Clinical Trials Logo

Clinical Trial Summary

This study will focus on the symptoms, natural history and clinical impact of facioscapulohumeral muscular dystrophy (FSHD) in children.

Symptoms of classical FSHD start in adulthood. However, a small subgroup of FSHD patients have an early, childhood onset. This early onset is associated with faster progression and other symptoms like hearing loss and epilepsy.

The symptoms, natural history and clinical impact of FSHD in children are largely unknown.

The results of this study will be vital for adequate symptomatic management and trial-readiness.


Clinical Trial Description

FSHD is a hereditary muscle disease with slowly progressive muscle weakness. In children it is a very heterogenic disease ranging from severely affected infants to mildly affected adolescents. Symptoms can include muscle weakness, pain, fatigue, epilepsy, hearing loss, vision loss, mental retardation and spinal deformities. The prevalence of these symptoms and the adequate follow-up of these symptoms is unknown. Moreover the clinical impact and social functioning of children with FSHD is under exposed.

Therefore this study will focus on the total spectrum of FSHD in children.

In addition, an extensive genetic screening will be conducted, searching for (epi)genetic disease modifiers and severity predictors. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT02625662
Study type Observational
Source University Medical Center Nijmegen
Contact
Status Completed
Phase
Start date November 2015
Completion date September 10, 2019

See also
  Status Clinical Trial Phase
Recruiting NCT05590884 - Gadopiclenol Pharmacokinetics, Safety and Efficacy in Children < 2 Years of Age Phase 2
Completed NCT02261857 - 3D-Printed CPAP Masks for Children With Obstructive Sleep Apnea Early Phase 1
Terminated NCT03305562 - Pediatric Hypertension Registry (PHREG)
Completed NCT04506203 - The Accuracy of Pediatric Air Test as a Non-invasive Atelectasis Diagnostic Tool N/A
Completed NCT05095012 - RECOVER Clinical Pathway for Pediatric Concussion N/A
Enrolling by invitation NCT05539456 - Reliability and Validity of the Turkish Version of the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old
Completed NCT04644783 - Novel Blood Test to Predict Safe Foods for Infants and Toddlers With Food Protein-induced Enterocolitis Syndrome (FPIES) N/A
Recruiting NCT02164773 - Addition of Magnesium Sulfate to Caudal to Prevent Postoperative Emergence Agitation. Phase 4
Completed NCT03977948 - Qualitative and Systemic Assessment of a Nurse Intervention an Inpatient Child and His or Her Parents
Completed NCT03358446 - The Optimal Leg Angulation of Femoral Central Catheterization in Pediatrics
Active, not recruiting NCT05087537 - Effect of Concomitant Bladder Neck Incision and Urethral Valve Ablation on Surgical Re-intervention Rate for Patients With Posterior Urethral Valve N/A
Active, not recruiting NCT04522778 - Innovative Central Line Securement Device in the Pediatric Population N/A
Completed NCT03966625 - Serological Identification of Celiac Disease in Kids
Completed NCT03650049 - Food Protein-induced Enterocolitis Syndrome (FPIES) in 14 Children
Enrolling by invitation NCT04435821 - PET/MRI in the Diagnosis of Pediatric Chronic Pain Phase 1
Recruiting NCT04643015 - New Ways of Doing Magnetic Resonance Imaging in Children and Adults
Completed NCT05313295 - Physical Therapy Treatment on Children and Adolescents With Neurological Pathologies N/A
Completed NCT03662113 - Effect of Domperidone on Completion Rate of Vedio Capsule Endoscopy N/A
Not yet recruiting NCT05852535 - Spontaneous Evisceration of Infantile Umbilical Hernia
Not yet recruiting NCT06390007 - The Efficacy of Acupuncture in the Management of Postoperative Pain in the Pediatric Intensive Care Unit N/A