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NCT Number: NCT04369209

A Registered Cohort Study on FSHD1

The data to be collected is intended to help healthcare providers make important medical and financial decisions concerning FSHD1, through an enhanced understanding of the prevalence, progression and natural history of FSHD1.

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Key information

Conditions

Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)

Sex eligibility

All sexes

Study type

Observational

Primary location

First Affiliated Hospital of Fujian Medical University

Fuzhou, Fujian, 350005, China

Location status: Recruiting

Location contact

Zhiqiang Wang

CONTACT

[email protected]

08659187982772 ext. 08659187982772

Zhiqiang Wang

SUB_INVESTIGATOR

About this study

The China FSHD1 patient registry is a nationwide, population-based, non-interventional, observational cohort clinical study of all age groups of genetically-confirmed FSHD1 patients from families (with at least 1 affected member), collecting data retrospectively at study entry and prospectively during follow up. The data to be collected is intended to help healthcare providers make important medical and financial decisions concerning FSHD1, through an enhanced understanding of the prevalence, progression and natural history of FSHD1.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Male or female subjects of all ages at baseline
  • Subjects, with or without symptoms, with FSHD1 genetic confirmation through PFGE-based Southern blotting
  • Unrelated healthy controls

Exclusion criteria

  • Decline to participate
  • Other neuromuscular disease (such as Limb-girdle muscular dystrophy or Myotonic dystrophy)
  • Serious systemic illness (such as heart, liver, kidney disease or major mental illness)

Treatment and study plan

Primary outcomes

  1. PFGE-based Southern blotting

    Time frame: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years

    Genetic test of PFGE-based Southern blotting were performed for these clinical suspected FSHD1 patients on the basis of the family as a whole. Eligible participants were genetically confirmed patients who presented a contraction to 1-10 D4Z4 repeats with a 4qA-specific FSHD1-permissive haplotype.

  2. The FSHD Clinical Score

    Time frame: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years

    The FSHD Clinical Score was used to define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), which was divided into six independent sections that assess the strength and the functionality of (I) facial muscles (scored from 0 to 2); (II) scapular girdle muscles (scored from 0 to 3); (III) upper limb muscles (scored from 0 to 2); (IV) distal leg muscles (scored from 0 to 2); (V) pelvic girdle muscles (scored from 0 to 5); and (VI) abdominal muscles (scored from 0 to 1).

Secondary outcomes

  1. The modified Medical Research Council (MRC) scale

    Time frame: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years

    The modified Medical Research Council (MRC) scale was used to assess numerically the muscle strength of FSHD participants. Firstly, muscles were tested bilaterally (when applicable) in standardized positions with manual muscle testing (MMT) scores. Then, MMT scores were converted to calculable data of the modified MRC scale.

  2. The Comprehensive Clinical Evaluation Form (CCEF)

    Time frame: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years

    The 2016 Comprehensive Clinical Evaluation Form (CCEF) for FSHD was used to classify phenotypes: category A , typical penetrant patients with both facial and upper limb muscle weakness (subcategories A1: severe facial weakness; A2, moderate facial weakness; A3: only upper or lower facial weakness); category B, atypical penetrant patients (subcategories B1, muscle weakness limited to scapular girdle; B2, muscle weakness limited to facial); category C, asymtomatic (subcategories C1) or nonpennetrant (subcategories C2) patients; and category D, subjects with myopathic phenotype not consistent with FSHD canonical phenotype.

Study contacts

Contact information is provided by the study sponsor or research team.

Ning Wang

CONTACT

[email protected]

13805015340 ext. 13805015340

Sponsors and collaborators

Lead sponsor

Ning Wang, MD., PhD.

Other

Registry information

Official study title

A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1

Important dates

Study start
2001
Primary completion
2031
Study completion
2031
First posted
Apr 30, 2020
Registry last updated
Aug 26, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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