Clinical trial · Observational
Study of the Genetic and Epigenetic Causes of Recurrent Hydatidiform Moles
Genetic Studies in Gestational Trophoblastic Disease
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The researchers' laboratory is studying a rare class of highly recurrent hydatidiform moles. These are usually complete hydatidiform moles (CHM), but sometimes they are partial hydatidiform moles PHM). With sporadic moles, the difference between CHMs and PHMs is that with CHMS, there is not typically an embryo or fetus at the time of diagnosis but with a PHM there may be a fetus. Also, CHMs have 46 chromosomes in each cell. While this is the number of chromosomes that should be found, the problem is that all the chromosomes come from the father. Normally, half the chromosomes should come from the mother and half should come from the father. Unlike CHMs, PHMs have 69 chromosomes. This means that PHMs have three copies of each chromosome when they should only have two. The extra copy comes from the father. The researchers' study focuses on moles that are genetically different from these sporadic moles in that they have 23 chromosomes from the mother and 23 chromosomes from the father - just like a normally developing pregnancy. These are called biparental moles because the mutation that causes the mole comes from both parents. This mutation occurs in a gene called NLRP7. The researchers' team is working to understand how mutations in NLRP7 leads to CHMs and how these mutations may lead to other types of pregnancy loss. The researchers are also trying to discover other genetic and epigenetic factors that may lead to moles.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Hydatidiform Moles | Molar Pregnancy | ALIAS | 0.90 |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (1)
- label
- Experimental
- description
- Individuals with recurrent or sporadic hydatidiform moles and their first-degree family members. Sometimes additional family members are also enrolled.
Primary outcomes (2)
- measure
- Identifying the change in the genetic information that causes recurrent hydatidiform moles.
- timeFrame
- Through study completion, an average of 15 years.
- description
- The researchers will isolate genetic material from blood of women with recurrent hydatidiform molar (RHM) pregnancies, their RHM pregnancies, and for some first-degree relatives. DNA sequencing along with bioinformatic analysis will be used to find changes in the genetic code unique to individuals with RHM. When a new gene is found that shows variants that are deleterious to its function in at least 3 unrelated women with RHM, but not in healthy pregnant women, the outcome (finding a new genetic cause of RHM) will be achieved. RHM are very rare and only 70% have a known cause (known gene), thus the researchers will continue recruitment and enrollment of rare undiagnosed individuals when they are referred to the study. A key finding in one individual can provide the clue for a new disease gene in others. It cannot be predicted when this will happen, thus enrollment and data collection will continue as long as the protocol is open.
- measure
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * Personal or family history of recurrent moles or a sporadic mole * Presence of a mutation in NLRP7 Exclusion Criteria: * None
References
Publications (17)
- BACKGROUNDVan den Veyver IB, Al-Hussaini TK. Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring. Hum Reprod Update. 2006 May-Jun;12(3):233-42. doi: 10.1093/humupd/dmk005. Epub 2006 Mar 15. PMID 16540529
- BACKGROUNDMoglabey YB, Kircheisen R, Seoud M, El Mogharbel N, Van den Veyver I, Slim R. Genetic mapping of a maternal locus responsible for familial hydatidiform moles. Hum Mol Genet. 1999 Apr;8(4):667-71. doi: 10.1093/hmg/8.4.667. PMID 10072436
- BACKGROUNDQian J, Deveault C, Bagga R, Xie X, Slim R. Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations. Hum Mutat. 2007 Jul;28(7):741. doi: 10.1002/humu.9498. PMID 17579354
- BACKGROUNDSlim R, Mehio A. The genetics of hydatidiform moles: new lights on an ancient disease. Clin Genet. 2007 Jan;71(1):25-34. doi: 10.1111/j.1399-0004.2006.00697.x. PMID 17204043
- BACKGROUNDDjuric U, El-Maarri O, Lamb B, Kuick R, Seoud M, Coullin P, Oldenburg J, Hanash S, Slim R. Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. Hum Genet. 2006 Oct;120(3):390-5. doi: 10.1007/s00439-006-0192-3. Epub 2006 Jul 28. PMID 16874523
- BACKGROUNDMurdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006 Mar;38(3):300-2. doi: 10.1038/ng1740. Epub 2006 Feb 5. PMID 16462743
- BACKGROUNDFisher RA, Hodges MD, Newlands ES. Familial recurrent hydatidiform mole: a review. J Reprod Med. 2004 Aug;49(8):595-601. PMID 15457849