Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients (Cystinose)

Characterization of Neuromuscular Involvement in Late Adolescent and Adult Cystinosis Patients

The primary objective of the study is to evaluate the change in motor function of patients with cystinosis.

The secondary objectives of the study:

• assessment of the respiratory function;
• assessment of the muscle function;
• assessment of swallowing disorders;
• assessment radiologically of the muscular efficiency;
• assessment of lean mass / fat mass ratio;
• assessment of sleeping disorders;
• annual assessment of evolution of above functions.

All patients will be examined by experienced neuromuscular specialist (Pr Pascal Laforêt) and pulmonologist specialized in neuromuscular disorders (Pr Hélène Prigent). All evaluations will be performed in Raymond-Poincaré hospital (Teaching hospital of Assistance Publique - Hopitaux de Paris (APHP) and University of Paris-Saclay) neuromuscular center, coordinated by Pr Pascal Laforêt.

Study Overview

• Status: Recruiting
• Conditions: Cystinosis

Detailed Description

This is a monocentric study. The enrollment will be performed as routine care in the department of neurology - neuromuscular center of Raymond Poincaré hospital (APHP).

Patients with cystinosis will be consecutively invited to participate in the study until 20 patients are included. This will avoid selection bias if any. For eligible non included patients, a specific non-identifying registry will be set-up with a very restricted number of variables indicative of disease severity at baseline, allowing for a comparison of included and non-included patients.

Participating cystinosis patients will be proposed to attend a one-day hospitalization. Evaluations will be performed during stable state upon baseline and during a follow-up visit 12 months later.

The study expected duration is 30 months with 18 months for patients' inclusion and 12 month-follow-up.

• Study Type: Observational
• Enrollment (Anticipated): 20

Contacts and Locations

• Study Contact: Name: Pascal Laforêt, MD, PhD; Phone Number: + 33 1 47 10 77 36; Email: pascal.laforet@aphp.fr
• Study Contact Backup: Name: Hélène Prigent, MD, PhD; Phone Number: + 33 (1) 47107940; Email: Helene.prigent@aphp.fr

Study Locations

• France
  • Garches, France, 92380
    • Not yet recruiting
    • Neurology Department, Raymond-Poincaré hospital, APHP
    • Sub-Investigator: Hélène Prigent, MD, PhD
    • Contact: Pascal Laforêt, MD, PhD; Phone Number: + 33 (1) 47107736; Email: pascal.laforêt@aphp.fr
  • Paris, France
    • Recruiting
    • Department of Nephrology and Transplantation Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker-Enfants Malades University Hospital, APHP
    • Contact: Aude Servais, MD, PhD; Email: aude.servais@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Male and female, age ≥ 16 years, with confirmed diagnosis of cystinosis and presenting at least one motor deficiency, are eligibles for this study.

Description

Inclusion Criteria:

• Patients aged ≥ 16 years;
• Genetically confirmed diagnosis of cystinosis;
• Presenting motor deficiency of at least one muscle;
• Covered by health insurance.

Exclusion Criteria:

• Patient refusal;
• Foreign patients under AME health schema;
• Patients under legal protection;
• Pregnancy or breast-feeding.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in motor function	By the Motor Function Measure (MFM) quantitative scale to measure the functional capacities of motors (0-100%, higher scores mean better capacities).	12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in motor strength	By Manual Muscle Testing (MMT). Higher scores mean better outcome.	12 months
Change in walking capacity	by the 6-minutes walking test. Higher scores mean better outcome.	12 months
Change in the time to stand test	by the time to stand test. Higher scores mean better outcome.	12 months
Change in the the Box and block test	by the Box and block test. Higher scores mean better outcome.	12 months
Change in the Nine hole peg test	by the Nine hole peg test. Higher scores mean better outcome.	12 months
Change in Perdue pegboard test	by Perdue pegboard test. Higher scores mean better outcome.	12 months
Change in Kapanji test	by Kapanji test. Higher scores mean better outcome.	12 months
Change in pinch strength	by myopinch test. Higher value mean better outcome.	12 months
Change in grip strength	by myogrip test. Higher value mean better outcome.	12 months
Change in vital capacity	By spirometry. Higher value mean better outcome.	12 months
Change in inspiratory muscles function	By inspiratory maximal pressure. Higher value mean better outcome.	12 months
Change in expiratory muscles function	By expiratory maximal pressure. Higher value mean better outcome.	12 months
Change in diaphragmatic performance	By transdiaphragmatic pressures measurements. Higher value mean better outcome.	12 months
Incidence of breathing disorders during sleep	Detection by a polysomnography associated to capnography.	12 months
Change in ratio of fat mass/lean mass	By osteodensitometry	12 months
Change in swallowing function - Sidney Swallow questionnaire	By the Sidney Swallow questionnaire. Higher scores mean better outcome.	12 months
Change in swallowing function - Salassa and McHorney scores	By the Salassa and McHorney scores. Higher scores mean better outcome.	12 months
Change in swallowing function - time of swallowing	By the time of swallowing 80 ml of water (normal = 3-4 sec). Higher values mean worse outcome.	12 months

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: Cystinosis Research Foundation
• Investigators: Principal Investigator: Pascal LAFORÊT, MD, PhD, Neurology Department, Raymond Poincaré Hospital, APHP; Study Director: Hélène Prigent, MD, PhD, Physiology department, Raymond Poincaré Hospital, APHP; Study Chair: Aude Servais, MD, PhD, Department of Nephrology and Transplantation, Necker-Enfants Malades University Hospital, APHP

Study record dates

Study Major Dates

• Study Start (Actual): September 22, 2022
• Primary Completion (Anticipated): March 1, 2025
• Study Completion (Anticipated): March 1, 2025

Study Registration Dates

• First Submitted: August 2, 2022
• First Submitted That Met QC Criteria: September 14, 2022
• First Posted (Actual): September 19, 2022

Study Record Updates

• Last Update Posted (Actual): March 16, 2023
• Last Update Submitted That Met QC Criteria: March 15, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Keywords: swallowing disorder; respiratory function; cystinosis; neuromuscular disorder
• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Cystinosis
• Other Study ID Numbers: APHP220694; 2022-A01649-34 (Registry Identifier: IDRCB)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No