Hydatidiform MolesNCT01008501
Study of the Genetic and Epigenetic Causes of Recurrent Hydatidiform Moles
An observational study of Hydatidiform Moles, run by Baylor College of Medicine at 1 site in United States.
Trial summary
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). Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Hydatidiform Moles
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Nov 2000to Jan 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals who have had sporadic or recurrent hydatidiform moles and their first degree relatives. Sometimes additional family members are also enrolled.
Who may be able to join
- Personal or family history of recurrent moles or a sporadic mole
- Presence of a mutation in NLRP7
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Genetic Studies in Gestational Trophoblastic Disease
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.
Read the detailed description
Hydatidiform mole (HM) is the product of an aberrant human pregnancy in which there is abnormal embryonic development and abnormal proliferation of placental villi. The incidence of HM varies between ethnic groups, and occurs in 1 in every 1500 pregnancies in the USA. All HM cases are sporadic except for extremely rare familial cases. The exact mechanisms leading to molar pregnancies are not known. Hydatidiform moles are classified based on histology and karyotype data into two types:
complete hydatidiform moles (CHM) and partial hydatidiform moles (PHM). The complete forms are characterized by general trophoblastic proliferation and absence of an embryo and amniotic membranes. In most of the cases, CHM have a diploid genome, and are androgenetic with two identical sets of paternal chromosomes. Partial hydatidiform moles are characterized by focal trophoblastic proliferation. Embryos and amniotic membranes are usually present in these molar pregnancies. Partial hydatidiform moles are mostly triploid with two sets of paternal chromosomes and one set of maternal chromosomes. The comparison of findings in androgenetic CHM and PHM indicate that both maternally (under) expressed and paternally (over) expressed genes play a role in the pathophysiology of molar pregnancies. Very few genetic studies have been performed on molar pregnancies or the patients who carry these pregnancies. A few studies have looked at the over- or underexpression of genes that may play a role in the progression or invasiveness of hydatidiform moles; however none have addressed the underlying genetic etiology. We have been able to study an inbred family of which several female members have had recurrent hydatidiform moles and have now genetically mapped the defective gene responsible for the molar pregnancies in this family. We then worked towards refined characterization of the genetic locus containing the mutated gene and analysis of candidate genes in this region for mutations leading to molar pregnancy. Because the hydatidiform moles in these patients have abnormal genetic imprinting, we believe that this candidate gene is important for establishment of genetic imprinting in the maternal germline. Recently, another group of investigators studying this condition identified mutations in a gene, NALP7 (now renamed to NLRP7), in some of the affected women. We confirmed this in other subjects studied by us. This is the first identified gene, but there is genetic heterogeneity and other genes still remain to be found. In addition, the normal function of this gene in reproduction and how it leads to recurrent moles when mutated remains to be determined. To study both of these, it will be very important to collect as many molar pregnancy tissue samples as possible, as well as blood samples and/or other non-invasively obtained samples, such as buccal swabs and saliva, from affected patients and their families. Recent evidence suggests that mutations in NLRP7 might cause other forms of reproductive failure, such as triploid spontaneous abortions. It has further been proposed that the mutation status of NLRP7 in women with recurrent reproductive loss is an important predictor of the outcome of Assisted Reproductive Technologies. Therefore, we are carrying out mutation analysis of NLRP2 and NLRP7 in women with unexplained infertility and other forms of reproductive failure.
- Conditions
- Hydatidiform Moles
- Keywords
- hydatidiform moles, complete hydatidiform moles, partial hydatidiform moles, Molar pregnancy, NLRP7, pregnancy wastage, imprinting, sporadic hydatidiform moles, recurrent hydatidiform moles
- Medical subject headings
- Hydatidiform Mole
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 |
|---|---|---|
| Experimental | Individuals with recurrent or sporadic hydatidiform moles and their first-degree family members. Sometimes additional family members are also enrolled. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identifying the change in the genetic information that causes recurrent hydatidiform moles.
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.
Measured: Through study completion, an average of 15 years.
Identifying the changes in the genetic information that cause different forms of unexplained reproductive failure
The researchers will isolate genetic material from blood of women with recurrent unexplained reproductive failure (RF), their miscarried pregnancies if possible, and for some from first-degree relatives. DNA sequencing and bioinformatic analysis will be used to find changes in the genetic code unique to individuals with unexplained RF. When a new gene is found that shows variants that are deleterious to its function in at least 3 unrelated women with unexplained RF, but not in healthy pregnant women, the outcome (finding a new genetic cause for RF) will be achieved. Unexplained RF is relatively rare and many causes are not yet known, 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
Measured: Through study completion, an average of 15 years.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Nov 2009 (estimated)
- Study start7 Nov 2000
- Primary completionJan 2030 (estimated)
- Study completionJan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (17)Papers the sponsor has linked to this study.
- Other trials for Hydatidiform MolesStudies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe 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
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ignatia Van den Veyver, Baylor College of Medicine
- Investigators
- Ignatia B Van den Veyver, MD, Principal investigator, Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01008501
- Sponsor's protocol ID
- BCM Hydatidiform Mole H7345
- Status last verified
- Apr 2026
- First submitted
- 4 Nov 2009
- Last updated
- 23 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: The study is aimed to find the genetic cause of a rare condition, hydatidiform moles. Patient data with no identifying information will be published in aggregate following peer review in journals and/or presented at scientific meetings.
Publications
Van 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.
PubMed 16540529Moglabey 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.
PubMed 10072436Qian 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.
PubMed 17579354Slim 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.
PubMed 17204043Djuric 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.
PubMed 16874523Murdoch 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.
PubMed 16462743Fisher RA, Hodges MD, Newlands ES. Familial recurrent hydatidiform mole: a review. J Reprod Med. 2004 Aug;49(8):595-601.
PubMed 15457849Zhao J, Moss J, Sebire NJ, Cui QC, Seckl MJ, Xiang Y, Fisher RA. Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole. Hum Reprod. 2006 Feb;21(2):536-41. doi: 10.1093/humrep/dei357. Epub 2005 Oct 20.
PubMed 16239310Fisher RA, Hodges MD, Rees HC, Sebire NJ, Seckl MJ, Newlands ES, Genest DR, Castrillon DH. The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. Hum Mol Genet. 2002 Dec 15;11(26):3267-72. doi: 10.1093/hmg/11.26.3267.
PubMed 12471053van der Smagt JJ, Scheenjes E, Kremer JA, Hennekam FA, Fisher RA. Heterogeneity in the origin of recurrent complete hydatidiform moles: not all women with multiple molar pregnancies have biparental moles. BJOG. 2006 Jun;113(6):725-8. doi: 10.1111/j.1471-0528.2006.00929.x.
PubMed 16709217Kou YC, Shao L, Peng HH, Rosetta R, del Gaudio D, Wagner AF, Al-Hussaini TK, Van den Veyver IB. A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Mol Hum Reprod. 2008 Jan;14(1):33-40. doi: 10.1093/molehr/gam079. Epub 2007 Nov 26.
PubMed 18039680Panichkul PC, Al-Hussaini TK, Sierra R, Kashork CD, Popek EJ, Stockton DW, Van den Veyver IB. Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis. J Soc Gynecol Investig. 2005 Jul;12(5):376-83. doi: 10.1016/j.jsgi.2005.02.011.
PubMed 15979551Al-Hussaini TK, Abd el-Aal DM, Van den Veyver IB. Recurrent pregnancy loss due to familial and non-familial habitual molar pregnancy. Int J Gynaecol Obstet. 2003 Nov;83(2):179-86. doi: 10.1016/s0020-7292(03)00209-1.
PubMed 14550593Saxena A, Frank D, Panichkul P, Van den Veyver IB, Tycko B, Thaker H. The product of the imprinted gene IPL marks human villous cytotrophoblast and is lost in complete hydatidiform mole. Placenta. 2003 Sep-Oct;24(8-9):835-42. doi: 10.1016/s0143-4004(03)00130-9.
PubMed 13129680Van den Veyver IB, Norman B, Tran CQ, Bourjac J, Slim R. The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3) is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnancies. J Soc Gynecol Investig. 2001 Sep-Oct;8(5):305-13. doi: 10.1016/s1071-5576(01)00129-0.
PubMed 11677152
Study at a glance
From the registry record, last updated by the sponsor on 23 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Studies in Gestational Trophoblastic Disease
- ClinicalTrials.gov ID
- NCT01008501
- Acronym / sponsor ID
- BCM Hydatidiform Mole H7345
- Conditions
- Hydatidiform Moles
- Keywords
- hydatidiform moles, complete hydatidiform moles, partial hydatidiform moles, Molar pregnancy, NLRP7, pregnancy wastage, imprinting, sporadic hydatidiform moles
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Study start
- 7 Nov 2000 (actual)
- Primary completion
- Jan 2030 (estimated)
- Study completion
- Jan 2030 (estimated)
- First posted
- 5 Nov 2009 (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.
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.
Detailed description
Hydatidiform mole (HM) is the product of an aberrant human pregnancy in which there is abnormal embryonic development and abnormal proliferation of placental villi. The incidence of HM varies between ethnic groups, and occurs in 1 in every 1500 pregnancies in the USA. All HM cases are sporadic except for extremely rare familial cases. The exact mechanisms leading to molar pregnancies are not known. Hydatidiform moles are classified based on histology and karyotype data into two types:
complete hydatidiform moles (CHM) and partial hydatidiform moles (PHM). The complete forms are characterized by general trophoblastic proliferation and absence of an embryo and amniotic membranes. In most of the cases, CHM have a diploid genome, and are androgenetic with two identical sets of paternal chromosomes. Partial hydatidiform moles are characterized by focal trophoblastic proliferation. Embryos and amniotic membranes are usually present in these molar pregnancies. Partial hydatidiform moles are mostly triploid with two sets of paternal chromosomes and one set of maternal chromosomes. The comparison of findings in androgenetic CHM and PHM indicate that both maternally (under) expressed and paternally (over) expressed genes play a role in the pathophysiology of molar pregnancies. Very few genetic studies have been performed on molar pregnancies or the patients who carry these pregnancies. A few studies have looked at the over- or underexpression of genes that may play a role in the progression or invasiveness of hydatidiform moles; however none have addressed the underlying genetic etiology. We have been able to study an inbred family of which several female members have had recurrent hydatidiform moles and have now genetically mapped the defective gene responsible for the molar pregnancies in this family. We then worked towards refined characterization of the genetic locus containing the mutated gene and analysis of candidate genes in this region for mutations leading to molar pregnancy. Because the hydatidiform moles in these patients have abnormal genetic imprinting, we believe that this candidate gene is important for establishment of genetic imprinting in the maternal germline. Recently, another group of investigators studying this condition identified mutations in a gene, NALP7 (now renamed to NLRP7), in some of the affected women. We confirmed this in other subjects studied by us. This is the first identified gene, but there is genetic heterogeneity and other genes still remain to be found. In addition, the normal function of this gene in reproduction and how it leads to recurrent moles when mutated remains to be determined. To study both of these, it will be very important to collect as many molar pregnancy tissue samples as possible, as well as blood samples and/or other non-invasively obtained samples, such as buccal swabs and saliva, from affected patients and their families. Recent evidence suggests that mutations in NLRP7 might cause other forms of reproductive failure, such as triploid spontaneous abortions. It has further been proposed that the mutation status of NLRP7 in women with recurrent reproductive loss is an important predictor of the outcome of Assisted Reproductive Technologies. Therefore, we are carrying out mutation analysis of NLRP2 and NLRP7 in women with unexplained infertility and other forms of reproductive failure.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Experimental | – | –Individuals with recurrent or sporadic hydatidiform moles and their first-degree family members. Sometimes additional family members are also enrolled. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals who have had sporadic or recurrent hydatidiform moles and their first degree relatives. Sometimes additional family members are also enrolled.
Key inclusion criteria (2 listed)
- Personal or family history of recurrent moles or a sporadic mole
- Presence of a mutation in NLRP7
Key exclusion criteria (1 listed)
- None
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
Identifying the change in the genetic information that causes recurrent hydatidiform moles.
Time frame: Through study completion, an average of 15 years.
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.
Identifying the changes in the genetic information that cause different forms of unexplained reproductive failure
Time frame: Through study completion, an average of 15 years.
The researchers will isolate genetic material from blood of women with recurrent unexplained reproductive failure (RF), their miscarried pregnancies if possible, and for some from first-degree relatives. DNA sequencing and bioinformatic analysis will be used to find changes in the genetic code unique to individuals with unexplained RF. When a new gene is found that shows variants that are deleterious to its function in at least 3 unrelated women with unexplained RF, but not in healthy pregnant women, the outcome (finding a new genetic cause for RF) will be achieved. Unexplained RF is relatively rare and many causes are not yet known, 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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Apr 2026.
- Background: PubMed 16540529Van 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.
- Background: PubMed 10072436Moglabey 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.
- Background: PubMed 17579354Qian 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.
- Background: PubMed 17204043Slim 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.
- Background: PubMed 16874523Djuric 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.
- Background: PubMed 16462743Murdoch 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.
- Background: PubMed 15457849Fisher RA, Hodges MD, Newlands ES. Familial recurrent hydatidiform mole: a review. J Reprod Med. 2004 Aug;49(8):595-601.
- Background: PubMed 16239310Zhao J, Moss J, Sebire NJ, Cui QC, Seckl MJ, Xiang Y, Fisher RA. Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole. Hum Reprod. 2006 Feb;21(2):536-41. doi: 10.1093/humrep/dei357. Epub 2005 Oct 20.
- Background: PubMed 12471053Fisher RA, Hodges MD, Rees HC, Sebire NJ, Seckl MJ, Newlands ES, Genest DR, Castrillon DH. The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. Hum Mol Genet. 2002 Dec 15;11(26):3267-72. doi: 10.1093/hmg/11.26.3267.
- Background: PubMed 16709217van der Smagt JJ, Scheenjes E, Kremer JA, Hennekam FA, Fisher RA. Heterogeneity in the origin of recurrent complete hydatidiform moles: not all women with multiple molar pregnancies have biparental moles. BJOG. 2006 Jun;113(6):725-8. doi: 10.1111/j.1471-0528.2006.00929.x.
- Results publication: PubMed 18039680Kou YC, Shao L, Peng HH, Rosetta R, del Gaudio D, Wagner AF, Al-Hussaini TK, Van den Veyver IB. A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Mol Hum Reprod. 2008 Jan;14(1):33-40. doi: 10.1093/molehr/gam079. Epub 2007 Nov 26.
- Results publication: PubMed 15979551Panichkul PC, Al-Hussaini TK, Sierra R, Kashork CD, Popek EJ, Stockton DW, Van den Veyver IB. Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis. J Soc Gynecol Investig. 2005 Jul;12(5):376-83. doi: 10.1016/j.jsgi.2005.02.011.
- Individual participant dataSharing planned: Yes. The study is aimed to find the genetic cause of a rare condition, hydatidiform moles. Patient data with no identifying information will be published in aggregate following peer review in journals and/or presented at scientific meetings.
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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.
Ignatia B Van den Veyver, MD principal investigator
Baylor College of Medicine
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 Hydatidiform Moles, run by Baylor College of Medicine at 1 site in United States.
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: under way, not looking for participants, as of the sponsor's last update on 23 Apr 2026. 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 United States. 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?
This study is still under way. Results are not available in the source record yet.
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?
Identifying the change in the genetic information that causes recurrent hydatidiform moles. (time frame: Through study completion, an average of 15 years.). The study lists 2 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 NCT01008501, which also lists 17 linked publications.
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 2026.