Clinical trial

GROWing Up With Rare GENEtic Syndromes

NCT04463316

StatusRECRUITING

Study typeOBSERVATIONAL

Start date2018-10-01

PhaseN/A

Study timeline

Study start (actual)2018-10-01Date precision: day

Registry last updated2023-09-06

Observed by CureCurrent2026-10-07

Recorded dates are source observations, not predictions. Missing milestones are not estimated.

Conditions

Prader-Willi Syndromeverified · MONDO: Prader-Willi syndrome

PWS-like Syndromeunresolved

Silver Russel Syndromeunresolved

Congenital Hypopituitarismverified · MONDO: non-acquired combined pituitary hormone deficiency

Klinefelter (XXY-)Syndromeunresolved

Congenital Adrenal Hyperplasiaverified · MONDO: congenital adrenal hyperplasia

XXXXY Syndromeunresolved

XXYY Syndromeunresolved

XXXX Syndrome (Tetra-X Syndrome)unresolved

Disorders of Sex Developmentverified · MONDO: disorder of sexual differentiation

Turner Syndromeverified · MONDO: Turner syndrome

46, XY DSDverified · MONDO: 46 XY differences of sex development

Tuberous Sclerosisverified · MONDO: tuberous sclerosis

Neurofibromatosisverified · MONDO: neurofibromatosis

Albright Hereditaire Osteodystrofieunresolved

Cornelia de Lange Syndromeverified · MONDO: Cornelia de Lange syndrome

Saethre-Chotzen Syndromeverified · MONDO: Saethre-Chotzen syndrome

17p- Deletiesyndromeunresolved

VCF Syndromeverified · MONDO: velocardiofacial syndrome

POLR3A Mutatieunresolved

Ohdo Syndromeverified · MONDO: blepharophimosis - intellectual disability syndrome, Ohdo type

Jacobsen Syndrome / 11 q Syndromeunresolved

Myrhe Syndromeunresolved

CHARGE Syndromeverified · MONDO: CHARGE syndrome

1q25-32 Deletieunresolved

Bardet Biedl Syndromecandidate · MONDO: Bardet-Biedl syndrome

Rett Syndromeverified · MONDO: Rett syndrome

22q11 Deletion Syndromeverified · MONDO: 22q11.2 deletion syndrome

Allan-Herndon-Dudley Syndromeverified · MONDO: Allan-Herndon-Dudley syndrome

Kallmann Syndromeverified · MONDO: Kallmann syndrome

Rare Bone Disordersunresolved

Noonan Syndromeverified · MONDO: Noonan syndrome

Williams-Beuren Syndromeverified · MONDO: Williams syndrome

Interventions

Retrospective file studiesDIAGNOSTIC_TEST

Sponsors & collaborators

dr. Laura C. G. de Graaff-Herderlead sponsor

Registry source

Open the source record to verify current eligibility, contacts, locations and registry updates.

Open NCT04463316 on ClinicalTrials.gov ↗

Registry-derived research relationships: ClinicalTrials.gov. Raw condition and intervention labels remain distinct from canonical MONDO/RxNorm entities unless separately normalized.