. Complete medical datasets have been captured on 460 “index disease” patients. Another 618 “non-index” patients have been recruited with capture of physician-confirmed diagnosis and contact information. We have demonstrated the feasibility of blended clinic and central office-based recruitment. “Index disease” patients recruited at the time of writing include 253 with Duchenne and Becker muscular dystrophy, 161 with myotonic dystrophy, and 71 with ALS.

The CNDR is a new nationwide registry of patients with NMDs that represents an important advance in Canadian neuromuscular disease research capacity. It provides an innovative platform for organizing patient information to facilitate clinical research and to expedite translation of recent laboratory findings into human studies.