Niemann-Pick Disease, Type CNCT02435030
A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
An observational study of Niemann-Pick Disease, Type C, run by ZevraDenmark at 16 sites in 8 countries.
Trial summary
This is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data. Read more about this study
- Who is it for?
- Ages 2 to 18 years
- Conditions the study is for
- Niemann-Pick Disease, Type C
- How many people
- 35 participants
- Where
- 16 sitesin 8 countries
- Study dates
- Sep 2015to May 2017
- 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 2 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: NPC1 and NPC2 patients aged 2-18 years
Who may be able to join
- Written informed consent (and assent if appropriate to local laws and regulations) prior to any study-related procedures;
- Males and females aged from 2 years to 18 years and 11 months;
- Patients of any ethnic background will be eligible for this study;
- Patient weight ≥15th percentile of body mass index (BMI) for age according to the World Health Organisation (WHO) standards;
- Diagnosis of Niemann Pick disease Type C (NP-C), either NPC1 or NPC2;
- NP-C diagnosis genetically confirmed (deoxyribonucleic acid [DNA] sequence analysis);
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- Both NPC1 and NPC2 patients are eligible;
- Presenting at least one neurological symptom of the disease (for example, but not limited to, hearing loss, vertical supranuclear gaze palsy, ataxia, dementia, dystonia, seizures, dysarthria, or dysphagia);
- Ability to walk either independently or with assistance;
- Ability to travel to the corresponding clinical trial site repeatedly (every 6 months) for evaluation and follow-up;
- Treated or non-treated with miglustat;
- If a patient is under prescribed treatment with miglustat, it has to be under stable dose of the medication for ≥ 3 continuous months prior to inclusion in the study;
- Sexually active patients must be willing and able to use an adequate method of contraception throughout the study, for example: diaphragm + spermicide; intrauterine contraceptive device; oral contraceptives; implant; injection of a progestogen medication;
- Ability to comply with the protocol-specified procedures/evaluations and scheduled visits;
- Willing to participate in all aspects of trial design including serial blood sampling, skin biopsies and imaging (ultrasonography) collections.
Who cannot join
- No written informed consent obtained from the patient or their parent(s)/legal guardian(s) (and assent if appropriate to local laws and regulation) before any study related procedures;
- Recipient of a liver transplant or planned liver transplantation;
- Patients with uncontrolled severe epileptic seizures period (at least 3 consecutive severe epileptic seizures that required medication) within 2 months prior to the written consent. This includes patients with ongoing seizures that are not stable in frequency or type or duration over a 2 month period prior to enrollment, requiring change in dose of antiepileptic medication (other than adjustment for weight) over a 2 month period prior to enrollment, or requiring 3 or more antiepileptic medications to control seizures;
- Neurologically asymptomatic patients;
- Severe liver insufficiency (defined as hepatic laboratory parameters, aspartate transaminase [AST] and alanine transaminase [ALT] greater than three-times the upper limit of normal for age and gender;
- Severe renal insufficiency, with serum creatinine level greater than 1.5 times the upper limit of normal ;
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- Severe manifestations of NP-C disease that would interfere with the patient's ability to comply with the requirements of this protocol;
- In the opinion of the Investigator, the patient's clinical condition does not allow for the required blood collection and/or skin biopsies as per the protocol-specified procedures;
- Treatment with any IMP within 4 weeks prior to the study enrollment;
- Treatment with any IMP during the study in an attempt to treat NP-C;
- Current participation in another trial is not permitted unless it is a non-interventional study and the sole purpose of the trial is for long-term follow up/survival data (registry);
- Patients will be excluded if there is a confirmed risk linked to the MRI procedure to be performed in the subsequent therapeutic interventional study [i.e.: implanted cardiac pacemaker or implantable cardioverter defibrillator, implanted neural pacemakers, cochlear implants, implanted metallic foreign bodies in the eye or CNS (such as a CNS aneurysmal clip), any form of implanted wire or metal device that may concentrate radio frequency fields and/or confirmed history of unexpected serious adverse reaction to sedation or anesthesia (if sedation is necessary)];
- Patients will be excluded if there is a confirmed risk linked to the skin punch biopsy procedure like severe thrombocytopaenia, at investigator's discretion.
Trial locations and contacts
16 sites in 8 countries.
16 sites in 8 countries
Italy5 sites
Istituto Carlo Besta (Milano)
Milan, 20133
Azienda Ospedaliera San Gerardo
Monza, 20900
Università Federico II
Naples, 80138
Ospedale Pediatrico Bambino Gesù
Rome, 00146
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia"
Udine
Germany2 sites
Villa Metabolica Mainz
Mainz, 55131
Klinikum der Universistat, Munchen
Munich
Spain2 sites
Hospital Vall D'Hebron
Barcelona, 08035
Hospital Quirón
Zaragoza, 50006
United Kingdom2 sites
Birmingham Children's Hospital
Birmingham, B4 6NH
Great Ormond Street Hospital
London, WC1N 3JH
Denmark1 site
University Hospital Copenhagen (Rigshospitalet)
Copenhagen, 2100
About this study
Official title: A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern
This is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data.
Patients will be offered enrollment into a Phase II/III study on arimoclomol at the end of the study.
- Conditions
- Niemann-Pick Disease, Type C
- Keywords
- NP-C, LSD, lysosomal storage disorder, lysosomal storage disease, NPC2, NPC1, Niemann-Pick Type C, Niemann-Pick,, Arimoclomol
- Medical subject headings
- Niemann-Pick Disease, Type C, Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| NP-C Patients | NPC type 1 or 2 patients aged 2-18 years |
What is being measured
The primary outcome is the main question the study is designed to answer.
NP-C clinical disease severity
Change in NP-C Clinical Severity scale
Measured: at week 0 and week 24-28
Quality of life questionnaire (EQ-5D-Y)
Change in the Quality of life
Measured: at week 0 and week 24-28
Ultrasonographic evaluation of liver and spleen
Changes in the size and/or characteristics of the liver and spleen (assessed by ultrasound).
Measured: at week 0 and week 24-28
Oxysterol
Change in Oxysterol concentrations
Measured: at week 0 and week 24-28
NPC clinical symptoms
Change in NPC clinical symptoms
Measured: at week 0 and week 24-28
NPC protein
Change in NPC protein concentrations
Measured: at week 0 and week 24-28
Secondary outcomes (1)
Safety Parameters
Adverse events (AEs) (disease related and treatment related), haematology, clinical chemistry, physical examination, vital signs and electrocardiogram (ECG).
Measured: at week 0 and week 24-28
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2015 (estimated)
- Study startSep 2015
- Primary completionMay 2017
- Study completionMay 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Niemann-Pick Disease, Type CStudies of the same condition, open and under way.
- 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 35 participants (actual)
Sponsor and investigators
- Lead sponsor
- ZevraDenmark
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Karl-Eugen Mengel, Principal investigator, Villa Metabolica, Mainz, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02435030
- Sponsor's protocol ID
- CT-ORZY-NPC-001
- Other IDs
- 2014-005194-37, 2014
- Status last verified
- May 2017
- First submitted
- 22 Apr 2015
- Last updated
- 18 May 2017
- Results posted
- No
- Data monitoring committee
- No
Publications
Mengel E, Bembi B, Del Toro M, Deodato F, Gautschi M, Grunewald S, Gronborg S, Heron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Symonds T, Hudgens S, Patterson MC, Guldberg C, Ingemann L, Petersen NHT, Kirkegaard T, I Dali C. Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. Orphanet J Rare Dis. 2020 Nov 23;15(1):328. doi: 10.1186/s13023-020-01616-0.
PubMed 33228797
Study at a glance
From the registry record, last updated by the sponsor on 18 May 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern
- ClinicalTrials.gov ID
- NCT02435030
- Acronym / sponsor ID
- CT-ORZY-NPC-001
- Conditions
- Niemann-Pick Disease, Type C
- Keywords
- NP-C, LSD, lysosomal storage disorder, lysosomal storage disease, NPC2, NPC1, Niemann-Pick Type C, Niemann-Pick,
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 35 participants (actual)
- Lead sponsor
- ZevraDenmarkIndustry (pharma, biotech, devices)
- Study start
- Sep 2015
- Primary completion
- May 2017 (actual)
- Study completion
- May 2017 (actual)
- First posted
- 6 May 2015 (estimated)
- 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.
This is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data.
Patients will be offered enrollment into a Phase II/III study on arimoclomol at the end of the study.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| NP-C Patients | – | –NPC type 1 or 2 patients aged 2-18 years |
Who may qualify
- Ages
- 2 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- NPC1 and NPC2 patients aged 2-18 years
Key inclusion criteria (15 listed)
- Written informed consent (and assent if appropriate to local laws and regulations) prior to any study-related procedures;
- Males and females aged from 2 years to 18 years and 11 months;
- Patients of any ethnic background will be eligible for this study;
- Patient weight ≥15th percentile of body mass index (BMI) for age according to the World Health Organisation (WHO) standards;
- Diagnosis of Niemann Pick disease Type C (NP-C), either NPC1 or NPC2;
Key exclusion criteria (13 listed)
- No written informed consent obtained from the patient or their parent(s)/legal guardian(s) (and assent if appropriate to local laws and regulation) before any study related procedures;
- Recipient of a liver transplant or planned liver transplantation;
- Patients with uncontrolled severe epileptic seizures period (at least 3 consecutive severe epileptic seizures that required medication) within 2 months prior to the written consent. This includes patients with ongoing seizures that are not stable in frequency or type or duration over a 2 month period prior to enrollment, requiring change in dose of antiepileptic medication (other than adjustment for weight) over a 2 month period prior to enrollment, or requiring 3 or more antiepileptic medications to control seizures;
- Neurologically asymptomatic patients;
- Severe liver insufficiency (defined as hepatic laboratory parameters, aspartate transaminase [AST] and alanine transaminase [ALT] greater than three-times the upper limit of normal for age and gender;
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
NP-C clinical disease severity
Time frame: at week 0 and week 24-28
Change in NP-C Clinical Severity scale
Quality of life questionnaire (EQ-5D-Y)
Time frame: at week 0 and week 24-28
Change in the Quality of life
Ultrasonographic evaluation of liver and spleen
Time frame: at week 0 and week 24-28
Changes in the size and/or characteristics of the liver and spleen (assessed by ultrasound).
Oxysterol
Time frame: at week 0 and week 24-28
Change in Oxysterol concentrations
NPC clinical symptoms
Time frame: at week 0 and week 24-28
Change in NPC clinical symptoms
NPC protein
Time frame: at week 0 and week 24-28
Change in NPC protein concentrations
1 secondary outcome
Safety Parameters
Time frame: at week 0 and week 24-28
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 18 May 2017.
- Derived from this study: PubMed 33228797Mengel E, Bembi B, Del Toro M, Deodato F, Gautschi M, Grunewald S, Gronborg S, Heron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Symonds T, Hudgens S, Patterson MC, Guldberg C, Ingemann L, Petersen NHT, Kirkegaard T, I Dali C. Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. Orphanet J Rare Dis. 2020 Nov 23;15(1):328. doi: 10.1186/s13023-020-01616-0.
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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.
Karl-Eugen Mengel principal investigator
Villa Metabolica, Mainz, Germany
16 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Niemann-Pick Disease, Type C, run by ZevraDenmark at 16 sites in 8 countries.
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 15 inclusion and 13 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 18 May 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in Italy, France, Germany, Spain, United Kingdom and 3 more countries. 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?
NP-C clinical disease severity (time frame: at week 0 and week 24-28). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02435030, which also lists 1 linked publication.
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 18 May 2017.