Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients

NCT05545774 | Completed

• 2 other identifiers: APHP2206942022-A01649-34
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 2

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.

Conditions

Cystinosis

Keywords

cystinosis; neuromuscular disorder; respiratory function; swallowing disorder

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (18)

• Change in motor strength

  12 months

• Change in walking capacity

  12 months

• Change in the time to stand test

  12 months

• Change in the the Box and block test

  12 months

• Change in the Nine hole peg test

  12 months

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• Cystinosis Research Foundation: collaborator

Study Sites (2)

Neurology Department, Raymond-Poincaré hospital, APHP

Garches, 92380, France

Location

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, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

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.

MeSH Terms

Conditions

Cystinosis; Neuromuscular Diseases; Respiratory Aspiration; Deglutition Disorders

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases; Respiration Disorders; Respiratory Tract Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Esophageal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Pharyngeal Diseases; Otorhinolaryngologic Diseases

Study Officials

• 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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 2, 2022
• First Posted: September 19, 2022
• Study Start: September 22, 2022
• Primary Completion: September 11, 2025
• Study Completion: September 11, 2025
• Last Updated: November 24, 2025

Record last verified: 2025-11

Locations

FR (2)