Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients

Cystinosis Clinical Trial

— Cystinose  

Official title:

Characterization of Neuromuscular Involvement in Late Adolescent and Adult Cystinosis Patients

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05545774
• Other study ID #: APHP220694
• Secondary ID: 2022-A01649-34
• Status: Recruiting
• Start date: September 22, 2022
• Est. completion date: March 2025

Study information

• Verified date: March 2023
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Pascal Laforêt, MD, PhD
• Phone: + 33 1 47 10 77 36
• Email: pascal.laforet[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: March 2025
• Est. primary completion date: March 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 16 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Cystinosis

Locations

Country	Name	City	State
France	Neurology Department, Raymond-Poincaré hospital, APHP	Garches
France	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	Paris

Sponsors (2)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris	Cystinosis Research Foundation

Country where clinical trial is conducted

France, 

Outcome

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