Research on the occurrence of CHARGE syndrome features and CHD7 mutations in patients with Kallmann syndrome

Research on the occurrence of CHARGE syndrome features and CHD7 mutations in patients with Kallmann syndrome - Clinical overlap between CHARGE and Kallmann syndrome

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON31298

Enrollment

Registered

2007-11-20

Start date

2007-12-06

Completion date

Unknown

Last updated

2025-03-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hall Hittner syndrome = CHARGE syndrome hypogonadotropic hypogonadism (delayed puberty) + an/hyposmia (decreased ability to smell) = Kallmann syndrome

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Kallmann syndrome patients (both an/hyposmia and hypogonadotropic hypogonadism must be present)

Exclusion criteria

Exclusion criteria: Presence of a KAL1 or FGFR1 mutation

Design outcomes

Primary

Measure	Time frame
CHD7 mutation: present or absent CHARGE features: present or absent	—

Secondary

Measure	Time frame
-	—

Countries

Netherlands

Outcome results