INFORM MPS

Current projects within the INFORM MPS research theme are described below. Leadership: Dr. John Mitchell & Dr. Michal Inbar-Feigenberg

 

Canadian MPS Patient Registry

Click here to go to the patient registry section and learn more about the metabolic registry project.

Core Outcome Set

The INFORM RARE research network, together with international experts (including patients, caregivers, and health professionals), is developing a core outcome set (COS) for MPS in children/youth. The protocol outlining the development process has been published (click here for open access link). Briefly, we are following a 6-step process based on recommendations by the Core Outcome Measures in Effectiveness Trials (COMET) Initiative:

This image shows the 6 steps involved in the development of the core outcome set. All 6 steps are described in detail in the published protocol paper (link above image). Steps 1 through 4 have been completed.

Steps 1 through 4 have been completed. We are currently working on identifying outcome measurement instrument tools to recommend for each core outcome (step 5).

The final list of core outcomes is presented below, along with their definitions and outcome measurement instruments (in development - see request for feedback below):

We are in the process of refining the measurement tools for the above outcomes and would welcome feedback by email at informrare@uottawa.ca.

References:

  1. HealthMeasures. Intro to PROMIS® [Internet]. 2023 [cited 2024 Feb 4]. Available from: https://www.healthmeasures.net/explore-measurement-systems/promis/intro-to-promis.

  2. Harrison PL, Oakland T. Adaptive Behavior Assessment System: Third Edition. In: Kreutzer JS, DeLuca J, Caplan B, editors. Encyclopedia of Clinical Neuropsychology [Internet]. Springer, Cham; 2018 [cited 2024 Jan 30]. Available from: https://link.springer.com/referenceworkentry/10.1007/978-3-319-57111-9_1506.

  3. Oakland T. Adaptive Behavior Assessment System – Second Edition. In: Kreutzer JS, DeLuca J, Caplan B, editors. Encyclopedia of Clinical Neuropsychology [Internet]. New York: Springer; 2011 [cited 2024 Jan 30]. p. 37–9. Available from: https://link.springer.com/referenceworkentry/10.1007/978-0-387-79948-3_1506.

  4. Owens JA, Spirito A, McGuinn M. The Children’s Sleep Habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children. Sleep. 2000;23(8):1043-51.

  5. Buysse DJ, Reynolds CF, Monk TH, Berman SR, Kupfer DJ. The Pittsburgh Sleep Quality Index (PSQI): A new instrument for psychiatric research and practice. Psychiatry Res. 1989;28(2):193-213.

  6. Udhnani MD, Miller JS, Lecavalier L. Development and Preliminary Validation of the Accommodations & Impact Scale for Developmental Disabilities. J Autism Dev Disord. 2023.

  7. Varni JW, Seid M, Rode CA. The PedsQL™: Measurement Model for the Pediatric Quality of Life Inventory. Medical Care. 1999;37(2):126-39.

  8. American Thoracic Society. ATS Statement: Guidelines for the Six-Minute Walk Test. Am J Respir Crit Care Med. 2002;166:111-7.

  9. Busner J, Targum SD. The Clinical Global Impressions Scale. Psychiatry (Edgmont). 2007;4(7):28-37.

  10. Ahmed A, Rudser K, Kunin-Batson A, Delaney K, Whitley C, Shapiro E. Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity. JIMD Rep. 2016;26:61-8.

  11. Singh A, Yeh CJ, Blanchard SB. Ages and Stages Questionnaire: a global screening scale. Bol Med Hosp Infant Mex. 2017;74(1):5-12.

  12. Pearson. WISC-V Efficacy Research Report [Internet]. 2017 [cited 2024 Feb 4]. Available from: https://www.pearson.com/content/dam/one-dot-com/one-dot-com/global/Files/efficacy-and-research/reports/WISC-V-Research-Report-v5.pdf.

  13. Allen M. Kaufman Assessment Battery for Children, Second Edition. In: Volkmar F, editor. Encyclopedia of Autism Spectrum Disorders [Internet]. New York: Springer; 2013 [cited 2024 Feb 4]. p. 1670–3. Available from: https://link.springer.com/referenceworkentry/10.1007/978-1-4419-1698-3_94#citeas.

MPS trial: Adalimumab (Humira) for pain

INFORM MPS received funding (see below) to add Canadian sites to an existing trial in the United States. The primary purpose of the trial is to evaluate the efficacy of adalimumab (Humira) versus placebo on bodily pain in children and adults with MPS I, II, IVA, or VI. The trial will be conducted at three Canadian sites:

  • McGill University Health Centre (Montreal, QC)

  • Hospital for Sick Children (Toronto, ON)

  • Stollery Children’s Hospital (Edmonton, AB)

Revisions to the scientific methods of the US trial protocol are underway to adapt to Canadian regulations and requirements.

Funding: JJ Mitchell et al., Canadian Institutes of Health Research, CIHR Operating Grant: Clinical Trials Projects for The Safety and Efficacy of Adalimumab for Pain Reduction in Individuals with Mucopolysaccharidoses: A Phase 1/2 Randomized, Double-Blind, Placebo-Controlled Trial, 2022-2025