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NCT00645645
A Study of the Genetic Analysis of Brain Disorders
trial in Holoprosencephaly in 5,735 participants. Completed in 19 January 2021.
19 January 2021
Quick facts
| Lead sponsor | National Human Genome Research Institute (NHGRI) |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 5,735 |
| Start date | 1 June 2008 |
| Primary completion | 19 January 2021 |
| Estimated completion | 19 January 2021 |
| Sites | 1 location across United States |
Conditions studied
- Holoprosencephaly — all drugs for Holoprosencephaly →
Sponsor
National Human Genome Research Institute (NHGRI)
Who can join
1 Month and older, any sex, with Holoprosencephaly. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencephaly (HPE). This malformation of the brain can result from either environmental or genetic causes, and it is the aim of these investigations to determine the genes responsible for both normal and abnormal brain development through the study of patients with this disorder. Mutations in one such gene, Sonic Hedgehog, have been shown by us to be responsible for approximately one quarter of familial cases of HPE. Other genes either related to the hedgehog pathway or located at unrelated defined genetic loci may also contribute to HPE and are the subject of active investigation. We anticipate that many genes important for normal brain development will be identified in the search for genetic causes of HPE.
Publications & conference data
1 peer-reviewed publication reference this trial (live from Europe PMC):
-
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Weiss K, Kruszka P, Guillen Sacoto MJ, Addissie YA, et al · · 2018 · cited 15× · PMID 28640243 · DOI 10.1038/gim.2017.68
Verify or expand the search:
- PubMed search for NCT00645645
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT00645645 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by National Human Genome Research Institute (NHGRI)
- Last refreshed: 14 December 2021
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT00645645.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing