Neurofibromatosis Type 1NF1NCT05149469
Molecular Aspects of Preimplantation Genetic Diagnosis for NF1
An observational study of Neurofibromatosis Type 1, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
Neurofibromatosis 1 (NF1) is a multisystem disorders characterized by skin abnormalities, such as café-au-lait spots and neurofibromas, learning disabilities, skeletal anomalies and vascular complications. Experience learns that this disorder is a great burden for patients. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Neurofibromatosis Type 1
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 15 Sep 2021to 19 Aug 2022
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: - Major subjects (≥18 years old) who have been treated at the HUS for a preimplantation diagnosis request for type 1 neurofibromatosis (confirmed by a molecular molecular analysis) and who have benefited from preliminary analyzes, between 01/01/2004 and 30/06 / 2021
Who may be able to join
- Major subjects (≥18 years old)
- Couples who have been treated at the HUS for a preimplantation diagnosis request for type 1 neurofibromatosis (confirmed by a molecular molecular analysis) and who have benefited from preliminary analyzes, between 01/01/2004 and 30/06 / 2021
- Couple who, after receiving information, did not express their opposition to the reuse of their data for the purposes of this research
Who cannot join
- Couples who expressed their opposition to participating in the study
- Subject under guardianship, curatorship or safeguard of justice
Trial locations and contacts
1 site in 1 country.
France1 site
Service Laboratoire de Diagnostic Génétique - Hôpitaux Universitaires de Strasbourg
Strasbourg, 67091
About this study
Official title: Evaluation of Preimplantation Genetic Diagnosis for Neurofibromatosis Type 1 (NF1), Emphasizing on the Molecular Aspects
Neurofibromatosis 1 (NF1) is a multisystem disorders characterized by skin abnormalities, such as café-au-lait spots and neurofibromas, learning disabilities, skeletal anomalies and vascular complications. Experience learns that this disorder is a great burden for patients. NF1 is an autosomal dominant disorder with 50% risk of transmission. The penetrance is nearly 100%, but the expression varies greatly even within families, which makes it nearly impossible to predict severity in offspring. Preimplantation genetic diagnosis (PGD) is a reproductive option for couples at risk of transmitting NF1 to their offspring. We perform a retrospective and observational multicentric study in the Maastricht University Medical Center, the University Hospital of Brussel and Strasbourg University Hospital. Our specific (and first) goal is to evaluate the molecular aspects of PGD for NF1 in an international cohort of couples requesting PGD for NF1.
About 50% of the patients with NF1 have a de novo mutation that can complicate development of a PGD test. Earlier studies from 1990 and 1992 have shown that de novo NF1 mutations usually occur on the paternal allele. We want to confirm these findings with collected data from our cohort. The high incidence of de novo mutations results in a higher chance of finding mosaicism in patients or their parents. As a result of this, it can become apparent during PGD test preparation that PGD treatment is no longer possible or indicated. The investigators will evaluate these aspects of PGD for NF1 in our cohort.
They are also interested, as a second goal, in other aspects of PGD treatment for NF1, such as the success rate in thier cohort. They expect the success rate to be the same as for other autosomal dominant disorders
- Conditions
- Neurofibromatosis Type 1
- Keywords
- Neurofibromatosis Type 1, NF1, Preimplantation genetic diagnosis, De novo mutation, Mosaicism, Molecular test
- Medical subject headings
- Neurofibromatosis 1
What is being measured
The primary outcome is the main question the study is designed to answer.
Study of the molecular aspects of PGD for NF1 in a large European cohort.
Measured: Files analysed retrospectively from from January 1, 2004 to June 30, 2021 will be examined]
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Dec 2021
- Study start15 Sep 2021
- Primary completion19 Aug 2022
- Study completion19 Aug 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurofibromatosis Type 1Studies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe 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
- Case only
- Time perspective
- Retrospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05149469
- Sponsor's protocol ID
- 8374
- Acronym
- NF1
- Status last verified
- Oct 2024
- First submitted
- 24 Nov 2021
- Last updated
- 16 Oct 2024
- 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 16 Oct 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Preimplantation Genetic Diagnosis for Neurofibromatosis Type 1 (NF1), Emphasizing on the Molecular Aspects
- ClinicalTrials.gov ID
- NCT05149469
- Acronym / sponsor ID
- NF1 / 8374
- Conditions
- Neurofibromatosis Type 1
- Keywords
- Neurofibromatosis Type 1, NF1, Preimplantation genetic diagnosis, De novo mutation, Mosaicism, Molecular test
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 15 Sep 2021 (actual)
- Primary completion
- 19 Aug 2022 (actual)
- Study completion
- 19 Aug 2022 (actual)
- First posted
- 8 Dec 2021 (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.
Neurofibromatosis 1 (NF1) is a multisystem disorders characterized by skin abnormalities, such as café-au-lait spots and neurofibromas, learning disabilities, skeletal anomalies and vascular complications. Experience learns that this disorder is a great burden for patients. NF1 is an autosomal dominant disorder with 50% risk of transmission. The penetrance is nearly 100%, but the expression varies greatly even within families, which makes it nearly impossible to predict severity in offspring. Preimplantation genetic diagnosis (PGD) is a reproductive option for couples at risk of transmitting NF1 to their offspring. We perform a retrospective and observational multicentric study in the Maastricht University Medical Center, the University Hospital of Brussel and Strasbourg University Hospital. Our specific (and first) goal is to evaluate the molecular aspects of PGD for NF1 in an international cohort of couples requesting PGD for NF1.
About 50% of the patients with NF1 have a de novo mutation that can complicate development of a PGD test. Earlier studies from 1990 and 1992 have shown that de novo NF1 mutations usually occur on the paternal allele. We want to confirm these findings with collected data from our cohort. The high incidence of de novo mutations results in a higher chance of finding mosaicism in patients or their parents. As a result of this, it can become apparent during PGD test preparation that PGD treatment is no longer possible or indicated. The investigators will evaluate these aspects of PGD for NF1 in our cohort.
They are also interested, as a second goal, in other aspects of PGD treatment for NF1, such as the success rate in thier cohort. They expect the success rate to be the same as for other autosomal dominant disorders
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- - Major subjects (≥18 years old) who have been treated at the HUS for a preimplantation diagnosis request for type 1 neurofibromatosis (confirmed by a molecular molecular analysis) and who have benefited from preliminary analyzes, between 01/01/2004 and 30/06 / 2021
Key inclusion criteria (3 listed)
- Major subjects (≥18 years old)
- Couples who have been treated at the HUS for a preimplantation diagnosis request for type 1 neurofibromatosis (confirmed by a molecular molecular analysis) and who have benefited from preliminary analyzes, between 01/01/2004 and 30/06 / 2021
- Couple who, after receiving information, did not express their opposition to the reuse of their data for the purposes of this research
Key exclusion criteria (2 listed)
- Couples who expressed their opposition to participating in the study
- Subject under guardianship, curatorship or safeguard of justice
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
Study of the molecular aspects of PGD for NF1 in a large European cohort.
Time frame: Files analysed retrospectively from from January 1, 2004 to June 30, 2021 will be examined]
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 16 Oct 2024.
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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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis Type 1, run by University Hospital, Strasbourg, France at 1 site 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 3 inclusion and 2 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 16 Oct 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
Study of the molecular aspects of PGD for NF1 in a large European cohort. (time frame: Files analysed retrospectively from from January 1, 2004 to June 30, 2021 will be examined]). 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 16 Oct 2024.