Clinical trial NCT05545774: Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients
Official title: Characterization of Neuromuscular Involvement in Late Adolescent and Adult Cystinosis Patients
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Cystinosis
Keywords: cystinosis
neuromuscular disorder
respiratory function
swallowing disorder
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
Collaborators: name: Cystinosis Research Foundation
First posted: 2022-09-19
Enrollment: 20
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

Brief 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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Change in motor function
timeFrame: 12 months
Secondary outcomes:
measure: Change in motor strength
timeFrame: 12 months
measure: Change in walking capacity
timeFrame: 12 months
measure: Change in the time to stand test
timeFrame: 12 months
measure: Change in the the Box and block test
timeFrame: 12 months
measure: Change in the Nine hole peg test
timeFrame: 12 months
measure: Change in Perdue pegboard test
timeFrame: 12 months
measure: Change in Kapanji test
timeFrame: 12 months
measure: Change in pinch strength
timeFrame: 12 months
measure: Change in grip strength
timeFrame: 12 months
measure: Change in vital capacity
timeFrame: 12 months
measure: Change in inspiratory muscles function
timeFrame: 12 months
measure: Change in expiratory muscles function
timeFrame: 12 months
measure: Change in diaphragmatic performance
timeFrame: 12 months
measure: Incidence of breathing disorders during sleep
timeFrame: 12 months
measure: Change in ratio of fat mass/lean mass
timeFrame: 12 months
measure: Change in swallowing function - Sidney Swallow questionnaire
timeFrame: 12 months
measure: Change in swallowing function - Salassa and McHorney scores
timeFrame: 12 months
measure: Change in swallowing function - time of swallowing
timeFrame: 12 months
Other outcomes:
Locations:
city: Garches
country: France
facility: Neurology Department, Raymond-Poincaré hospital, APHP
city: Paris
country: France
facility: 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
Study officials:
affiliation: Neurology Department, Raymond Poincaré Hospital, APHP
name: Pascal Laforêt, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Physiology department, Raymond Poincaré Hospital, APHP
name: Hélène Prigent, MD, PhD
role: STUDY_DIRECTOR
affiliation: Department of Nephrology and Transplantation, Necker-Enfants Malades University Hospital, APHP
name: Aude Servais, MD, PhD
role: STUDY_CHAIR
References: