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| ID | Type | Description | Link |
|---|---|---|---|
| 2022-A01649-34 | Registry Identifier | IDRCB |
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| Name | Class |
|---|---|
| Cystinosis Research Foundation | OTHER |
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The primary objective of the study is to evaluate the change in motor function of patients with cystinosis.
The secondary objectives of the study:
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.
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.
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| 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 |
| 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. |
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Inclusion Criteria:
Exclusion Criteria:
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Male and female, age ≥ 16 years, with confirmed diagnosis of cystinosis and presenting at least one motor deficiency, are eligibles for this study.
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| Name | Affiliation | Role |
|---|---|---|
| Pascal Laforêt, MD, PhD | Neurology Department, Raymond Poincaré Hospital, APHP | Principal Investigator |
| Hélène Prigent, MD, PhD | Physiology department, Raymond Poincaré Hospital, APHP | Study Director |
| Aude Servais, MD, PhD | Department of Nephrology and Transplantation, Necker-Enfants Malades University Hospital, APHP | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Neurology Department, Raymond-Poincaré hospital, APHP | Garches | 92380 | 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 |
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| ID | Term |
|---|---|
| D003554 | Cystinosis |
| D009468 | Neuromuscular Diseases |
| D053120 | Respiratory Aspiration |
| D003680 | Deglutition Disorders |
| ID | Term |
|---|---|
| D016464 | Lysosomal Storage Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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A biological sample will be taken to assess renal function (creatininemia and glomerular filtration rate according to MDRD formula), thyroid function status (thyrotropin, TSH), diabetes detection (glycemia and glycated heamoglobin, HbA1c) and cystine leukocyte level.
| 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 |
| Paris |
| France |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D009422 | Nervous System Diseases |
| D012120 | Respiration Disorders |
| D012140 | Respiratory Tract Diseases |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D004935 | Esophageal Diseases |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |
| D010608 | Pharyngeal Diseases |
| D010038 | Otorhinolaryngologic Diseases |