SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Mutation P250R

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)

This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth. Because of the premature closure, the skull is not able to grow in its natural shape; instead, it compensates with growth in areas of the skull where the sutures have not yet closed. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Patients may also have an enlarged head, abnormalities of the hands or feet, and hearing loss. The fibroblast growth factor receptor 3 (FGFR3) gene, which is involved in the development and maintenance of bone tissue, plays a role in Muenke syndrome. In some cases, the FGFR3 mutation is inherited from a parent with Muenke syndrome; in other cases, where there is no family history of the disorder, the mutation occurs anew. A better understanding of this gene may lead researchers to develop better treatments and genetic counseling for people affected by Muenke syndrome. Patients with Muenke syndrome and their blood relatives may be eligible for this study. Family members with confirmed Muenke syndrome will have genetic counseling, and patients undergo the following tests and procedures: - Review of medical records and test results. - Questionnaires about the patient's prenatal, birth, newborn, and past medical history; family history; growth and development; medications; and current therapies. - Physical, neurological, ear, nose and throat, dental, and eye examinations. - Neuropsychological testing to assess cognitive thinking abilities. - Hearing evaluation. This includes an audiology test in which the patients listens to soft tones through earphones; a power reflectance test in which a chirping sound is heard through an earpiece placed at the entrance to the ear canal, and possibly an ABR/ASSR test, in which electrodes are attached to the forehead, earlobes, and behind the ears to measure brain waves in response to certain conditions. - MRI scan of the brain. MRI uses a strong magnetic field and radio waves to produce detailed pictures of the brain. During the scan, the patient lies on a table in a narrow cylinder (the scanner), wearing ear plugs to muffle loud noises that occur with electrical switching of the magnetic fields. - MRI scan of the middle and inner ear. This test is similar to the MRI, but uses a dye injected in a vein to enhance the images. - CT scan of the skull. CT uses x-rays to produce 3-dimensional images of the part of the body studied. - Dental evaluation with x-rays. - Skeletal survey (x-rays of all bones of the body). - Developmental assessment of IQ testing. - Blood tests for research purposes. A cell line may be established for use in future research. - Medical photographs to demonstrate clinical features, including side and front views of the face, head, and other parts of the body that may be involved in Muenke syndrome, like the hands and feet. - Other consultations or tests as clinically indicated

NCT00106977 Craniosynostosis Muenke Syndrome
MeSH: Craniosynostoses Syndrome
HPO: Brachycephaly Craniosynostosis Lambdoidal craniosynostosis Metopic synostosis Oxycephaly Premature closure of fontanelles Scaphocephaly Trigonocephaly Turricephaly

The objective of this study is primarily to increase our understanding of the genetics and clinical characteristics of Muenke syndrome.. - INCLUSION CRITERIA: Subjects who have had confirmation of a Pro250Arg mutation in FGFR3 by a CLIA-certified laboratory. --- Pro250Arg ---

Geneticists and genetic counselors may refer individuals who are suspected to have Muenke syndrome, but who have not yet been tested for the FGFR3 Pro250Arg mutation. --- Pro250Arg ---

Testing for the Pro250Arg mutation maybe performed at the discretion of our research group. --- Pro250Arg ---

- INCLUSION CRITERIA: Subjects who have had confirmation of a Pro250Arg mutation in FGFR3 by a CLIA-certified laboratory. --- Pro250Arg ---

Primary Outcomes

Description: The objective of this study is primarily to increase our understanding of the genetics and clinical characteristics of Muenke syndrome.

Measure: Understanding

Time: Ongoing


HPO Nodes


Craniosynostosis
Genes 191
GTF2H5 IFT122 NSD1 CDC45 TNFSF11 CCNQ SETD2 GPC6 KAT6A MEGF8 TBC1D24 AKT1 SON ERCC2 FGFR2 SPECC1L FGFR3 CYP26B1 WDR35 ERF FGFR3 P4HB NFIX RBBP8 MYH3 MED12 PSAT1 MPLKIP TARS1 ALX4 ALPL ESCO2 STAT3 ENPP1 SLC12A6 ALX4 GNPTAB HUWE1 CDT1 RTTN FGFR1 DMP1 IRX5 FGFR2 FGFR2 LRP5 HNRNPK ATRIP DPF2 FGFR1 TBX1 GP1BB SLC25A24 CEP120 CDH11 FGFR2 GLI3 TGFBR1 PHEX NSUN2 EFNB1 SLC39A8 COL10A1 TLK2 ORC1 SNX10 FGFR1 SLC39A8 FLNA FGFR1 POR FBN1 CCBE1 COLEC10 FGFR3 TWIST1 RNF113A RAB23 FGFR1 FGFR2 ERCC3 POR CENPE ORC4 FGFR2 SLC2A10 SLC25A24 TRAIP BMP4 DMP1 ERF SMAD6 SLC35A2 BPNT2 MASP1 SCARF2 IFT52 FGFR1 KAT6A FGFR2 ALX4 CEP152 SEC24D MAP3K7 HIRA FBN1 FGFR1 CLCN7 FGFR2 FLNB ZIC1 CCBE1 GTF2E2 POLA1 TMCO1 DPH1 CENPJ GLIS3 SPECC1L TGFBR2 MEGF8 RREB1 FGFR2 FGFR2 GMNN MASP1 FGFR2 ORC6 GTF2E2 RSPRY1 TGFBR1 TCF12 ESCO2 TWIST1 WDR35 PPP1CB PPP3CA ZIC1 PLK4 LEMD3 POR FGFR1 SMO WDR19 SMO ATR IL11RA IFT43 MSX2 COLEC11 ADAMTS3 LIG4 ARVCF IFT140 B3GLCT WDR19 SEC24C PCNT RAB23 COLEC11 FGFR2 CDC6 DONSON IFT122 ERF TCIRG1 TWIST1 STAT3 FGFR2 SON TGFBR2 PTEN CDC45 RECQL4 JMJD1C SKI KRAS GLI3 EFNB1 IFT43 FGFR2 SKI FGFR3 TBX1 COMT UFD1 ALPL APC2 CWC27 FAT4 SMAD3