CystinosisCystinoseNCT05545774
Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients
An observational study of Cystinosis, run by Assistance Publique - Hôpitaux de Paris at 2 sites in France.
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… Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Cystinosis
- How many people
- 20 participants
- Where
- 2 sitesFrance
- Study dates
- 22 Sep 2022to 11 Sep 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Patients aged ≥ 16 years;
- Genetically confirmed diagnosis of cystinosis;
- Presenting motor deficiency of at least one muscle;
- Covered by health insurance.
Who cannot join
- Patient refusal;
- Foreign patients under AME health schema;
- Patients under legal protection;
- Pregnancy or breast-feeding.
Trial locations and contacts
2 sites in 1 country.
France2 sites
Neurology Department, Raymond-Poincaré hospital, APHP
Garches, 92380
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
About this study
Official title: 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:
Read more
- 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.
Read the 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.
- Conditions
- Cystinosis
- Keywords
- cystinosis, neuromuscular disorder, respiratory function, swallowing disorder
- Medical subject headings
- Cystinosis, Neuromuscular Diseases, Respiratory Aspiration, Deglutition Disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 12 months
Secondary outcomes (18)
Change in motor strength
By Manual Muscle Testing (MMT). Higher scores mean better outcome.
Measured: 12 months
Change in walking capacity
by the 6-minutes walking test. Higher scores mean better outcome.
Measured: 12 months
Change in the time to stand test
by the time to stand test. Higher scores mean better outcome.
Measured: 12 months
Change in the the Box and block test
by the Box and block test. Higher scores mean better outcome.
Measured: 12 months
Change in the Nine hole peg test
by the Nine hole peg test. Higher scores mean better outcome.
Measured: 12 months
Change in Perdue pegboard test
by Perdue pegboard test. Higher scores mean better outcome.
Measured: 12 months
Change in Kapanji test
by Kapanji test. Higher scores mean better outcome.
Measured: 12 months
Change in pinch strength
by myopinch test. Higher value mean better outcome.
Measured: 12 months
Change in grip strength
by myogrip test. Higher value mean better outcome.
Measured: 12 months
Change in vital capacity
By spirometry. Higher value mean better outcome.
Measured: 12 months
Change in inspiratory muscles function
By inspiratory maximal pressure. Higher value mean better outcome.
Measured: 12 months
Change in expiratory muscles function
By expiratory maximal pressure. Higher value mean better outcome.
Measured: 12 months
Change in diaphragmatic performance
By transdiaphragmatic pressures measurements. Higher value mean better outcome.
Measured: 12 months
Incidence of breathing disorders during sleep
Detection by a polysomnography associated to capnography.
Measured: 12 months
Change in ratio of fat mass/lean mass
By osteodensitometry
Measured: 12 months
Change in swallowing function - Sidney Swallow questionnaire
By the Sidney Swallow questionnaire. Higher scores mean better outcome.
Measured: 12 months
Change in swallowing function - Salassa and McHorney scores
By the Salassa and McHorney scores. Higher scores mean better outcome.
Measured: 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.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Sep 2022
- Study start22 Sep 2022
- Primary completion11 Sep 2025
- Study completion11 Sep 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CystinosisStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- Cystinosis Research Foundation
- Responsible party
- Sponsor
- Investigators
- Pascal Laforêt, MD, PhD, Principal investigator, Neurology Department, Raymond Poincaré Hospital, APHPHélène Prigent, MD, PhD, Study director, Physiology department, Raymond Poincaré Hospital, APHPAude Servais, MD, PhD, Study chair, Department of Nephrology and Transplantation, Necker-Enfants Malades University Hospital, APHP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05545774
- Sponsor's protocol ID
- APHP220694
- Other IDs
- 2022-A01649-34
- Acronym
- Cystinose
- Status last verified
- Nov 2025
- First submitted
- 2 Aug 2022
- Last updated
- 24 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Neuromuscular Involvement in Late Adolescent and Adult Cystinosis Patients
- ClinicalTrials.gov ID
- NCT05545774
- Acronym / sponsor ID
- Cystinose / APHP220694
- Conditions
- Cystinosis
- Keywords
- cystinosis, neuromuscular disorder, respiratory function, swallowing disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- Cystinosis Research Foundation
- Study start
- 22 Sep 2022 (actual)
- Primary completion
- 11 Sep 2025 (actual)
- Study completion
- 11 Sep 2025 (actual)
- First posted
- 19 Sep 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- Patients aged ≥ 16 years;
- Genetically confirmed diagnosis of cystinosis;
- Presenting motor deficiency of at least one muscle;
- Covered by health insurance.
Key exclusion criteria (4 listed)
- Patient refusal;
- Foreign patients under AME health schema;
- Patients under legal protection;
- Pregnancy or breast-feeding.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in motor function
Time frame: 12 months
By the Motor Function Measure (MFM) quantitative scale to measure the functional capacities of motors (0-100%, higher scores mean better capacities).
18 secondary outcomes
Change in motor strength
Time frame: 12 months
Change in walking capacity
Time frame: 12 months
Change in the time to stand test
Time frame: 12 months
Change in the the Box and block test
Time frame: 12 months
Change in the Nine hole peg test
Time frame: 12 months
Change in Perdue pegboard test
Time frame: 12 months
Change in Kapanji test
Time frame: 12 months
Change in pinch strength
Time frame: 12 months
Change in grip strength
Time frame: 12 months
Change in vital capacity
Time frame: 12 months
Change in inspiratory muscles function
Time frame: 12 months
Change in expiratory muscles function
Time frame: 12 months
Change in diaphragmatic performance
Time frame: 12 months
Incidence of breathing disorders during sleep
Time frame: 12 months
Change in ratio of fat mass/lean mass
Time frame: 12 months
Change in swallowing function - Sidney Swallow questionnaire
Time frame: 12 months
Change in swallowing function - Salassa and McHorney scores
Time frame: 12 months
Change in swallowing function - time of swallowing
Time frame: 12 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Nov 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Pascal Laforêt, MD, PhD principal investigator
Neurology Department, Raymond Poincaré Hospital, APHP
Hélène Prigent, MD, PhD study director
Physiology department, Raymond Poincaré Hospital, APHP
Aude Servais, MD, PhD study chair
Department of Nephrology and Transplantation, Necker-Enfants Malades University Hospital, APHP
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cystinosis, run by Assistance Publique - Hôpitaux de Paris at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in motor function (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Nov 2025.