TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations - Summary - MDSpire

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

  • By

  • Gage P Kosmanopoulos

  • Jack K Donohue

  • Maya Hoke

  • Simone Thomas

  • Margo A Peyton

  • Linh Vo

  • Thomas O Crawford

  • Reza Sadjadi

  • David N Herrmann

  • Sabrina W Yum

  • Mary M Reilly

  • Steven S Scherer

  • Richard S Finkel

  • Richard A Lewis

  • Davide Pareyson

  • Chiara Pisciotta

  • David Walk

  • Michael E Shy

  • Charlotte J Sumner

  • Inherited Neuropathies Consortium - Rare Disease Clinical Research Network

  • Eleonora Cavalca

  • Luca Crivellari

  • John Day

  • Matilde Laura

  • Stefania Magri

  • Isabella Moroni

  • Bipasha Mukherjee-Clavin

  • Emanuela Pagliano

  • Alex Rossor

  • Paola Saveri

  • Giulia Schirinzi

  • Mariola Skorupinska

  • Janet Sowden

  • Franco Taroni

  • Elizabeth Wood

  • Brett A McCray

  • June 25, 2024

  • 0 min

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Objective:

To characterize the clinical features and natural history of TRPV4-related neuromuscular disease, thereby informing clinical trial design and improving patient outcomes.

Key Findings:
  • TRPV4 patients exhibited a bimodal age of onset, with a peak in the first 2 years of life, indicating early intervention may be crucial.
  • Distinct symptoms included more ambulatory difficulties and proximal muscle involvement compared to CMT type 1A patients, suggesting a need for tailored management strategies.
  • 55% of patients reported vocal fold weakness and shortness of breath, with 11% requiring ventilatory support, highlighting respiratory issues as a significant concern.
  • Common skeletal abnormalities included scoliosis (64%), arthrogryposis (33%), and foot deformities, which may require multidisciplinary care.
  • Patients with infantile onset showed less sensory involvement and less symptom progression, indicating a unique disease trajectory.
Interpretation:

The findings underscore the necessity for clinical trial designs to incorporate outcome measures that effectively capture non-length dependent motor dysfunction, vocal fold weakness, and respiratory issues in TRPV4-related neuromuscular disease.

Limitations:
  • The study is based on a relatively small cohort of patients, which may limit the generalizability of the findings.
  • Clinical features and disease progression may vary widely among individuals with the same TRPV4 mutation, complicating treatment approaches.
Conclusion:

The study provides essential insights into the clinical features of TRPV4-related neuromuscular disease, emphasizing the importance of tailored clinical trial designs to enhance patient care.

Original Source(s)

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

  • by Gage P Kosmanopoulos, Jack K Donohue, Maya Hoke, Simone Thomas, Margo A Peyton, Linh Vo, Thomas O Crawford, Reza Sadjadi, David N Herrmann, Sabrina W Yum, Mary M Reilly, Steven S Scherer, Richard S Finkel, Richard A Lewis, Davide Pareyson, Chiara Pisciotta, David Walk, Michael E Shy, Charlotte J Sumner, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network, Eleonora Cavalca, Luca Crivellari, John Day, Matilde Laura, Stefania Magri, Isabella Moroni, Bipasha Mukherjee-Clavin, Emanuela Pagliano, Alex Rossor, Paola Saveri, Giulia Schirinzi, Mariola Skorupinska, Janet Sowden, Franco Taroni, Elizabeth Wood, Brett A McCray

  • June 25, 2024

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