Neurofibromatosis 1NCT06379230
A Retrospective Study on Epidemiological Characteristics of Chinese NF1 Patients in Real World (PROMISE)
An observational study of Neurofibromatosis 1 and Plexiform Neurofibroma, run by Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University at 5 sites in China.
Trial summary
Background/Rationale: Neurofibromatosis type 1 (NF1) affects about 1 in every 3000 people worldwide. Globally, 30~50% NF1 patients will develop plexiform neurofibromas (PNs), which grow rapidly in early childhood and can cause disfigurement, motor dysfunction, pain, airway dysfunction, visual impairment and bladder… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neurofibromatosis 1, Plexiform Neurofibroma
- What is being tested?
- This study is purely descriptive study.
- How many people
- 2,000 participants
- Where
- 5 sitesChina
- Study dates
- 1 Jan 2019to 28 Feb 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients will be included in this study if they: 1) attended the study sites between January 1, 2019 and December 31, 2022; 2) were diagnosed with NF1 based on NIH NF1 consensus (Version 1987 or Version 2021); and 3) were not diagnosed with other malignant tumors from 2019.1.1 to 2022.12.31. As this study was a chart review, there was no systematic follow-up. Follow-up was based on individual patient needs, was not dictated by the study, and varied from person to person in a manner reflective of real clinical practice. Thus, patients were followed up until end of data availability, death, or loss of follow up, whichever comes first.
Who may be able to join
- Patients who attended the study sites between January 1, 2019, and December 31, 2022.
- Patients who were diagnosed with NF1(recorded with the text of type I neurofibromatosis) based on National Institutes of Health (NIH) NF1 consensus.
Who cannot join
- 1. Patients combined with other malignant tumors
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
China5 sites, 4 recruiting
- Recruiting
Xuanwu Hospital, Capital Medical University
Beijing, Beijing Municipality
Lei Zhang, +86 13683139858, zhanglei@xwhosp.org
- Recruiting
West China Hospital, Sichuan University
Chengdu, Sichuan
Yang Xiao, +86 18884266797, xiaoyang_angela@163.com
- Recruiting
The First Affiliated Hospital of Guangxi Medical University
Nanning, Guangxi
Jiping Shi, +86 17758670856
- Active, not recruiting
Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine
Shanghai, Shanghai Municipality, 200011
- Recruiting
The First Affiliated Hospital of Zhengzhou University
Zhengzhou, Henan
Minjing Chen, +86 13673665337, 1916833431@qq.com
About this study
Background/Rationale: Neurofibromatosis type 1 (NF1) affects about 1 in every 3000 people worldwide. Globally, 30~50% NF1 patients will develop plexiform neurofibromas (PNs), which grow rapidly in early childhood and can cause disfigurement, motor dysfunction, pain, airway dysfunction, visual impairment and bladder and bowel dysfunction. This systemic disease imposes a heavy psychosomatic and financial burden on patients and their caregivers. In NF1 patients, the lifetime risk of MPNST developed from PN is 8% to 13%. The mean age for NF1-associated death was approximately 20 years lower than that for the general population. Limited epidemiological and clinical data of Chinese NF1 patients is available to date. And the treatment pattern of Chinese NF1-PN patients is also unknown.
Objectives and Hypotheses: It is a descriptive study without formal hypothesis. The primary objective of this study is determining the percentage of NF1 patients who develop PN. The secondary objectives of this study include describing the clinical characteristics, tumor progression and treatment pattern of NF1-PN. The exploratory objective is exploring the epidemiological characteristics of other NF1 manifestations.
Read more
Methods:
Study design: The study is a retrospective multi-center chart review study. Data Source(s): All the data will be collected by CRF from inpatient and outpatient electronic medical records in every study site from January 1, 2019 to December 31, 2022.
Study Population: Patients who attended the study sites between January 1, 2019 - December 31, 2022 and were diagnosed with NF1 were included in this study. Statistical Analysis: This study is purely descriptive without any formal hypotheses.
Missing data for baseline characteristics will be assessed and addressed as a categorical variable with a level for missingness. All reported measures will be summarized in the study tables. Point estimates and their 95% CIs will be presented in the final analyses.
- Conditions
- Neurofibromatosis 1, Plexiform Neurofibroma
- Being tested
- This study is purely descriptive study.
- Medical subject headings
- Neurofibromatosis 1, Neurofibroma, Plexiform
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
This study is purely descriptive study.Other
This study is purely descriptive study.
What is being measured
The primary outcome is the main question the study is designed to answer.
Determine the percentage of NF1 patients developed PN at the baseline.
The clinical diagnosis of PN mainly depends on the clinical manifestations and imaging of NF1 patients. Superficial PN has a clear clinical manifestation. It refers to a proliferation of cells in the nerve sheath which involves multiple nerve fascicles, forming a large pendulous mass with skin pigmentation on the surface. PN in vivo often has no significant clinical features and requires imaging examination, like MRI. Patients diagnosed with PN are recorded with the text of plexiform neurofibromas in the chart.
The percentage of patients diagnosed with PN with imaging and the percentage of patients diagnosed with PN without imaging will be calculated.
Measured: 2022.12.31
Secondary outcomes (3)
Clinical characteristics of NF1-PN:
Describe the percentage of symptomatic NF1-PN at the baseline.
Measured: 2022.12.31
Tumor progression of NF1-PN
Describe the 1-year/2-year/3-year progression-free survival (PFS) rate of NF1- PN.
Measured: 2022.12.31
Treatment pattern of NF1-PN:
Describe the percentage of NF1-PN patients underwent surgeries after index date.
Measured: 2022.12.31
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Apr 2024
- Study start1 Jan 2019
- Primary completion31 Dec 2022
- Study completion28 Feb 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurofibromatosis 1Studies of the same condition, open and under way.
- More trials run by Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong UniversityThe 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
- Other
- Time perspective
- Retrospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06379230
- Sponsor's protocol ID
- SH9H-2023-T378-1
- Status last verified
- Apr 2024
- First submitted
- 18 Apr 2024
- Last updated
- 23 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective Study on Epidemiological Characteristics of Chinese NF1 Patients in Real World (PROMISE)
- ClinicalTrials.gov ID
- NCT06379230
- Acronym / sponsor ID
- SH9H-2023-T378-1
- Conditions
- Neurofibromatosis 1, Plexiform Neurofibroma
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong UniversityUniversity, hospital or other
- Study start
- 1 Jan 2019 (actual)
- Primary completion
- 31 Dec 2022 (actual)
- Study completion
- 28 Feb 2025 (estimated)
- First posted
- 23 Apr 2024 (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.
Background/Rationale: Neurofibromatosis type 1 (NF1) affects about 1 in every 3000 people worldwide. Globally, 30~50% NF1 patients will develop plexiform neurofibromas (PNs), which grow rapidly in early childhood and can cause disfigurement, motor dysfunction, pain, airway dysfunction, visual impairment and bladder and bowel dysfunction. This systemic disease imposes a heavy psychosomatic and financial burden on patients and their caregivers. In NF1 patients, the lifetime risk of MPNST developed from PN is 8% to 13%. The mean age for NF1-associated death was approximately 20 years lower than that for the general population. Limited epidemiological and clinical data of Chinese NF1 patients is available to date. And the treatment pattern of Chinese NF1-PN patients is also unknown.
Objectives and Hypotheses: It is a descriptive study without formal hypothesis. The primary objective of this study is determining the percentage of NF1 patients who develop PN. The secondary objectives of this study include describing the clinical characteristics, tumor progression and treatment pattern of NF1-PN. The exploratory objective is exploring the epidemiological characteristics of other NF1 manifestations.
Methods:
Study design: The study is a retrospective multi-center chart review study. Data Source(s): All the data will be collected by CRF from inpatient and outpatient electronic medical records in every study site from January 1, 2019 to December 31, 2022.
Study Population: Patients who attended the study sites between January 1, 2019 - December 31, 2022 and were diagnosed with NF1 were included in this study. Statistical Analysis: This study is purely descriptive without any formal hypotheses.
Missing data for baseline characteristics will be assessed and addressed as a categorical variable with a level for missingness. All reported measures will be summarized in the study tables. Point estimates and their 95% CIs will be presented in the final analyses.
Study design
- Observational model
- Other
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients will be included in this study if they: 1) attended the study sites between January 1, 2019 and December 31, 2022; 2) were diagnosed with NF1 based on NIH NF1 consensus (Version 1987 or Version 2021); and 3) were not diagnosed with other malignant tumors from 2019.1.1 to 2022.12.31. As this study was a chart review, there was no systematic follow-up. Follow-up was based on individual patient needs, was not dictated by the study, and varied from person to person in a manner reflective of real clinical practice. Thus, patients were followed up until end of data availability, death, or loss of follow up, whichever comes first.
Key inclusion criteria (2 listed)
- Patients who attended the study sites between January 1, 2019, and December 31, 2022.
- Patients who were diagnosed with NF1(recorded with the text of type I neurofibromatosis) based on National Institutes of Health (NIH) NF1 consensus.
Key exclusion criteria (1 listed)
- 1. Patients combined with other malignant tumors
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| This study is purely descriptive study.This study is purely descriptive study. | Other | – |
Primary outcome
Determine the percentage of NF1 patients developed PN at the baseline.
Time frame: 2022.12.31
The clinical diagnosis of PN mainly depends on the clinical manifestations and imaging of NF1 patients. Superficial PN has a clear clinical manifestation. It refers to a proliferation of cells in the nerve sheath which involves multiple nerve fascicles, forming a large pendulous mass with skin pigmentation on the surface. PN in vivo often has no significant clinical features and requires imaging examination, like MRI. Patients diagnosed with PN are recorded with the text of plexiform neurofibromas in the chart. The percentage of patients diagnosed with PN with imaging and the percentage of patients diagnosed with PN without imaging will be calculated.
3 secondary outcomes
Clinical characteristics of NF1-PN:
Time frame: 2022.12.31
Tumor progression of NF1-PN
Time frame: 2022.12.31
Treatment pattern of NF1-PN:
Time frame: 2022.12.31
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Apr 2024.
- Individual participant dataSharing planned: No
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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.
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis 1 and Plexiform Neurofibroma, run by Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University at 5 sites in China.
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 2 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 23 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in China. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Zhichao Wang (+86 13816382311, shmuwzc@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determine the percentage of NF1 patients developed PN at the baseline. (time frame: 2022.12.31). 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 23 Apr 2024.